Céline Chéry
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View article: Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel <i>SERPINA1</i> variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype
Exome‐based genotype‐first reverse phenotyping using structured electronic health record data identifies novel <i>SERPINA1</i> variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype Open
Aim Although several SERPINA1 genetic variants have been reported for their pathogenicity to induce liver disorders through phenotype‐driven approaches, data regarding genotype‐driven approaches of the SERPINA1 locus remain unavailable. Th…
View article: Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability Open
French Agence Nationale de la Recherche (Projects PREDICTS and EpiGONE) and Inserm.
View article: Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases Open
Background Clinical exome sequencing (CES) provides a comprehensive and effective analysis of relevant disease-associated genes in a cost-effective manner compared to whole exome sequencing. Although several studies have focused on the dia…
View article: Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players
Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players Open
Stem cells are a population of undifferentiated cells with self-renewal and differentiation capacities. Normal and cancer stem cells share similar characteristics in relation to their stemness properties. One-carbon metabolism (OCM), a net…
View article: Low-frequency Coding Variants Associated With Body Mass Index Affect the Success of Bariatric Surgery
Low-frequency Coding Variants Associated With Body Mass Index Affect the Success of Bariatric Surgery Open
Context A recent study identified 14 low-frequency coding variants associated with body mass index (BMI) in 718 734 individuals predominantly of European ancestry. Objective We investigated the association of 2 genetic scores (GS) with i) …
View article: Next‐generation sequencing and genotype association studies reveal the association of <i>HLA‐DRB3*02:02</i> with delayed hypersensitivity to penicillins
Next‐generation sequencing and genotype association studies reveal the association of <i>HLA‐DRB3*02:02</i> with delayed hypersensitivity to penicillins Open
Background Nonimmediate (delayed)‐allergic reactions to penicillins are common and some of them can be life‐threatening. The genetic factors influencing these reactions are unknown/poorly known/poorly understood. We assessed the genetic pr…
View article: Integrative genomics analysis of nasal intestinal-type adenocarcinomas demonstrates the major role of CACNA1C and paves the way for a simple diagnostic tool in male woodworkers
Integrative genomics analysis of nasal intestinal-type adenocarcinomas demonstrates the major role of CACNA1C and paves the way for a simple diagnostic tool in male woodworkers Open
Background Nasal intestinal-type adenocarcinomas (ITAC) are strongly related to chronic wood dust exposure: The intestinal phenotype relies on CDX2 overexpression but underlying molecular mechanisms remain unknown. Our objectives were to i…
View article: Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study Open
The emergence of next-generation sequencing enabled a cost-effective and straightforward diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels. We performed a retrospective observational study to assess the …
View article: Next-Generation Sequencing and Genotype Association Studies Reveal the Association of HLA-DRB3*02:02 With Delayed Hypersensitivity to Penicillins
Next-Generation Sequencing and Genotype Association Studies Reveal the Association of HLA-DRB3*02:02 With Delayed Hypersensitivity to Penicillins Open
Background: Nonimmediate (delayed) allergic reactions to penicillins are common and some of them can be life-threatening. The genetic factors influencing these reactions are unknown/poorly known/poorly understood. We assessed the genetic p…
View article: Elastase and exacerbation of neutrophil innate immunity are involved in multi‐visceral manifestations of COVID‐19
Elastase and exacerbation of neutrophil innate immunity are involved in multi‐visceral manifestations of COVID‐19 Open
Background Many arguments suggest that neutrophils could play a prominent role in COVID‐19. However, the role of key components of neutrophil innate immunity in severe forms of COVID‐19 has deserved insufficient attention. We aimed to eval…
View article: Additional file 11 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 11 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 11: Tables S6. Results from enrichment analyses that used the CpG probes exhibiting a difference of β values >0.1 (a) or 0.1 in HepG2 (c), MeWo (d), MeWo-LC1 (e), and U251 (f). Results from enrichment analyses that used the…
View article: Additional file 6 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 6 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 6: Table S2. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing “End_Irradiation” vs. “End_No irradiation or Baseline” conditions in th…
View article: Additional file 5 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 5 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 5: Table S1b. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing End_Irradiation” vs. “End_No irradiation” conditions.
View article: Additional file 8 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 8 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 8: Table S4. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing “End_Irradiation” vs. “End_No irradiation or Baseline” conditions in th…
View article: Additional file 7 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 7 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 7: Table S3. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing “End_Irradiation” vs. “End_No irradiation or Baseline” conditions in th…
View article: Additional file 13 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 13 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 13: Table S7. Results from enrichment analyses that used the CpG probes with beta regression coefficient values > 200 (a) and
View article: Additional file 9 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 9 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 9: Table S5. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing “End_Irradiation” vs. “End_No irradiation or Baseline” conditions in th…
View article: Additional file 4 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
Additional file 4 of Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency Open
Additional file 4: Table S1a. Results from the epigenome-wide association study that assessed the effect of ionizing radiations on the DNA methylation profile comparing “End_Irradiation” vs. “End_No irradiation or Baseline” conditions.
View article: Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency
Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency Open
Methionine dependency of tumor growth, although not well-understood, is detectable by 11 C-methionine positron emission tomography and may contribute to the aggressivity of glioblastomas (GBM) and meningiomas. Cytosolic folate cycle is req…
View article: Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients Open
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versio…
View article: <i>BRIP1</i>coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease
<i>BRIP1</i>coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease Open
The molecular mechanisms of hepatocellular carcinoma (HCC) carcinogenesis are still not fully understood. DNA repair defects may influence HCC risk. The aim of the study was to look for potential genetic variants of DNA repair genes associ…