Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity Article Swipe
Katja Birker
,
Natalie J. Kirkland
,
Jeanne L. Theis
,
Zachary C. Fogarty
,
Maria A. Missinato
,
Sreehari Kalvakuri
,
Paul Grossfeld
,
Adam J. Engler
,
Karen Ocorr
,
Timothy J. Nelson
,
Alexandre R. Colas
,
Timothy M. Olson
,
Georg Vogler
,
Rolf Bodmer
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1101/2022.06.13.22276366
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1101/2022.06.13.22276366
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We therefore performed whole genome sequencing (WGS) on a large cohort of HLHS patients and their families to identify candidate genes that were then tested in Drosophila heart model for functional and structural requirements. Bioinformatic analysis of WGS data from an index family comprised of a HLHS proband born to consanguineous parents and postulated to have a homozygous recessive disease etiology, prioritized 9 candidate genes with rare, predicted damaging homozygous variants. Of the candidate HLHS gene homologs tested, cardiac-specific knockdown (KD) of mitochondrial MICOS complex subunit dCHCHD3/6 resulted in drastically compromised heart contractility, diminished levels of sarcomeric actin and myosin, reduced cardiac ATP levels, and mitochondrial fission-fusion defects. Interestingly, these heart defects were similar to those inflicted by cardiac KD of ATP synthase subunits of the electron transport chain (ETC), consistent with the MICOS complex’s role in maintaining cristae morphology and ETC complex assembly. Analysis of 183 genomes of HLHS patient-parent trios revealed five additional HLHS probands with rare, predicted damaging variants in CHCHD3 or CHCHD6 . Hypothesizing an oligogenic basis for HLHS, we tested 60 additional prioritized candidate genes in these cases for genetic interactions with CHCHD3/6 in sensitized fly hearts. Moderate KD of CHCHD3/6 in combination with Cdk12 (activator of RNA polymerase II), RNF149 (E3 ubiquitin ligase), or SPTBN1 (scaffolding protein) caused synergistic heart defects, suggesting the potential involvement of a diverse set of pathways in HLHS. Further elucidation of novel candidate genes and genetic interactions of potentially disease-contributing pathways is expected to lead to a better understanding of HLHS and other CHDs.
Related Topics
Concepts
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2022.06.13.22276366
- https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdf
- OA Status
- green
- Cited By
- 3
- References
- 77
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4283011802
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4283011802Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1101/2022.06.13.22276366Digital Object Identifier
- Title
-
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrityWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-06-16Full publication date if available
- Authors
-
Katja Birker, Natalie J. Kirkland, Jeanne L. Theis, Zachary C. Fogarty, Maria A. Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J. Engler, Karen Ocorr, Timothy J. Nelson, Alexandre R. Colas, Timothy M. Olson, Georg Vogler, Rolf BodmerList of authors in order
- Landing page
-
https://doi.org/10.1101/2022.06.13.22276366Publisher landing page
- PDF URL
-
https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdfDirect OA link when available
- Concepts
-
Candidate gene, Biology, Genetics, Proband, Hypoplastic left heart syndrome, Gene, Heart disease, Medicine, Internal medicine, MutationTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 2Per-year citation counts (last 5 years)
- References (count)
-
77Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4283011802 |
|---|---|
| doi | https://doi.org/10.1101/2022.06.13.22276366 |
| ids.doi | https://doi.org/10.1101/2022.06.13.22276366 |
| ids.openalex | https://openalex.org/W4283011802 |
| fwci | 0.36920747 |
| type | preprint |
| title | Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity |
| biblio.issue | |
| biblio.volume | |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T11677 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9987999796867371 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | Congenital heart defects research |
| topics[1].id | https://openalex.org/T10300 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.9977999925613403 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2713 |
| topics[1].subfield.display_name | Epidemiology |
| topics[1].display_name | Congenital Heart Disease Studies |
| topics[2].id | https://openalex.org/T10301 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9954000115394592 |
| 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 | Mitochondrial Function and Pathology |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C69991583 |
| concepts[0].level | 3 |
| concepts[0].score | 0.5667293667793274 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q1423575 |
| concepts[0].display_name | Candidate gene |
| concepts[1].id | https://openalex.org/C86803240 |
| concepts[1].level | 0 |
| concepts[1].score | 0.5435568690299988 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[1].display_name | Biology |
| concepts[2].id | https://openalex.org/C54355233 |
| concepts[2].level | 1 |
| concepts[2].score | 0.5065022706985474 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[2].display_name | Genetics |
| concepts[3].id | https://openalex.org/C188997412 |
| concepts[3].level | 4 |
| concepts[3].score | 0.4482557475566864 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q1640386 |
| concepts[3].display_name | Proband |
| concepts[4].id | https://openalex.org/C2779545397 |
| concepts[4].level | 3 |
| concepts[4].score | 0.4144759476184845 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q1641399 |
| concepts[4].display_name | Hypoplastic left heart syndrome |
| concepts[5].id | https://openalex.org/C104317684 |
| concepts[5].level | 2 |
| concepts[5].score | 0.3997217118740082 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[5].display_name | Gene |
| concepts[6].id | https://openalex.org/C2780074459 |
| concepts[6].level | 2 |
| concepts[6].score | 0.32566481828689575 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q389735 |
| concepts[6].display_name | Heart disease |
| concepts[7].id | https://openalex.org/C71924100 |
| concepts[7].level | 0 |
| concepts[7].score | 0.28072381019592285 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[7].display_name | Medicine |
| concepts[8].id | https://openalex.org/C126322002 |
| concepts[8].level | 1 |
| concepts[8].score | 0.2533535957336426 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[8].display_name | Internal medicine |
| concepts[9].id | https://openalex.org/C501734568 |
| concepts[9].level | 3 |
| concepts[9].score | 0.08783161640167236 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[9].display_name | Mutation |
| keywords[0].id | https://openalex.org/keywords/candidate-gene |
| keywords[0].score | 0.5667293667793274 |
| keywords[0].display_name | Candidate gene |
| keywords[1].id | https://openalex.org/keywords/biology |
| keywords[1].score | 0.5435568690299988 |
| keywords[1].display_name | Biology |
| keywords[2].id | https://openalex.org/keywords/genetics |
| keywords[2].score | 0.5065022706985474 |
| keywords[2].display_name | Genetics |
| keywords[3].id | https://openalex.org/keywords/proband |
| keywords[3].score | 0.4482557475566864 |
| keywords[3].display_name | Proband |
| keywords[4].id | https://openalex.org/keywords/hypoplastic-left-heart-syndrome |
| keywords[4].score | 0.4144759476184845 |
| keywords[4].display_name | Hypoplastic left heart syndrome |
| keywords[5].id | https://openalex.org/keywords/gene |
| keywords[5].score | 0.3997217118740082 |
| keywords[5].display_name | Gene |
| keywords[6].id | https://openalex.org/keywords/heart-disease |
| keywords[6].score | 0.32566481828689575 |
| keywords[6].display_name | Heart disease |
| keywords[7].id | https://openalex.org/keywords/medicine |
| keywords[7].score | 0.28072381019592285 |
| keywords[7].display_name | Medicine |
| keywords[8].id | https://openalex.org/keywords/internal-medicine |
| keywords[8].score | 0.2533535957336426 |
| keywords[8].display_name | Internal medicine |
| keywords[9].id | https://openalex.org/keywords/mutation |
| keywords[9].score | 0.08783161640167236 |
| keywords[9].display_name | Mutation |
| language | en |
| locations[0].id | doi:10.1101/2022.06.13.22276366 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4306402567 |
| locations[0].source.issn | |
| locations[0].source.type | repository |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | |
| locations[0].source.is_core | False |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| locations[0].source.host_organization | https://openalex.org/I2750212522 |
| locations[0].source.host_organization_name | Cold Spring Harbor Laboratory |
| locations[0].source.host_organization_lineage | https://openalex.org/I2750212522 |
| locations[0].license | cc-by-nc-nd |
| locations[0].pdf_url | https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdf |
| locations[0].version | acceptedVersion |
| locations[0].raw_type | posted-content |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc-nd |
| locations[0].is_accepted | True |
| locations[0].is_published | False |
| locations[0].raw_source_name | |
| locations[0].landing_page_url | https://doi.org/10.1101/2022.06.13.22276366 |
| indexed_in | crossref |
| authorships[0].author.id | https://openalex.org/A5063024854 |
| authorships[0].author.orcid | https://orcid.org/0000-0003-4789-0971 |
| authorships[0].author.display_name | Katja Birker |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[0].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[0].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[0].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[0].institutions[0].type | nonprofit |
| authorships[0].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | Discovery Institute |
| authorships[0].institutions[1].id | https://openalex.org/I188891513 |
| authorships[0].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[0].institutions[1].type | nonprofit |
| authorships[0].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Katja Birker |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[1].author.id | https://openalex.org/A5054166423 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-7479-1883 |
| authorships[1].author.display_name | Natalie J. Kirkland |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210089535 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, La Jolla, CA, USA |
| authorships[1].institutions[0].id | https://openalex.org/I4210089535 |
| authorships[1].institutions[0].ror | https://ror.org/00cemh325 |
| authorships[1].institutions[0].type | facility |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210089535 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Sanford Consortium for Regenerative Medicine |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Natalie J. Kirkland |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, La Jolla, CA, USA |
| authorships[2].author.id | https://openalex.org/A5018385107 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-4494-8683 |
| authorships[2].author.display_name | Jeanne L. Theis |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I1330342723 |
| authorships[2].affiliations[0].raw_affiliation_string | Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, MN, USA |
| authorships[2].institutions[0].id | https://openalex.org/I1330342723 |
| authorships[2].institutions[0].ror | https://ror.org/02qp3tb03 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I1330342723 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Mayo Clinic |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Jeanne L. Theis |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, MN, USA |
| authorships[3].author.id | https://openalex.org/A5005550130 |
| authorships[3].author.orcid | https://orcid.org/0000-0001-5588-3216 |
| authorships[3].author.display_name | Zachary C. Fogarty |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210146710 |
| authorships[3].affiliations[0].raw_affiliation_string | Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA |
| authorships[3].institutions[0].id | https://openalex.org/I4210146710 |
| authorships[3].institutions[0].ror | https://ror.org/03zzw1w08 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I1330342723, https://openalex.org/I4210146710 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | Mayo Clinic in Florida |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Zachary C. Fogarty |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Division of Computational Biology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA |
| authorships[4].author.id | https://openalex.org/A5023725700 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-9055-758X |
| authorships[4].author.display_name | Maria A. Missinato |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[4].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[4].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[4].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[4].institutions[0].type | nonprofit |
| authorships[4].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Discovery Institute |
| authorships[4].institutions[1].id | https://openalex.org/I188891513 |
| authorships[4].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[4].institutions[1].type | nonprofit |
| authorships[4].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[4].institutions[1].country_code | US |
| authorships[4].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Maria Azzurra Missinato |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[5].author.id | https://openalex.org/A5035594127 |
| authorships[5].author.orcid | https://orcid.org/0000-0003-3495-3697 |
| authorships[5].author.display_name | Sreehari Kalvakuri |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[5].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[5].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[5].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[5].institutions[0].type | nonprofit |
| authorships[5].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Discovery Institute |
| authorships[5].institutions[1].id | https://openalex.org/I188891513 |
| authorships[5].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[5].institutions[1].type | nonprofit |
| authorships[5].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[5].institutions[1].country_code | US |
| authorships[5].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Sreehari Kalvakuri |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[6].author.id | https://openalex.org/A5021669433 |
| authorships[6].author.orcid | https://orcid.org/0000-0001-7215-3821 |
| authorships[6].author.display_name | Paul Grossfeld |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I4210087384 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Pediatrics, UCSD School of Medicine, La Jolla, Rady's Hospital MC 004, San Diego, CA, USA |
| authorships[6].institutions[0].id | https://openalex.org/I4210087384 |
| authorships[6].institutions[0].ror | https://ror.org/00414dg76 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I4210087384 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Rady Children's Hospital-San Diego |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Paul Grossfeld |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Pediatrics, UCSD School of Medicine, La Jolla, Rady's Hospital MC 004, San Diego, CA, USA |
| authorships[7].author.id | https://openalex.org/A5039405858 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-1642-5380 |
| authorships[7].author.display_name | Adam J. Engler |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210089535 |
| authorships[7].affiliations[0].raw_affiliation_string | Department of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, La Jolla, CA, USA |
| authorships[7].institutions[0].id | https://openalex.org/I4210089535 |
| authorships[7].institutions[0].ror | https://ror.org/00cemh325 |
| authorships[7].institutions[0].type | facility |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210089535 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Sanford Consortium for Regenerative Medicine |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Adam J. Engler |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Department of Bioengineering, Sanford Consortium for Regenerative Medicine, UCSD, School of Medicine, La Jolla, CA, USA |
| authorships[8].author.id | https://openalex.org/A5087552055 |
| authorships[8].author.orcid | https://orcid.org/0000-0003-2593-0119 |
| authorships[8].author.display_name | Karen Ocorr |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[8].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[8].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[8].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[8].institutions[0].type | nonprofit |
| authorships[8].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Discovery Institute |
| authorships[8].institutions[1].id | https://openalex.org/I188891513 |
| authorships[8].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[8].institutions[1].type | nonprofit |
| authorships[8].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[8].institutions[1].country_code | US |
| authorships[8].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Karen Ocorr |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[9].author.id | https://openalex.org/A5085716721 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-3862-7023 |
| authorships[9].author.display_name | Timothy J. Nelson |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4210125099 |
| authorships[9].affiliations[0].raw_affiliation_string | Center for Regenerative Medicine, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Division of General Internal Medicine, Department of Molecular and Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA |
| authorships[9].institutions[0].id | https://openalex.org/I4210125099 |
| authorships[9].institutions[0].ror | https://ror.org/03jp40720 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I1330342723, https://openalex.org/I4210125099 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | Mayo Clinic in Arizona |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Timothy J. Nelson |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Center for Regenerative Medicine, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Division of General Internal Medicine, Department of Molecular and Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA |
| authorships[10].author.id | https://openalex.org/A5079175915 |
| authorships[10].author.orcid | https://orcid.org/0000-0001-8489-0570 |
| authorships[10].author.display_name | Alexandre R. Colas |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[10].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[10].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[10].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[10].institutions[0].type | nonprofit |
| authorships[10].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Discovery Institute |
| authorships[10].institutions[1].id | https://openalex.org/I188891513 |
| authorships[10].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[10].institutions[1].type | nonprofit |
| authorships[10].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[10].institutions[1].country_code | US |
| authorships[10].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Alexandre R. Colas |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[11].author.id | https://openalex.org/A5064878571 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-2716-9423 |
| authorships[11].author.display_name | Timothy M. Olson |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I4210146710 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Cardiovascular Medicine, Division of Pediatric Cardiology, Department of Pediatric & Adolescent Medicine, Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, MN, USA |
| authorships[11].institutions[0].id | https://openalex.org/I4210146710 |
| authorships[11].institutions[0].ror | https://ror.org/03zzw1w08 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I1330342723, https://openalex.org/I4210146710 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Mayo Clinic in Florida |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Timothy M. Olson |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Cardiovascular Medicine, Division of Pediatric Cardiology, Department of Pediatric & Adolescent Medicine, Cardiovascular Genetics Research Laboratory, Mayo Clinic, Rochester, MN, USA |
| authorships[12].author.id | https://openalex.org/A5087686332 |
| authorships[12].author.orcid | https://orcid.org/0000-0002-8303-3531 |
| authorships[12].author.display_name | Georg Vogler |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[12].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[12].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[12].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[12].institutions[0].type | nonprofit |
| authorships[12].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | Discovery Institute |
| authorships[12].institutions[1].id | https://openalex.org/I188891513 |
| authorships[12].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[12].institutions[1].type | nonprofit |
| authorships[12].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[12].institutions[1].country_code | US |
| authorships[12].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Georg Vogler |
| authorships[12].is_corresponding | True |
| authorships[12].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[13].author.id | https://openalex.org/A5106441010 |
| authorships[13].author.orcid | https://orcid.org/0000-0001-9087-1210 |
| authorships[13].author.display_name | Rolf Bodmer |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| authorships[13].affiliations[0].raw_affiliation_string | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| authorships[13].institutions[0].id | https://openalex.org/I2799424032 |
| authorships[13].institutions[0].ror | https://ror.org/05t8s3y29 |
| authorships[13].institutions[0].type | nonprofit |
| authorships[13].institutions[0].lineage | https://openalex.org/I2799424032 |
| authorships[13].institutions[0].country_code | US |
| authorships[13].institutions[0].display_name | Discovery Institute |
| authorships[13].institutions[1].id | https://openalex.org/I188891513 |
| authorships[13].institutions[1].ror | https://ror.org/03m1g2s55 |
| authorships[13].institutions[1].type | nonprofit |
| authorships[13].institutions[1].lineage | https://openalex.org/I188891513 |
| authorships[13].institutions[1].country_code | US |
| authorships[13].institutions[1].display_name | Sanford Burnham Prebys Medical Discovery Institute |
| authorships[13].author_position | last |
| authorships[13].raw_author_name | Rolf Bodmer |
| authorships[13].is_corresponding | True |
| authorships[13].raw_affiliation_strings | Development, Aging and Regeneration Program, Center for Genetic Disorders & Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdf |
| open_access.oa_status | green |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-23T05:10:03.516525 |
| primary_topic.id | https://openalex.org/T11677 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9987999796867371 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | Congenital heart defects research |
| related_works | https://openalex.org/W4210769129, https://openalex.org/W2772601450, https://openalex.org/W2922472675, https://openalex.org/W2476798793, https://openalex.org/W2327892647, https://openalex.org/W91358004, https://openalex.org/W3082024267, https://openalex.org/W1977643006, https://openalex.org/W2030147755, https://openalex.org/W2336829704 |
| cited_by_count | 3 |
| 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 | 2 |
| locations_count | 1 |
| best_oa_location.id | doi:10.1101/2022.06.13.22276366 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4306402567 |
| best_oa_location.source.issn | |
| best_oa_location.source.type | repository |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | |
| best_oa_location.source.is_core | False |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| best_oa_location.source.host_organization | https://openalex.org/I2750212522 |
| best_oa_location.source.host_organization_name | Cold Spring Harbor Laboratory |
| best_oa_location.source.host_organization_lineage | https://openalex.org/I2750212522 |
| best_oa_location.license | cc-by-nc-nd |
| best_oa_location.pdf_url | https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdf |
| best_oa_location.version | acceptedVersion |
| best_oa_location.raw_type | posted-content |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | False |
| best_oa_location.raw_source_name | |
| best_oa_location.landing_page_url | https://doi.org/10.1101/2022.06.13.22276366 |
| primary_location.id | doi:10.1101/2022.06.13.22276366 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4306402567 |
| primary_location.source.issn | |
| primary_location.source.type | repository |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | |
| primary_location.source.is_core | False |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| primary_location.source.host_organization | https://openalex.org/I2750212522 |
| primary_location.source.host_organization_name | Cold Spring Harbor Laboratory |
| primary_location.source.host_organization_lineage | https://openalex.org/I2750212522 |
| primary_location.license | cc-by-nc-nd |
| primary_location.pdf_url | https://www.medrxiv.org/content/medrxiv/early/2022/06/16/2022.06.13.22276366.full.pdf |
| primary_location.version | acceptedVersion |
| primary_location.raw_type | posted-content |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| primary_location.is_accepted | True |
| primary_location.is_published | False |
| primary_location.raw_source_name | |
| primary_location.landing_page_url | https://doi.org/10.1101/2022.06.13.22276366 |
| publication_date | 2022-06-16 |
| publication_year | 2022 |
| referenced_works | https://openalex.org/W2943809572, https://openalex.org/W2623322330, https://openalex.org/W2524041289, https://openalex.org/W1989218648, https://openalex.org/W2117800899, https://openalex.org/W2112814753, https://openalex.org/W2141308280, https://openalex.org/W1993160376, https://openalex.org/W2049073959, https://openalex.org/W2505483709, https://openalex.org/W2110643873, https://openalex.org/W1606080659, https://openalex.org/W2269880005, https://openalex.org/W2015082418, https://openalex.org/W2742835296, https://openalex.org/W2126932378, https://openalex.org/W2422377060, https://openalex.org/W2209353711, https://openalex.org/W2098324477, https://openalex.org/W2039907011, https://openalex.org/W2145601137, https://openalex.org/W2076890216, https://openalex.org/W4298177602, https://openalex.org/W2918095385, https://openalex.org/W2096851897, https://openalex.org/W1980898099, https://openalex.org/W2034937344, https://openalex.org/W2763010484, https://openalex.org/W3029661147, https://openalex.org/W2074709591, https://openalex.org/W3212745881, https://openalex.org/W2568577966, https://openalex.org/W2024969564, https://openalex.org/W2028905487, https://openalex.org/W2412043356, https://openalex.org/W1107208185, https://openalex.org/W2025042700, https://openalex.org/W2619470987, https://openalex.org/W2067370329, https://openalex.org/W2103657800, https://openalex.org/W2170625616, https://openalex.org/W2117960107, https://openalex.org/W2119180969, https://openalex.org/W2563310243, https://openalex.org/W2039943610, https://openalex.org/W2109038505, https://openalex.org/W3092883939, https://openalex.org/W1649760191, https://openalex.org/W2009715420, https://openalex.org/W2770095154, https://openalex.org/W2126958666, https://openalex.org/W2199230862, https://openalex.org/W2253924460, https://openalex.org/W2289876562, https://openalex.org/W2945577920, https://openalex.org/W2062030401, https://openalex.org/W1244800786, https://openalex.org/W2153031519, https://openalex.org/W3090607968, https://openalex.org/W3112012115, https://openalex.org/W4210839451, https://openalex.org/W4223929309, https://openalex.org/W1191391069, https://openalex.org/W2543547374, https://openalex.org/W2325677894, https://openalex.org/W6969057568, https://openalex.org/W3125687851, https://openalex.org/W2022242255, https://openalex.org/W2014484038, https://openalex.org/W2125655548, https://openalex.org/W2794105756, https://openalex.org/W2020506380, https://openalex.org/W2615483894, https://openalex.org/W2126206178, https://openalex.org/W2138283132, https://openalex.org/W2604531607, https://openalex.org/W2906134610 |
| referenced_works_count | 77 |
| abstract_inverted_index.. | 199 |
| abstract_inverted_index.9 | 95 |
| abstract_inverted_index.a | 7, 14, 41, 78, 89, 255, 280 |
| abstract_inverted_index.60 | 208 |
| abstract_inverted_index.KD | 152, 226 |
| abstract_inverted_index.Of | 104 |
| abstract_inverted_index.We | 33 |
| abstract_inverted_index.an | 73, 201 |
| abstract_inverted_index.by | 150 |
| abstract_inverted_index.in | 58, 121, 169, 195, 213, 221, 229, 260 |
| abstract_inverted_index.is | 6, 31, 275 |
| abstract_inverted_index.of | 21, 44, 69, 77, 114, 128, 153, 157, 178, 181, 227, 234, 254, 258, 264, 271, 283 |
| abstract_inverted_index.on | 40 |
| abstract_inverted_index.or | 197, 242 |
| abstract_inverted_index.to | 29, 50, 82, 87, 147, 277, 279 |
| abstract_inverted_index.we | 206 |
| abstract_inverted_index.(E3 | 239 |
| abstract_inverted_index.183 | 179 |
| abstract_inverted_index.ATP | 135, 154 |
| abstract_inverted_index.ETC | 174 |
| abstract_inverted_index.RNA | 235 |
| abstract_inverted_index.WGS | 70 |
| abstract_inverted_index.and | 25, 47, 64, 85, 131, 137, 173, 268, 285 |
| abstract_inverted_index.but | 18 |
| abstract_inverted_index.fly | 223 |
| abstract_inverted_index.for | 62, 204, 216 |
| abstract_inverted_index.our | 19 |
| abstract_inverted_index.set | 257 |
| abstract_inverted_index.the | 22, 105, 158, 165, 251 |
| abstract_inverted_index.(KD) | 113 |
| abstract_inverted_index.HLHS | 30, 45, 79, 107, 182, 188, 284 |
| abstract_inverted_index.II), | 237 |
| abstract_inverted_index.born | 81 |
| abstract_inverted_index.data | 71 |
| abstract_inverted_index.five | 186 |
| abstract_inverted_index.from | 72 |
| abstract_inverted_index.gene | 108 |
| abstract_inverted_index.have | 88 |
| abstract_inverted_index.lead | 278 |
| abstract_inverted_index.left | 2 |
| abstract_inverted_index.role | 168 |
| abstract_inverted_index.that | 54 |
| abstract_inverted_index.then | 56 |
| abstract_inverted_index.were | 55, 145 |
| abstract_inverted_index.with | 13, 98, 164, 190, 219, 231 |
| abstract_inverted_index.(CHD) | 12 |
| abstract_inverted_index.(WGS) | 39 |
| abstract_inverted_index.CHDs. | 287 |
| abstract_inverted_index.Cdk12 | 232 |
| abstract_inverted_index.HLHS, | 205 |
| abstract_inverted_index.HLHS. | 261 |
| abstract_inverted_index.MICOS | 116, 166 |
| abstract_inverted_index.actin | 130 |
| abstract_inverted_index.basis | 203 |
| abstract_inverted_index.cases | 215 |
| abstract_inverted_index.chain | 161 |
| abstract_inverted_index.genes | 53, 97, 212, 267 |
| abstract_inverted_index.heart | 3, 10, 60, 124, 143, 248 |
| abstract_inverted_index.index | 74 |
| abstract_inverted_index.large | 42 |
| abstract_inverted_index.model | 61 |
| abstract_inverted_index.novel | 265 |
| abstract_inverted_index.other | 286 |
| abstract_inverted_index.rare, | 99, 191 |
| abstract_inverted_index.their | 48 |
| abstract_inverted_index.these | 142, 214 |
| abstract_inverted_index.those | 148 |
| abstract_inverted_index.trios | 184 |
| abstract_inverted_index.whole | 36 |
| abstract_inverted_index.(ETC), | 162 |
| abstract_inverted_index.(HLHS) | 5 |
| abstract_inverted_index.CHCHD3 | 196 |
| abstract_inverted_index.CHCHD6 | 198 |
| abstract_inverted_index.RNF149 | 238 |
| abstract_inverted_index.SPTBN1 | 243 |
| abstract_inverted_index.better | 281 |
| abstract_inverted_index.caused | 246 |
| abstract_inverted_index.cohort | 43 |
| abstract_inverted_index.family | 75 |
| abstract_inverted_index.genome | 37 |
| abstract_inverted_index.levels | 127 |
| abstract_inverted_index.likely | 15 |
| abstract_inverted_index.severe | 8 |
| abstract_inverted_index.tested | 57, 207 |
| abstract_inverted_index.Further | 262 |
| abstract_inverted_index.cardiac | 134, 151 |
| abstract_inverted_index.complex | 117, 175 |
| abstract_inverted_index.cristae | 171 |
| abstract_inverted_index.defects | 144 |
| abstract_inverted_index.disease | 11, 92 |
| abstract_inverted_index.diverse | 256 |
| abstract_inverted_index.genetic | 23, 217, 269 |
| abstract_inverted_index.genomes | 180 |
| abstract_inverted_index.hearts. | 224 |
| abstract_inverted_index.leading | 28 |
| abstract_inverted_index.levels, | 136 |
| abstract_inverted_index.myosin, | 132 |
| abstract_inverted_index.parents | 84 |
| abstract_inverted_index.proband | 80 |
| abstract_inverted_index.reduced | 133 |
| abstract_inverted_index.similar | 146 |
| abstract_inverted_index.subunit | 118 |
| abstract_inverted_index.tested, | 110 |
| abstract_inverted_index.ABSTRACT | 0 |
| abstract_inverted_index.Analysis | 177 |
| abstract_inverted_index.CHCHD3/6 | 220, 228 |
| abstract_inverted_index.Moderate | 225 |
| abstract_inverted_index.analysis | 68 |
| abstract_inverted_index.damaging | 101, 193 |
| abstract_inverted_index.defects, | 249 |
| abstract_inverted_index.defects. | 140 |
| abstract_inverted_index.electron | 159 |
| abstract_inverted_index.expected | 276 |
| abstract_inverted_index.families | 49 |
| abstract_inverted_index.homologs | 109 |
| abstract_inverted_index.identify | 51 |
| abstract_inverted_index.ligase), | 241 |
| abstract_inverted_index.limited. | 32 |
| abstract_inverted_index.pathways | 259, 274 |
| abstract_inverted_index.patients | 46 |
| abstract_inverted_index.probands | 189 |
| abstract_inverted_index.protein) | 245 |
| abstract_inverted_index.resulted | 120 |
| abstract_inverted_index.revealed | 185 |
| abstract_inverted_index.subunits | 156 |
| abstract_inverted_index.syndrome | 4 |
| abstract_inverted_index.synthase | 155 |
| abstract_inverted_index.variants | 194 |
| abstract_inverted_index.assembly. | 176 |
| abstract_inverted_index.candidate | 52, 96, 106, 211, 266 |
| abstract_inverted_index.comprised | 76 |
| abstract_inverted_index.dCHCHD3/6 | 119 |
| abstract_inverted_index.etiology, | 17, 93 |
| abstract_inverted_index.inflicted | 149 |
| abstract_inverted_index.knockdown | 112 |
| abstract_inverted_index.performed | 35 |
| abstract_inverted_index.potential | 252 |
| abstract_inverted_index.predicted | 100, 192 |
| abstract_inverted_index.recessive | 91 |
| abstract_inverted_index.therefore | 34 |
| abstract_inverted_index.transport | 160 |
| abstract_inverted_index.ubiquitin | 240 |
| abstract_inverted_index.variants. | 103 |
| abstract_inverted_index.(activator | 233 |
| abstract_inverted_index.Drosophila | 59 |
| abstract_inverted_index.additional | 187, 209 |
| abstract_inverted_index.congenital | 9 |
| abstract_inverted_index.consistent | 163 |
| abstract_inverted_index.diminished | 126 |
| abstract_inverted_index.functional | 63 |
| abstract_inverted_index.homozygous | 90, 102 |
| abstract_inverted_index.mechanisms | 27 |
| abstract_inverted_index.morphology | 172 |
| abstract_inverted_index.oligogenic | 16, 202 |
| abstract_inverted_index.pathogenic | 26 |
| abstract_inverted_index.polymerase | 236 |
| abstract_inverted_index.postulated | 86 |
| abstract_inverted_index.sarcomeric | 129 |
| abstract_inverted_index.sensitized | 222 |
| abstract_inverted_index.sequencing | 38 |
| abstract_inverted_index.structural | 65 |
| abstract_inverted_index.suggesting | 250 |
| abstract_inverted_index.Hypoplastic | 1 |
| abstract_inverted_index.combination | 230 |
| abstract_inverted_index.complex’s | 167 |
| abstract_inverted_index.compromised | 123 |
| abstract_inverted_index.drastically | 122 |
| abstract_inverted_index.elucidation | 263 |
| abstract_inverted_index.involvement | 253 |
| abstract_inverted_index.maintaining | 170 |
| abstract_inverted_index.potentially | 272 |
| abstract_inverted_index.prioritized | 94, 210 |
| abstract_inverted_index.synergistic | 247 |
| abstract_inverted_index.(scaffolding | 244 |
| abstract_inverted_index.complexities | 24 |
| abstract_inverted_index.interactions | 218, 270 |
| abstract_inverted_index.Bioinformatic | 67 |
| abstract_inverted_index.Hypothesizing | 200 |
| abstract_inverted_index.mitochondrial | 115, 138 |
| abstract_inverted_index.requirements. | 66 |
| abstract_inverted_index.understanding | 20, 282 |
| abstract_inverted_index.Interestingly, | 141 |
| abstract_inverted_index.consanguineous | 83 |
| abstract_inverted_index.contractility, | 125 |
| abstract_inverted_index.fission-fusion | 139 |
| abstract_inverted_index.patient-parent | 183 |
| abstract_inverted_index.cardiac-specific | 111 |
| abstract_inverted_index.disease-contributing | 273 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5087686332, https://openalex.org/A5106441010 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 14 |
| corresponding_institution_ids | https://openalex.org/I188891513, https://openalex.org/I2799424032 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7400000095367432 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.53680392 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |