Stallmeyer B, Bühlmann C, Stakaitis R, Dicke AK, Ghieh F, Meier L, Zoch A, MacKenzie MacLeod D, Steingröver J, Okutman Ö, Fietz D, Pilatz A, Riera-Escamilla A, Xavier MJ, Ruckert C, Di Persio S, Neuhaus N, Gurbuz AS, Şalvarci A, Le May N, McEleny K, Friedrich C, van der Heijden G, Wyrwoll MJ, Kliesch S, Veltman JA, Krausz C, Viville S, Conrad DF, O'Carroll D, Tüttelmann F

Nat Commun. 2024 08 9;15(1):6637

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

Okutman O, Gürbüz AS, Büyük U, Real E, Leconte R, Chennen K, Mayer C, Muller J, Le May N, Viville S

J Assist Reprod Genet. 2024 01 5;:

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

Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J

Int J Mol Sci. 2023 05 13;24(10):

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

Compe E, Pangou E, Le May N, Elly C, Braun C, Hwang JH, Coin F, Sumara I, Choi KW, Egly JM

Sci Adv. 2022 08 19;8(33):eabp9457

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

Damaj-Fourcade R, Meyer N, Obringer C, Le May N, Calmels N, Laugel V

Front Genet. 2022 ;13:762047

Transcription without XPB Establishes a Unified Helicase-Independent Mechanism of Promoter Opening in Eukaryotic Gene Expression.

Alekseev S, Nagy Z, Sandoz J, Weiss A, Egly JM, Le May N, Coin F

Mol. Cell. 2017 Feb;65(3):504-514.e4

Influenza virus NS1 protein binds cellular DNA to block transcription of antiviral genes.

Anastasina M, Le May N, Bugai A, Fu Y, Söderholm S, Gaelings L, Ohman T, Tynell J, Kyttänen S, Barboric M, Nyman TA, Matikainen S, Julkunen I, Butcher SJ, Egly JM, Kainov DE

Biochim. Biophys. Acta. 2016 Nov;1859(11):1440-1448

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Dr LE MAY Nicolas

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Rôle du facteur de réparation XPC dans la régulation de l'expression des gènes

Rôles du facteur de réparation XPG dans l'expression des gènes

Publications

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

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

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

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

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

Diagnostic and severity scores for Cockayne syndrome.

Growth charts in Cockayne syndrome type 1 and type 2.

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

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

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

Transcription without XPB Establishes a Unified Helicase-Independent Mechanism of Promoter Opening in Eukaryotic Gene Expression.

Influenza virus NS1 protein binds cellular DNA to block transcription of antiviral genes.

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