Nicolas Le May

Strasbourg, France

Last Updated: 09/26/2026

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Found 19 publications

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Journal: Clinical genetics
Published: March 05, 2025

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.

Journal: Frontiers in neuroscience
Published: December 31, 2024

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

Journal: Nature communications
Published: December 20, 2023

Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.

Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.

Journal: Journal of assisted reproduction and genetics
Published: October 12, 2023

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

Journal: International journal of molecular sciences
Published: March 31, 2023

Phosphorylation of XPD drives its mitotic role independently of its DNA repair and transcription functions.

Phosphorylation of XPD drives its mitotic role independently of its DNA repair and transcription functions.

Journal: Science advances
Published: August 17, 2022

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.

Journal: Frontiers in genetics
Published: August 27, 2021

Diagnostic and severity scores for Cockayne syndrome.

Diagnostic and severity scores for Cockayne syndrome.

Journal: Orphanet journal of rare diseases
Published: October 21, 2020

Growth charts in Cockayne syndrome type 1 and type 2.

Growth charts in Cockayne syndrome type 1 and type 2.

Journal: European journal of medical genetics
Published: September 03, 2020

Activation of P-TEFb by RBM7: To Live or Let Die.

Activation of P-TEFb by RBM7: To Live or Let Die.

Journal: Molecular cell
Published: April 20, 2019

DNA repair complex licenses acetylation of H2A.Z.1 by KAT2A during transcription.

DNA repair complex licenses acetylation of H2A.Z.1 by KAT2A during transcription.

Journal: Nature chemical biology
Published: December 20, 2018

Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.

Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.

Journal: Nature communications
Published: May 28, 2018
Showing 1-12 of 19

Last Updated: 09/26/2026