A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation-Reference-Cited by-同舟云学术

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation

Published:2022-07-13 Issue:7 Volume:37 Page:2431-2440
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

dos Santos Suely Rodrigues,Piergiorge Rafael Mina,Rocha Jady,Abdala Bianca Barbosa,Gonçalves Andressa Pereira,Pimentel Márcia Mattos Gonçalves,Santos-Rebouças Cíntia Barros^ORCID

Funder

Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s11011-022-01024-2.pdf

Reference44 articles.

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4. Chapman AG, Cotton AM, Kelsey AD, Brown CJ (2014) Differentially methylated CpG island within human XIST mediates alternative P2 transcription and YY1 binding. BMC Genet 15:89. https://doi.org/10.1186/s12863-014-0089-4

5. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D (2022) DNA methylation episignature in Gabriele-de Vries syndrome. Genet Med S1098–3600(21):05422–05428. https://doi.org/10.1016/j.gim.2021.12.003

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