28 Result(s)

Article

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. The NOBOX gene was considered one of the major genetic causes ...

Pénélope Jordan, Camille Verebi… in Journal of Assisted Reproduction and Genet… (2024)

Article

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa

Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. Up to now, four genome-wide association studies of AN...

Thierry Bienvenu, Nicolas Lebrun… in Eating and Weight Disorders - Studies on A… (2020)

Article

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology

Anorexia nervosa (AN) is a severe debilitating eating disorder. To date, only very few genes that predispose to AN have been identified. An alternative to association studies is to characterize ultra-rare vari...

Thierry Bienvenu, Nicolas Lebrun, Julia Clarke… in Journal of Neural Transmission (2019)

Article

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner Syndrome

A growing number of histone modifiers are involved in human neurodevelopmental disorders, suggesting that proper regulation of chromatin state is essential for the development of the central nervous system. Am...

Léo Mietton, Nicolas Lebrun, Irina Giurgea, Alice Goldenberg… in NeuroMolecular Medicine (2018)

Article

Astrocyte Transcriptome from the Mecp2³⁰⁸-Truncated Mouse Model of Rett Syndrome

Mutations in the gene encoding the transcriptional modulator methyl-CpG binding protein 2 (MeCP2) are responsible for the neurodevelopmental disorder Rett syndrome which is one of the most frequent sources of...

Chloé Delépine, Juliette Nectoux, Franck Letourneur… in NeuroMolecular Medicine (2015)

Article

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2^308/y Mouse Model

Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in methyl-CpG-binding protein 2 (MECP2), which encodes a transcriptional modulator of many genes including BDNF. BDNF comprises nine ...

Audrey Rousseaud, Chloé Delépine, Juliette Nectoux… in Journal of Molecular Neuroscience (2015)

Article

Refining the phenotype associated with MEF2C point mutations

Up to now, only five-point mutations in the MEF2C gene have been described in patients with severe mental retardation with absent speech, limited walking abilities, epilepsy, and lack of gross malformations. In b...

Thierry Bienvenu, Bertrand Diebold, Jamel Chelly, Bertrand Isidor in neurogenetics (2013)

Article

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

Mutations in the FOXG1 gene have been shown to cause congenital variant of Rett syndrome. To date, point mutations have been reported only in female patients. We screened the entire coding region of the gene for ...

Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, Nathalie Boddaert… in neurogenetics (2011)

Article

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy

Mutations in the human CDKL5 gene have been shown to cause infantile spasms, as well as Rett syndrome-like phenotype. Because CDKL5 is subjected to X chromosome inactivation (XCI), individual cells from CDKL5 mut...

Juliette Nectoux, Yann Fichou, Nicolas Cagnard… in Journal of Molecular Medicine (2011)

Article

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

The Forkhead box G1 (FOXG1) is a transcription factor that is critical for forebrain development, where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was imp...

Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Hilde Van Esch… in neurogenetics (2010)

Article

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

We report the identification of the first de novo mutation at a highly conserved residue within the polyalanine stretch in the N-terminal region of the brain-dominant protein isoform MeCP2_e1 in a girl with cl...

Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, Haydeé Rosas-Vargas… in neurogenetics (2009)

Article

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

Article

No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men

Purpose: Recently, partial DAZ deletions on the Y chromosome were identified in infertile men. To determine the clinical importance of partial DAZ deletion, we studied the number of DAZ copies in a well-defined p...

Anne Claire Lepretre, Catherine Patrat… in Journal of Assisted Reproduction and Genet… (2005)