Cathy Obringer
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View article: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability Open
Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing …
View article: Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome Open
Nucleotide excision repair (NER) disorders are genetic conditions caused by defects in the pathway responsible for repairing DNA lesions due to UV radiation. These defects lead to a variety of heterogeneous disorders, including Cockayne sy…
View article: PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo
PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo Open
Adipose tissue is a key regulator of whole-body metabolic fitness because of its role in controlling insulin sensitivity. Obesity is associated with hypertrophic adipocytes with impaired glucose absorption, a phenomenon existing in the ult…
View article: PATAS, a first-in-class therapeutic peptide biologic, improves whole-body insulin resistance and associated comorbidities in vivo
PATAS, a first-in-class therapeutic peptide biologic, improves whole-body insulin resistance and associated comorbidities in vivo Open
Adipose tissue is a key regulator of whole-body metabolic fitness because of its role in controlling insulin sensitivity. Obesity is associated with hypertrophic adipocytes with impaired glucose absorption; a phenomenon existing in the u…
View article: PATAS, a first-in-class therapeutic peptide biologic, improves whole-body insulin resistance and associated comorbidities in vivo
PATAS, a first-in-class therapeutic peptide biologic, improves whole-body insulin resistance and associated comorbidities in vivo Open
Adipose tissue is a key regulator of whole-body metabolic fitness because of its role in controlling insulin sensitivity. Obesity is associated with hypertrophic adipocytes with impaired glucose absorption; a phenomenon existing in the u…
View article: Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B Open
Cockayne syndrome is a rare condition that encompasses a very wide spectrum of clinical severity. Mutations upstream of a transposon called PiggyBac Transposable Element Derived 3 in intron 5 of the CSB/ERCC6 gene could bring about less se…
View article: Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B Open
Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype. After clinical …
View article: Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice
Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice Open
Barded-Biedl syndrome (BBS) is a rare genetic disorder with an unmet medical need for retinal degeneration. Small-molecule drugs were previously identified to slow down the apoptosis of photoreceptors in BBS mouse models. Clinical translat…
View article: Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings Open
Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6 /CSB or ERCC8/ CSA that participate in transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients di…
View article: Diagnostic and severity scores for Cockayne syndrome
Diagnostic and severity scores for Cockayne syndrome Open
Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onse…
View article: Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance Open
Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to a lack of intermediary monogenic human phenotypes. Here, we report o…
View article: Relative adipose tissue failure in Alström syndrome drives obesity-induced insulin resistance
Relative adipose tissue failure in Alström syndrome drives obesity-induced insulin resistance Open
Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to a lack of intermediary monogenic human phenotypes. Here, we report o…
View article: Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome
Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome Open
View article: In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies
In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies Open
View article: Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome Open
Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. Abou…
View article: Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome Open
View article: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
View article: Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
Poorly covered amplicons (mean coverage
View article: Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
POLH founder mutation in Northern Spain. Haplotype analysis was performed on the 6 XP-variant patients coming from Northern Spain with mutations in the POLH gene (chr6:43,543,878-43,588,260[hg19]). Despite a genome wide study using the Ill…
View article: Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Open
Spectrum of previously identified variations within the validation cohort of 11 patients. 11 patients already tested by Sanger sequencing of ERCC6(CSB) and/or ERCC8(CSA) genes were explored by targeted NGS strategy. All 63 previously ident…
View article: Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice Open
These data highlight the importance of a systemic Bbs10 inactivation to trigger averted renal dysfunction whereas a targeted absence of BBS10 in the renal epithelium is seemingly non-deleterious.
View article: The study of a total and two hypothalamic-specific BBS10 knockout models highlights the importance of systemic inactivation in the obese phenotype in Bardet Biedl Syndrome
The study of a total and two hypothalamic-specific BBS10 knockout models highlights the importance of systemic inactivation in the obese phenotype in Bardet Biedl Syndrome Open
The autosomal recessive disorder, Bardet-Biedl syndrome (BBS) is an iconic ciliopathy, clinically characterized by obesity, retinopathy, polydactyly and renal dysfunction. To date, 19 BBS genes have been identified, with BBS10 being one of…
View article: Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy Open
View article: Additional file 2: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
Additional file 2: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice Open
Figure S1. Schematic representation of the DNA construct for the Knock out Allele.
View article: Additional file 4: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
Additional file 4: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice Open
Figure S3. Apoptosis of photoreceptors in Bbs10 −/− mice. Immunofluorescence of 7 µm thick retinal sections from Bbs10 +/+ and Bbs10 −/− mice. Fluorescence signal in green correspond to TUNEL signal and in blue the nuclei counterstained wi…
View article: Additional file 3: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice
Additional file 3: of Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice Open
Figure S2. Bbs10 fl/fl ; Cadh16Cre +/− mice model. (A) Immunostaining of Cre recombinase on kidney sections of WT and Bbs10 fl/fl ; Cadh16Cre +/− mice counterstained with DAPI. (B) Fluorescence images of kidney sections from RosaTomatoeGFP…