A dominant vimentin variant causes a rare syndrome with premature aging Article Swipe
Benjamin Cogné
,
Jamal-Eddine Bouameur
,
Gaëlle Hayot
,
Xénia Latypova
,
Sundararaghavan Pattabiraman
,
Amandine Caillaud
,
Karim Si‐Tayeb
,
Thomas Besnard
,
Sébastien Küry
,
Caroline Chariau
,
Anne Gaignerie
,
Laurent David
,
P. Bordure
,
Daniel Kaganovich
,
Stéphane Bézieau
,
Christelle Golzio
,
Thomas M. Magin
,
Bertrand Isidor
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-020-0583-2
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41431-020-0583-2
Related Topics
Concepts
Vimentin
LMNA
Intermediate filament
Zebrafish
Biology
Missense mutation
Premature aging
Progeria
Phenotype
Pathology
Genetics
Cell biology
Medicine
Cytoskeleton
Immunology
Gene
Immunohistochemistry
Cell
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41431-020-0583-2
- https://www.nature.com/articles/s41431-020-0583-2.pdf
- OA Status
- bronze
- Cited By
- 29
- References
- 40
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3005789967
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3005789967Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41431-020-0583-2Digital Object Identifier
- Title
-
A dominant vimentin variant causes a rare syndrome with premature agingWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-02-17Full publication date if available
- Authors
-
Benjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, Xénia Latypova, Sundararaghavan Pattabiraman, Amandine Caillaud, Karim Si‐Tayeb, Thomas Besnard, Sébastien Küry, Caroline Chariau, Anne Gaignerie, Laurent David, P. Bordure, Daniel Kaganovich, Stéphane Bézieau, Christelle Golzio, Thomas M. Magin, Bertrand IsidorList of authors in order
- Landing page
-
https://doi.org/10.1038/s41431-020-0583-2Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41431-020-0583-2.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.nature.com/articles/s41431-020-0583-2.pdfDirect OA link when available
- Concepts
-
Vimentin, LMNA, Intermediate filament, Zebrafish, Biology, Missense mutation, Premature aging, Progeria, Phenotype, Pathology, Genetics, Cell biology, Medicine, Cytoskeleton, Immunology, Gene, Immunohistochemistry, CellTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
29Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 5, 2023: 6, 2022: 8, 2021: 3Per-year citation counts (last 5 years)
- References (count)
-
40Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W3005789967 |
|---|---|
| doi | https://doi.org/10.1038/s41431-020-0583-2 |
| ids.doi | https://doi.org/10.1038/s41431-020-0583-2 |
| ids.mag | 3005789967 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/32066935 |
| ids.openalex | https://openalex.org/W3005789967 |
| fwci | 3.10305081 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D041721 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | 3T3-L1 Cells |
| mesh[1].qualifier_ui | Q000378 |
| mesh[1].descriptor_ui | D017667 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | metabolism |
| mesh[1].descriptor_name | Adipocytes |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D050154 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Adiposity |
| mesh[3].qualifier_ui | |
| mesh[3].descriptor_ui | D000328 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | |
| mesh[3].descriptor_name | Adult |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D000818 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Animals |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D002478 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Cells, Cultured |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D005799 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Genes, Dominant |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D006801 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Humans |
| mesh[8].qualifier_ui | Q000378 |
| mesh[8].descriptor_ui | D057026 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | metabolism |
| mesh[8].descriptor_name | Induced Pluripotent Stem Cells |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D061986 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | MCF-7 Cells |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D008297 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Male |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D051379 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Mice |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D009154 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Mutation |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D055495 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Neurogenesis |
| mesh[14].qualifier_ui | Q000378 |
| mesh[14].descriptor_ui | D000070778 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | metabolism |
| mesh[14].descriptor_name | Perilipin-1 |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D011371 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | Progeria |
| mesh[16].qualifier_ui | Q000473 |
| mesh[16].descriptor_ui | D011371 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | pathology |
| mesh[16].descriptor_name | Progeria |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D014746 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | Vimentin |
| mesh[18].qualifier_ui | Q000378 |
| mesh[18].descriptor_ui | D014746 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | metabolism |
| mesh[18].descriptor_name | Vimentin |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D015027 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Zebrafish |
| mesh[20].qualifier_ui | |
| mesh[20].descriptor_ui | D041721 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | |
| mesh[20].descriptor_name | 3T3-L1 Cells |
| mesh[21].qualifier_ui | Q000378 |
| mesh[21].descriptor_ui | D017667 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | metabolism |
| mesh[21].descriptor_name | Adipocytes |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D050154 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Adiposity |
| mesh[23].qualifier_ui | |
| mesh[23].descriptor_ui | D000328 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | |
| mesh[23].descriptor_name | Adult |
| mesh[24].qualifier_ui | |
| mesh[24].descriptor_ui | D000818 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | |
| mesh[24].descriptor_name | Animals |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D002478 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Cells, Cultured |
| mesh[26].qualifier_ui | |
| mesh[26].descriptor_ui | D005799 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | |
| mesh[26].descriptor_name | Genes, Dominant |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D006801 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Humans |
| mesh[28].qualifier_ui | Q000378 |
| mesh[28].descriptor_ui | D057026 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | metabolism |
| mesh[28].descriptor_name | Induced Pluripotent Stem Cells |
| mesh[29].qualifier_ui | |
| mesh[29].descriptor_ui | D061986 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | |
| mesh[29].descriptor_name | MCF-7 Cells |
| mesh[30].qualifier_ui | |
| mesh[30].descriptor_ui | D008297 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | |
| mesh[30].descriptor_name | Male |
| mesh[31].qualifier_ui | |
| mesh[31].descriptor_ui | D051379 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | |
| mesh[31].descriptor_name | Mice |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D009154 |
| mesh[32].is_major_topic | False |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Mutation |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D055495 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Neurogenesis |
| mesh[34].qualifier_ui | Q000378 |
| mesh[34].descriptor_ui | D000070778 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | metabolism |
| mesh[34].descriptor_name | Perilipin-1 |
| mesh[35].qualifier_ui | Q000235 |
| mesh[35].descriptor_ui | D011371 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | genetics |
| mesh[35].descriptor_name | Progeria |
| mesh[36].qualifier_ui | Q000473 |
| mesh[36].descriptor_ui | D011371 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | pathology |
| mesh[36].descriptor_name | Progeria |
| mesh[37].qualifier_ui | Q000235 |
| mesh[37].descriptor_ui | D014746 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | genetics |
| mesh[37].descriptor_name | Vimentin |
| mesh[38].qualifier_ui | Q000378 |
| mesh[38].descriptor_ui | D014746 |
| mesh[38].is_major_topic | False |
| mesh[38].qualifier_name | metabolism |
| mesh[38].descriptor_name | Vimentin |
| mesh[39].qualifier_ui | |
| mesh[39].descriptor_ui | D015027 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | |
| mesh[39].descriptor_name | Zebrafish |
| type | article |
| title | A dominant vimentin variant causes a rare syndrome with premature aging |
| biblio.issue | 9 |
| biblio.volume | 28 |
| biblio.last_page | 1230 |
| biblio.first_page | 1218 |
| topics[0].id | https://openalex.org/T11650 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9998999834060669 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1307 |
| topics[0].subfield.display_name | Cell Biology |
| topics[0].display_name | Skin and Cellular Biology Research |
| topics[1].id | https://openalex.org/T12610 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9991999864578247 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | RNA regulation and disease |
| topics[2].id | https://openalex.org/T10604 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9980999827384949 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1312 |
| topics[2].subfield.display_name | Molecular Biology |
| topics[2].display_name | RNA Research and Splicing |
| is_xpac | False |
| apc_list.value | 2990 |
| apc_list.currency | EUR |
| apc_list.value_usd | 3690 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C147447768 |
| concepts[0].level | 3 |
| concepts[0].score | 0.9373650550842285 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q411624 |
| concepts[0].display_name | Vimentin |
| concepts[1].id | https://openalex.org/C2780654407 |
| concepts[1].level | 4 |
| concepts[1].score | 0.7371298670768738 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q4253573 |
| concepts[1].display_name | LMNA |
| concepts[2].id | https://openalex.org/C78383274 |
| concepts[2].level | 4 |
| concepts[2].score | 0.6786196231842041 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q421987 |
| concepts[2].display_name | Intermediate filament |
| concepts[3].id | https://openalex.org/C2776878037 |
| concepts[3].level | 3 |
| concepts[3].score | 0.6173810958862305 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q169444 |
| concepts[3].display_name | Zebrafish |
| concepts[4].id | https://openalex.org/C86803240 |
| concepts[4].level | 0 |
| concepts[4].score | 0.6028568744659424 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[4].display_name | Biology |
| concepts[5].id | https://openalex.org/C75563809 |
| concepts[5].level | 4 |
| concepts[5].score | 0.5528343915939331 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q2656896 |
| concepts[5].display_name | Missense mutation |
| concepts[6].id | https://openalex.org/C2909947164 |
| concepts[6].level | 2 |
| concepts[6].score | 0.5478352308273315 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q6139748 |
| concepts[6].display_name | Premature aging |
| concepts[7].id | https://openalex.org/C2778465436 |
| concepts[7].level | 3 |
| concepts[7].score | 0.4645027816295624 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q213098 |
| concepts[7].display_name | Progeria |
| concepts[8].id | https://openalex.org/C127716648 |
| concepts[8].level | 3 |
| concepts[8].score | 0.3713986277580261 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[8].display_name | Phenotype |
| concepts[9].id | https://openalex.org/C142724271 |
| concepts[9].level | 1 |
| concepts[9].score | 0.35956332087516785 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[9].display_name | Pathology |
| concepts[10].id | https://openalex.org/C54355233 |
| concepts[10].level | 1 |
| concepts[10].score | 0.3555780053138733 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[10].display_name | Genetics |
| concepts[11].id | https://openalex.org/C95444343 |
| concepts[11].level | 1 |
| concepts[11].score | 0.34935975074768066 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7141 |
| concepts[11].display_name | Cell biology |
| concepts[12].id | https://openalex.org/C71924100 |
| concepts[12].level | 0 |
| concepts[12].score | 0.23767060041427612 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[12].display_name | Medicine |
| concepts[13].id | https://openalex.org/C142669718 |
| concepts[13].level | 3 |
| concepts[13].score | 0.22846198081970215 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q154626 |
| concepts[13].display_name | Cytoskeleton |
| concepts[14].id | https://openalex.org/C203014093 |
| concepts[14].level | 1 |
| concepts[14].score | 0.18001624941825867 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q101929 |
| concepts[14].display_name | Immunology |
| concepts[15].id | https://openalex.org/C104317684 |
| concepts[15].level | 2 |
| concepts[15].score | 0.1568300426006317 |
| concepts[15].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[15].display_name | Gene |
| concepts[16].id | https://openalex.org/C204232928 |
| concepts[16].level | 2 |
| concepts[16].score | 0.1206001341342926 |
| concepts[16].wikidata | https://www.wikidata.org/wiki/Q899285 |
| concepts[16].display_name | Immunohistochemistry |
| concepts[17].id | https://openalex.org/C1491633281 |
| concepts[17].level | 2 |
| concepts[17].score | 0.11211258172988892 |
| concepts[17].wikidata | https://www.wikidata.org/wiki/Q7868 |
| concepts[17].display_name | Cell |
| keywords[0].id | https://openalex.org/keywords/vimentin |
| keywords[0].score | 0.9373650550842285 |
| keywords[0].display_name | Vimentin |
| keywords[1].id | https://openalex.org/keywords/lmna |
| keywords[1].score | 0.7371298670768738 |
| keywords[1].display_name | LMNA |
| keywords[2].id | https://openalex.org/keywords/intermediate-filament |
| keywords[2].score | 0.6786196231842041 |
| keywords[2].display_name | Intermediate filament |
| keywords[3].id | https://openalex.org/keywords/zebrafish |
| keywords[3].score | 0.6173810958862305 |
| keywords[3].display_name | Zebrafish |
| keywords[4].id | https://openalex.org/keywords/biology |
| keywords[4].score | 0.6028568744659424 |
| keywords[4].display_name | Biology |
| keywords[5].id | https://openalex.org/keywords/missense-mutation |
| keywords[5].score | 0.5528343915939331 |
| keywords[5].display_name | Missense mutation |
| keywords[6].id | https://openalex.org/keywords/premature-aging |
| keywords[6].score | 0.5478352308273315 |
| keywords[6].display_name | Premature aging |
| keywords[7].id | https://openalex.org/keywords/progeria |
| keywords[7].score | 0.4645027816295624 |
| keywords[7].display_name | Progeria |
| keywords[8].id | https://openalex.org/keywords/phenotype |
| keywords[8].score | 0.3713986277580261 |
| keywords[8].display_name | Phenotype |
| keywords[9].id | https://openalex.org/keywords/pathology |
| keywords[9].score | 0.35956332087516785 |
| keywords[9].display_name | Pathology |
| keywords[10].id | https://openalex.org/keywords/genetics |
| keywords[10].score | 0.3555780053138733 |
| keywords[10].display_name | Genetics |
| keywords[11].id | https://openalex.org/keywords/cell-biology |
| keywords[11].score | 0.34935975074768066 |
| keywords[11].display_name | Cell biology |
| keywords[12].id | https://openalex.org/keywords/medicine |
| keywords[12].score | 0.23767060041427612 |
| keywords[12].display_name | Medicine |
| keywords[13].id | https://openalex.org/keywords/cytoskeleton |
| keywords[13].score | 0.22846198081970215 |
| keywords[13].display_name | Cytoskeleton |
| keywords[14].id | https://openalex.org/keywords/immunology |
| keywords[14].score | 0.18001624941825867 |
| keywords[14].display_name | Immunology |
| keywords[15].id | https://openalex.org/keywords/gene |
| keywords[15].score | 0.1568300426006317 |
| keywords[15].display_name | Gene |
| keywords[16].id | https://openalex.org/keywords/immunohistochemistry |
| keywords[16].score | 0.1206001341342926 |
| keywords[16].display_name | Immunohistochemistry |
| keywords[17].id | https://openalex.org/keywords/cell |
| keywords[17].score | 0.11211258172988892 |
| keywords[17].display_name | Cell |
| language | en |
| locations[0].id | doi:10.1038/s41431-020-0583-2 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S121703463 |
| locations[0].source.issn | 1018-4813, 1476-5438 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 1018-4813 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | European Journal of Human Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310319965 |
| locations[0].source.host_organization_name | Springer Nature |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310319965 |
| locations[0].source.host_organization_lineage_names | Springer Nature |
| locations[0].license | |
| locations[0].pdf_url | https://www.nature.com/articles/s41431-020-0583-2.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | European Journal of Human Genetics |
| locations[0].landing_page_url | https://doi.org/10.1038/s41431-020-0583-2 |
| locations[1].id | pmid:32066935 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | European journal of human genetics : EJHG |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/32066935 |
| locations[2].id | pmh:oai:HAL:hal-03982221v1 |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306402512 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | HAL (Le Centre pour la Communication Scientifique Directe) |
| locations[2].source.host_organization | https://openalex.org/I1294671590 |
| locations[2].source.host_organization_name | Centre National de la Recherche Scientifique |
| locations[2].source.host_organization_lineage | https://openalex.org/I1294671590 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Journal articles |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | European Journal of Human Genetics, 2020, 28, pp.1218-1230. ⟨10.1038/s41431-020-0583-2⟩ |
| locations[2].landing_page_url | https://hal.science/hal-03982221 |
| locations[3].id | pmh:oai:HAL:inserm-02548884v1 |
| locations[3].is_oa | False |
| locations[3].source.id | https://openalex.org/S4306402512 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | HAL (Le Centre pour la Communication Scientifique Directe) |
| locations[3].source.host_organization | https://openalex.org/I1294671590 |
| locations[3].source.host_organization_name | Centre National de la Recherche Scientifique |
| locations[3].source.host_organization_lineage | https://openalex.org/I1294671590 |
| locations[3].license | |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | info:eu-repo/semantics/article |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | ISSN: 1018-4813 |
| locations[3].landing_page_url | https://www.hal.inserm.fr/inserm-02548884 |
| locations[4].id | pmh:oai:eprints.soton.ac.uk:474840 |
| locations[4].is_oa | False |
| locations[4].source.id | https://openalex.org/S4306401019 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | ePrints Soton (University of Southampton) |
| locations[4].source.host_organization | https://openalex.org/I43439940 |
| locations[4].source.host_organization_name | University of Southampton |
| locations[4].source.host_organization_lineage | https://openalex.org/I43439940 |
| locations[4].license | |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Article |
| locations[4].license_id | |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | https://eprints.soton.ac.uk/474840/ |
| locations[5].id | pmh:oai:publications.goettingen-research-online.de:2/73739 |
| locations[5].is_oa | True |
| locations[5].source | |
| locations[5].license | cc-by |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | journal_article |
| locations[5].license_id | https://openalex.org/licenses/cc-by |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | |
| locations[5].landing_page_url | https://resolver.sub.uni-goettingen.de/purl?gro-2/73739 |
| locations[6].id | pmh:oai:pubmedcentral.nih.gov:7609319 |
| locations[6].is_oa | True |
| locations[6].source.id | https://openalex.org/S2764455111 |
| locations[6].source.issn | |
| locations[6].source.type | repository |
| locations[6].source.is_oa | False |
| locations[6].source.issn_l | |
| locations[6].source.is_core | False |
| locations[6].source.is_in_doaj | False |
| locations[6].source.display_name | PubMed Central |
| locations[6].source.host_organization | https://openalex.org/I1299303238 |
| locations[6].source.host_organization_name | National Institutes of Health |
| locations[6].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[6].license | |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | Text |
| locations[6].license_id | |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | Eur J Hum Genet |
| locations[6].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/7609319 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5107656819 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-5503-6292 |
| authorships[0].author.display_name | Benjamin Cogné |
| authorships[0].countries | FR |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[0].affiliations[0].raw_affiliation_string | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[0].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[0].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[0].institutions[0].country_code | FR |
| authorships[0].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Benjamin Cogné |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[1].author.id | https://openalex.org/A5000785532 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Jamal-Eddine Bouameur |
| authorships[1].countries | DE |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[1].affiliations[0].raw_affiliation_string | Division of Cell and Developmental Biology, Institute of Biology, University of Leipzig, Philipp-Rosenthal-Strasse 55, 04103, Leipzig, Germany |
| authorships[1].institutions[0].id | https://openalex.org/I926574661 |
| authorships[1].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[1].institutions[0].country_code | DE |
| authorships[1].institutions[0].display_name | Leipzig University |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Jamal-Eddine Bouameur |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Division of Cell and Developmental Biology, Institute of Biology, University of Leipzig, Philipp-Rosenthal-Strasse 55, 04103, Leipzig, Germany |
| authorships[2].author.id | https://openalex.org/A5040549914 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-8113-7399 |
| authorships[2].author.display_name | Gaëlle Hayot |
| authorships[2].countries | FR |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210086872 |
| authorships[2].affiliations[0].raw_affiliation_string | Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France |
| authorships[2].institutions[0].id | https://openalex.org/I4210086872 |
| authorships[2].institutions[0].ror | https://ror.org/0015ws592 |
| authorships[2].institutions[0].type | facility |
| authorships[2].institutions[0].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210086872, https://openalex.org/I4210096427, https://openalex.org/I68947357 |
| authorships[2].institutions[0].country_code | FR |
| authorships[2].institutions[0].display_name | Institut de génétique et de biologie moléculaire et cellulaire |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Gaëlle Hayot |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France |
| authorships[3].author.id | https://openalex.org/A5059489720 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-0809-3734 |
| authorships[3].author.display_name | Xénia Latypova |
| authorships[3].countries | FR |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[3].affiliations[0].raw_affiliation_string | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[3].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[3].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[3].institutions[0].country_code | FR |
| authorships[3].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Xenia Latypova |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[4].author.id | https://openalex.org/A5071088437 |
| authorships[4].author.orcid | |
| authorships[4].author.display_name | Sundararaghavan Pattabiraman |
| authorships[4].countries | DE |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210116730 |
| authorships[4].affiliations[0].raw_affiliation_string | Department of Experimental Neurodegeneration, University Medical Center Göttingen, Walweg 33, 37073, Göttingen, Germany |
| authorships[4].institutions[0].id | https://openalex.org/I4210116730 |
| authorships[4].institutions[0].ror | https://ror.org/021ft0n22 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210116730 |
| authorships[4].institutions[0].country_code | DE |
| authorships[4].institutions[0].display_name | Universitätsmedizin Göttingen |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Sundararaghavan Pattabiraman |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Department of Experimental Neurodegeneration, University Medical Center Göttingen, Walweg 33, 37073, Göttingen, Germany |
| authorships[5].author.id | https://openalex.org/A5025483584 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-6409-2336 |
| authorships[5].author.display_name | Amandine Caillaud |
| authorships[5].countries | FR |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[5].affiliations[0].raw_affiliation_string | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[5].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[5].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[5].institutions[0].type | government |
| authorships[5].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[5].institutions[0].country_code | FR |
| authorships[5].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[5].institutions[1].id | https://openalex.org/I154526488 |
| authorships[5].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[5].institutions[1].type | government |
| authorships[5].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[5].institutions[1].country_code | FR |
| authorships[5].institutions[1].display_name | Inserm |
| authorships[5].institutions[2].id | https://openalex.org/I4210144168 |
| authorships[5].institutions[2].ror | https://ror.org/049kkt456 |
| authorships[5].institutions[2].type | facility |
| authorships[5].institutions[2].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[5].institutions[2].country_code | FR |
| authorships[5].institutions[2].display_name | Institut du Thorax |
| authorships[5].institutions[3].id | https://openalex.org/I97188460 |
| authorships[5].institutions[3].ror | https://ror.org/03gnr7b55 |
| authorships[5].institutions[3].type | education |
| authorships[5].institutions[3].lineage | https://openalex.org/I97188460 |
| authorships[5].institutions[3].country_code | FR |
| authorships[5].institutions[3].display_name | Nantes Université |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Amandine Caillaud |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[6].author.id | https://openalex.org/A5010896897 |
| authorships[6].author.orcid | https://orcid.org/0000-0003-4599-7441 |
| authorships[6].author.display_name | Karim Si‐Tayeb |
| authorships[6].countries | FR |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[6].affiliations[0].raw_affiliation_string | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[6].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[6].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[6].institutions[0].type | government |
| authorships[6].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[6].institutions[0].country_code | FR |
| authorships[6].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[6].institutions[1].id | https://openalex.org/I154526488 |
| authorships[6].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[6].institutions[1].type | government |
| authorships[6].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[6].institutions[1].country_code | FR |
| authorships[6].institutions[1].display_name | Inserm |
| authorships[6].institutions[2].id | https://openalex.org/I4210144168 |
| authorships[6].institutions[2].ror | https://ror.org/049kkt456 |
| authorships[6].institutions[2].type | facility |
| authorships[6].institutions[2].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[6].institutions[2].country_code | FR |
| authorships[6].institutions[2].display_name | Institut du Thorax |
| authorships[6].institutions[3].id | https://openalex.org/I97188460 |
| authorships[6].institutions[3].ror | https://ror.org/03gnr7b55 |
| authorships[6].institutions[3].type | education |
| authorships[6].institutions[3].lineage | https://openalex.org/I97188460 |
| authorships[6].institutions[3].country_code | FR |
| authorships[6].institutions[3].display_name | Nantes Université |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Karim Si-Tayeb |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[7].author.id | https://openalex.org/A5033909318 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-4804-5147 |
| authorships[7].author.display_name | Thomas Besnard |
| authorships[7].countries | FR |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[7].affiliations[0].raw_affiliation_string | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[7].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[7].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[7].institutions[0].country_code | FR |
| authorships[7].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Thomas Besnard |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[8].author.id | https://openalex.org/A5034876399 |
| authorships[8].author.orcid | https://orcid.org/0000-0001-5497-0465 |
| authorships[8].author.display_name | Sébastien Küry |
| authorships[8].countries | FR |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[8].affiliations[0].raw_affiliation_string | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[8].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[8].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[8].institutions[0].country_code | FR |
| authorships[8].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Sébastien Küry |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, France |
| authorships[9].author.id | https://openalex.org/A5112096641 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Caroline Chariau |
| authorships[9].countries | FR |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I97188460 |
| authorships[9].affiliations[0].raw_affiliation_string | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[9].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[9].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[9].institutions[0].type | government |
| authorships[9].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[9].institutions[0].country_code | FR |
| authorships[9].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[9].institutions[1].id | https://openalex.org/I154526488 |
| authorships[9].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[9].institutions[1].type | government |
| authorships[9].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[9].institutions[1].country_code | FR |
| authorships[9].institutions[1].display_name | Inserm |
| authorships[9].institutions[2].id | https://openalex.org/I97188460 |
| authorships[9].institutions[2].ror | https://ror.org/03gnr7b55 |
| authorships[9].institutions[2].type | education |
| authorships[9].institutions[2].lineage | https://openalex.org/I97188460 |
| authorships[9].institutions[2].country_code | FR |
| authorships[9].institutions[2].display_name | Nantes Université |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Caroline Chariau |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[10].author.id | https://openalex.org/A5036019154 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Anne Gaignerie |
| authorships[10].countries | FR |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I97188460 |
| authorships[10].affiliations[0].raw_affiliation_string | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[10].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[10].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[10].institutions[0].type | government |
| authorships[10].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[10].institutions[0].country_code | FR |
| authorships[10].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[10].institutions[1].id | https://openalex.org/I154526488 |
| authorships[10].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[10].institutions[1].type | government |
| authorships[10].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[10].institutions[1].country_code | FR |
| authorships[10].institutions[1].display_name | Inserm |
| authorships[10].institutions[2].id | https://openalex.org/I97188460 |
| authorships[10].institutions[2].ror | https://ror.org/03gnr7b55 |
| authorships[10].institutions[2].type | education |
| authorships[10].institutions[2].lineage | https://openalex.org/I97188460 |
| authorships[10].institutions[2].country_code | FR |
| authorships[10].institutions[2].display_name | Nantes Université |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Anne Gaignerie |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[11].author.id | https://openalex.org/A5101908866 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-3594-0353 |
| authorships[11].author.display_name | Laurent David |
| authorships[11].countries | FR |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I97188460 |
| authorships[11].affiliations[0].raw_affiliation_string | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[11].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[11].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[11].institutions[0].type | government |
| authorships[11].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[11].institutions[0].country_code | FR |
| authorships[11].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[11].institutions[1].id | https://openalex.org/I154526488 |
| authorships[11].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[11].institutions[1].type | government |
| authorships[11].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[11].institutions[1].country_code | FR |
| authorships[11].institutions[1].display_name | Inserm |
| authorships[11].institutions[2].id | https://openalex.org/I97188460 |
| authorships[11].institutions[2].ror | https://ror.org/03gnr7b55 |
| authorships[11].institutions[2].type | education |
| authorships[11].institutions[2].lineage | https://openalex.org/I97188460 |
| authorships[11].institutions[2].country_code | FR |
| authorships[11].institutions[2].display_name | Nantes Université |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Laurent David |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Nantes Université, CHU Nantes, Inserm, CNRS, SFR Santé, FED 4203, Inserm UMS 016, CNRS UMS 3556, F-44000, Nantes, France |
| authorships[12].author.id | https://openalex.org/A5066155974 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | P. Bordure |
| authorships[12].countries | FR |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[12].affiliations[0].raw_affiliation_string | Centre Hospitalier Universitaire de Nantes, Service Oto-rhino-laryngologie, 9 quai Moncousu, 44093, Nantes, France |
| authorships[12].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[12].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[12].institutions[0].country_code | FR |
| authorships[12].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Philippe Bordure |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Centre Hospitalier Universitaire de Nantes, Service Oto-rhino-laryngologie, 9 quai Moncousu, 44093, Nantes, France |
| authorships[13].author.id | https://openalex.org/A5033916915 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-2398-1596 |
| authorships[13].author.display_name | Daniel Kaganovich |
| authorships[13].countries | DE |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I4210116730 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Experimental Neurodegeneration, University Medical Center Göttingen, Walweg 33, 37073, Göttingen, Germany |
| authorships[13].institutions[0].id | https://openalex.org/I4210116730 |
| authorships[13].institutions[0].ror | https://ror.org/021ft0n22 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I4210116730 |
| authorships[13].institutions[0].country_code | DE |
| authorships[13].institutions[0].display_name | Universitätsmedizin Göttingen |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Daniel Kaganovich |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Experimental Neurodegeneration, University Medical Center Göttingen, Walweg 33, 37073, Göttingen, Germany |
| authorships[14].author.id | https://openalex.org/A5086740139 |
| authorships[14].author.orcid | https://orcid.org/0000-0003-0095-1319 |
| authorships[14].author.display_name | Stéphane Bézieau |
| authorships[14].countries | FR |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[14].affiliations[0].raw_affiliation_string | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[14].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[14].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[14].institutions[0].type | government |
| authorships[14].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[14].institutions[0].country_code | FR |
| authorships[14].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[14].institutions[1].id | https://openalex.org/I154526488 |
| authorships[14].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[14].institutions[1].type | government |
| authorships[14].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[14].institutions[1].country_code | FR |
| authorships[14].institutions[1].display_name | Inserm |
| authorships[14].institutions[2].id | https://openalex.org/I4210144168 |
| authorships[14].institutions[2].ror | https://ror.org/049kkt456 |
| authorships[14].institutions[2].type | facility |
| authorships[14].institutions[2].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[14].institutions[2].country_code | FR |
| authorships[14].institutions[2].display_name | Institut du Thorax |
| authorships[14].institutions[3].id | https://openalex.org/I97188460 |
| authorships[14].institutions[3].ror | https://ror.org/03gnr7b55 |
| authorships[14].institutions[3].type | education |
| authorships[14].institutions[3].lineage | https://openalex.org/I97188460 |
| authorships[14].institutions[3].country_code | FR |
| authorships[14].institutions[3].display_name | Nantes Université |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Stéphane Bézieau |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[15].author.id | https://openalex.org/A5007710149 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-4420-3921 |
| authorships[15].author.display_name | Christelle Golzio |
| authorships[15].countries | FR |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I4210086872 |
| authorships[15].affiliations[0].raw_affiliation_string | Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France |
| authorships[15].institutions[0].id | https://openalex.org/I4210086872 |
| authorships[15].institutions[0].ror | https://ror.org/0015ws592 |
| authorships[15].institutions[0].type | facility |
| authorships[15].institutions[0].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210086872, https://openalex.org/I4210096427, https://openalex.org/I68947357 |
| authorships[15].institutions[0].country_code | FR |
| authorships[15].institutions[0].display_name | Institut de génétique et de biologie moléculaire et cellulaire |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Christelle Golzio |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France |
| authorships[16].author.id | https://openalex.org/A5037306910 |
| authorships[16].author.orcid | https://orcid.org/0000-0001-7016-2409 |
| authorships[16].author.display_name | Thomas M. Magin |
| authorships[16].countries | DE |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[16].affiliations[0].raw_affiliation_string | Division of Cell and Developmental Biology, Institute of Biology, University of Leipzig, Philipp-Rosenthal-Strasse 55, 04103, Leipzig, Germany |
| authorships[16].institutions[0].id | https://openalex.org/I926574661 |
| authorships[16].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[16].institutions[0].type | education |
| authorships[16].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[16].institutions[0].country_code | DE |
| authorships[16].institutions[0].display_name | Leipzig University |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Thomas M. Magin |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Division of Cell and Developmental Biology, Institute of Biology, University of Leipzig, Philipp-Rosenthal-Strasse 55, 04103, Leipzig, Germany |
| authorships[17].author.id | https://openalex.org/A5061462589 |
| authorships[17].author.orcid | https://orcid.org/0000-0001-6480-126X |
| authorships[17].author.display_name | Bertrand Isidor |
| authorships[17].countries | FR |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[17].affiliations[0].raw_affiliation_string | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| authorships[17].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[17].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[17].institutions[0].type | government |
| authorships[17].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[17].institutions[0].country_code | FR |
| authorships[17].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[17].institutions[1].id | https://openalex.org/I154526488 |
| authorships[17].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[17].institutions[1].type | government |
| authorships[17].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[17].institutions[1].country_code | FR |
| authorships[17].institutions[1].display_name | Inserm |
| authorships[17].institutions[2].id | https://openalex.org/I4210144168 |
| authorships[17].institutions[2].ror | https://ror.org/049kkt456 |
| authorships[17].institutions[2].type | facility |
| authorships[17].institutions[2].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[17].institutions[2].country_code | FR |
| authorships[17].institutions[2].display_name | Institut du Thorax |
| authorships[17].institutions[3].id | https://openalex.org/I97188460 |
| authorships[17].institutions[3].ror | https://ror.org/03gnr7b55 |
| authorships[17].institutions[3].type | education |
| authorships[17].institutions[3].lineage | https://openalex.org/I97188460 |
| authorships[17].institutions[3].country_code | FR |
| authorships[17].institutions[3].display_name | Nantes Université |
| authorships[17].author_position | last |
| authorships[17].raw_author_name | Bertrand Isidor |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000, Nantes, France |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.nature.com/articles/s41431-020-0583-2.pdf |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | A dominant vimentin variant causes a rare syndrome with premature aging |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11650 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9998999834060669 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1307 |
| primary_topic.subfield.display_name | Cell Biology |
| primary_topic.display_name | Skin and Cellular Biology Research |
| related_works | https://openalex.org/W4297723284, https://openalex.org/W115097904, https://openalex.org/W2066816830, https://openalex.org/W4367673404, https://openalex.org/W4387798951, https://openalex.org/W2017870541, https://openalex.org/W2793626203, https://openalex.org/W2923278494, https://openalex.org/W1969237422, https://openalex.org/W2968077575 |
| cited_by_count | 29 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 5 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 6 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 8 |
| counts_by_year[4].year | 2021 |
| counts_by_year[4].cited_by_count | 3 |
| counts_by_year[5].year | 2020 |
| counts_by_year[5].cited_by_count | 6 |
| locations_count | 7 |
| best_oa_location.id | doi:10.1038/s41431-020-0583-2 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S121703463 |
| best_oa_location.source.issn | 1018-4813, 1476-5438 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 1018-4813 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | European Journal of Human Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310319965 |
| best_oa_location.source.host_organization_name | Springer Nature |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310319965 |
| best_oa_location.source.host_organization_lineage_names | Springer Nature |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://www.nature.com/articles/s41431-020-0583-2.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | European Journal of Human Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1038/s41431-020-0583-2 |
| primary_location.id | doi:10.1038/s41431-020-0583-2 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S121703463 |
| primary_location.source.issn | 1018-4813, 1476-5438 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1018-4813 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | European Journal of Human Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310319965 |
| primary_location.source.host_organization_name | Springer Nature |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310319965 |
| primary_location.source.host_organization_lineage_names | Springer Nature |
| primary_location.license | |
| primary_location.pdf_url | https://www.nature.com/articles/s41431-020-0583-2.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | European Journal of Human Genetics |
| primary_location.landing_page_url | https://doi.org/10.1038/s41431-020-0583-2 |
| publication_date | 2020-02-17 |
| publication_year | 2020 |
| referenced_works | https://openalex.org/W2010335932, https://openalex.org/W2576630995, https://openalex.org/W2044908544, https://openalex.org/W2751637839, https://openalex.org/W2217949600, https://openalex.org/W2140219079, https://openalex.org/W2007532218, https://openalex.org/W2940071180, https://openalex.org/W2757729929, https://openalex.org/W2036383283, https://openalex.org/W1997281289, https://openalex.org/W2068105268, https://openalex.org/W4239594472, https://openalex.org/W2327323565, https://openalex.org/W2023899667, https://openalex.org/W4211237789, https://openalex.org/W6808484101, https://openalex.org/W2075136927, https://openalex.org/W6669406112, https://openalex.org/W2091188300, https://openalex.org/W2044491461, https://openalex.org/W2053654414, https://openalex.org/W2076328566, https://openalex.org/W2616597273, https://openalex.org/W2083361243, https://openalex.org/W2010188733, https://openalex.org/W133994482, https://openalex.org/W2066081724, https://openalex.org/W1988866780, https://openalex.org/W2013962254, https://openalex.org/W1992515392, https://openalex.org/W1507350206, https://openalex.org/W2074393762, https://openalex.org/W2017946350, https://openalex.org/W2189489739, https://openalex.org/W2161395124, https://openalex.org/W1974662012, https://openalex.org/W2809609078, https://openalex.org/W2334365342, https://openalex.org/W4327766605 |
| referenced_works_count | 40 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 91 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 18 |
| citation_normalized_percentile.value | 0.90310092 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |