Nicolas Derive
A5031181706- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- BRCA gene mutations in cancer
- Microtubule and mitosis dynamics
- Mitochondrial Function and Pathology
- Chromosomal and Genetic Variations
- Genetic and Kidney Cyst Diseases
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Health Systems, Economic Evaluations, Quality of Life
- Genomics and Chromatin Dynamics
- Genetic Neurodegenerative Diseases
- Fetal and Pediatric Neurological Disorders
- Ion Transport and Channel Regulation
- Sarcoma Diagnosis and Treatment
- Renal and related cancers
- Hereditary Neurological Disorders
- Chromatin Remodeling and Cancer
- Cancer-related gene regulation
- Ubiquitin and proteasome pathways
- Peptidase Inhibition and Analysis
Technologie Médicale (France)
2024
Institut Curie
2016-2021
Institut Européen de Chimie et Biologie
2015
Institut de Biochimie et Génétique Cellulaires
2014-2015
Université de Bordeaux
2015
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity multiple cancer syndrome genes. Independent data types currently incorporated in the model assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability based on location bioinformatic prediction effect, co-segregation, family history profile, co-occurrence with a pathogenic same gene, breast tumor pathology, case-control information. Research...
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance variants becomes ever more acute. Germline in BRCA1 and BRCA2 genes can confer substantial lifetime risk breast ovarian cancer. Assessment variant pathogenicity is a vital part testing for these genes. A database observations BRCA critical resource that process. This article describes Share™, created by unique international alliance academic centers commercial...
Abstract Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B H3F3B ) [1–4]. This characterized developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative de novo heterozygous either or Here, we analyze data of 58 previously published...
The presence of DNA double-strand breaks during mitosis is particularly challenging for the cell, as it produces broken chromosomes lacking a centromere. This situation can cause genomic instability resulting from improper segregation fragments into daughter cells. We recently uncovered process by which are faithfully transmitted via BubR1-dependent tethering two chromosome ends. However, mechanisms underlying BubR1 recruitment and function on were largely unknown. show that requires...
ABSTRACT Background Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts affected individuals sufficiently large to establish new gene–disease relationships can be challenging. Objective We sought expand the catalogue monogenic etiologies for dystonia. Methods After discovery a candidate variant in multicenter exome‐sequenced cohort with dystonia, we queried online platforms and genomic data repositories worldwide identify subjects matching genotypic profiles. Results...
Abstract By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three from the same family, a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth adenoid tissue. All harbored rare heterozygous variant in ZBTB7A which encodes transcription factor Zinc finger BTB‐domain containing protein 7A, known play role lympho‐ hematopoiesis. ID was generally mild. Fetal hemoglobin (HbF) fraction elevated 2.2%–11.2% (reference...
ABSTRACT Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function Purkinje‐cell integrity the cerebellum. A recent case series linked a novel entity, characterized neurodevelopmental movement phenotypes, only seven individuals. We called collaboration collect five unpublished families affected new rare...
Background/Objectives: Biallelic mutations in the PTRH2 gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic (IMNEPD). In this study, we describe new case carrying previously identified mutation, provide an updated analysis of relative frequencies clinical features across all published cases (including three latest studies), perform bioinformatics newly protein variants from structural perspective. Methods: Clinical...
Ciliopathies are rare genetic disorders caused by dysfunction of the primary or motile cilia. Their mode inheritance is mostly autosomal recessive with biallelic pathogenic variants inherited from parents. However, exceptions exist such as uniparental disomy (UPD) appearance a de novo variant in trans an variant. These two mechanisms expected to be extremely rare, and few data available literature, especially regarding ciliopathies. In this study, we investigated 940 individuals (812...