Marine Tessarech
A5066783958- RNA modifications and cancer
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Tuberous Sclerosis Complex Research
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Peptidase Inhibition and Analysis
- Chromatin Remodeling and Cancer
- Glycogen Storage Diseases and Myoclonus
- Genetic factors in colorectal cancer
- Eosinophilic Esophagitis
- Oral Health Pathology and Treatment
- Genetics, Aging, and Longevity in Model Organisms
- Tumors and Oncological Cases
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Cancer-related gene regulation
- Genetic and rare skin diseases.
- Respiratory and Cough-Related Research
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
Université d'Angers
2017-2025
Inserm
2017-2025
Centre Hospitalier Universitaire d'Angers
2024-2025
Centre National de la Recherche Scientifique
2017-2025
PurposeThis study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.MethodsIndividuals protein altering variants in were identified through exome and genome sequencing international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation assessed using Infinium MethylationEPIC array. The expression pattern developing human brain defined RNAscope.ResultsWe reported 38 new patients variants....
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). belongs to PBAF, unit of the SWI/SNF complex, which is chromatin remodeling complex. This work aims further delineate phenotypic spectrum ARID2-RD, providing clinicians with additional data better care and aid future diagnosis this condition. We obtained genotypes phenotypes 27 previously unreported individuals ARID2-RD compared series findings...
Purpose Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation GABAergic interneurons resulting in broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, schizophrenic disorders. SP9 is transcription factor belonging to the Krüppel-like specificity protein family, members which harbor highly conserved DNA binding domains. plays central role interneuron...
Abstract The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons is required for regeneration C. elegans . homologues vertebrates, Disco‐interacting homolog A ( DIP2A ), B DIP2B C DIP2C are highly conserved expressed widely central nervous system. Although there...
Abstract RING Finger Protein 113 A ( RNF113A , MIM 300951) is a highly conserved gene located on chromosome Xq24‐q25, encoding protein containing two zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of namely c.901C>T; p.Gln301Ter, has been reported humans by Tarpey et al. 2009. Thereafter, Corbett stated that this was responsible for an X‐linked form nonphotosensitive trichothiodystrophy associated with profound...
<title>Abstract</title> We describe eighteen individuals from twelve families with an autosomal recessive neurodevelopmental disorder and variable leukodystrophy harbouring biallelic variants in <italic>SUPV3L1</italic>. <italic>SUPV3L1</italic> encodes the RNA helicase SUV3 (also known as SUPV3L1), previous studies demonstrating a role for protein part of mitochondrial degradosome. Patient mutations result accumulation double stranded RNAs human cells. An assessment <italic>supv3l1</italic>...