Publications by authors named "J-F Deleuze"
Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studies involving antithrombin, PC, and PS were limited by modest sample sizes or by being restricted to candidate genes. In the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, we meta-analyzed across ancestries the results from 10 genome-wide association studies of plasma levels of antithrombin, PC, PS free, and PS total.
View Article and Find Full Text PDFBackground: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources.
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- Marinesco-Sjögren syndrome is a rare disorder caused by mutations in SIL1, characterized by cataracts, myopathy, and ataxia, while similar symptoms are seen in a recently identified disorder related to INPP5K mutations.
- This research expands knowledge by presenting six new INPP5K patients and demonstrating clinical similarities with Marinesco-Sjögren syndrome, alongside discovering a common protein alteration in both disorders.
- The study suggests that l-serine could be a potential treatment, showing positive effects on neuronal issues in zebrafish models for both diseases, establishing a shared molecular mechanism across these rare conditions.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
January 2021
Objective: Primary hypobetalipoproteinemia is characterized by LDL-C (low-density lipoprotein cholesterol) concentrations below the fifth percentile. Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the (apolipoprotein B) and genes, and a polygenic origin is hypothesized in the remaining cases. Hypobetalipoproteinemia patients present an increased risk of nonalcoholic fatty liver disease and steatohepatitis.
View Article and Find Full Text PDFObjective: To characterize 2 unrelated patients with either asymmetric or unilateral muscle weakness at the clinical, genetic, histologic, and ultrastructural level.
Methods: The patients underwent thorough clinical examination, whole-body MRI, and exome sequencing. Muscle morphology was assessed by histology and electron microscopy.
Objective: To study the genetic and phenotypic spectrum of patients harboring recessive mutations in .
Methods: We performed whole-exome sequencing in a multicenter cohort of 1929 patients with a suspected hereditary myopathy, showing unexplained limb-girdle muscular weakness and/or elevated creatine kinase levels. Immunohistochemistry and mRNA experiments on patients' skeletal muscle tissue were performed to study the pathogenicity of identified loss-of-function (LOF) variants in .
Article Synopsis
- The study aimed to explore the link between the PCDH12 gene and brain calcifications in a child with a specific genetic variant and other adult patients with brain calcifications.
- Researchers conducted a CT scan on one child and analyzed DNA from 79 patients, including those with known familial brain calcifications and those with unknown causes.
- Findings revealed unique calcification patterns in the child that resemble those seen in in utero infections, and while 3 rare genetic variants were found in unrelated PFBC patients, no definitive connection to PCDH12 was established.
Objective: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting.
Methods: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls.
Results: After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.
Objectives: In a large family of Algerian origin, we aimed to identify the genetic mutation segregating with simultaneous presence of adult-onset, paucisymptomatic, slowly progressive, cerebellar ataxia in 7 adults and congenital ataxia in 1 child, and then to assess the involvement of GRID2 mutations in 144 patients with congenital cerebellar ataxia.
Methods: We used a combined approach of linkage analysis and whole-exome sequencing in one family, and a targeted gene panel sequencing approach in 144 congenital ataxias.
Results: In the large family with spinocerebellar ataxia, we identified a missense mutation (c.