TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions-Reference-Cited by-同舟云学术

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Published:2022-12 Issue:12 Volume:109 Page:2270-2282
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hijazi Hadia,Reis Linda M.,Pehlivan Davut,Bernstein Jonathan A.,Muriello Michael,Syverson Erin,Bonner Devon,Estiar Mehrdad A.,Gan-Or Ziv,Rouleau Guy A.,Lyulcheva Ekaterina,Greenhalgh Lynn,Tessarech Marine,Colin Estelle,Guichet Agnès,Bonneau Dominique,van Jaarsveld R.H.,Lachmeijer A.M.A.,Ruaud Lyse,Levy Jonathan,Tabet Anne-Claude,Ploski Rafal,Rydzanicz Małgorzata,Kępczyński Łukasz,Połatyńska Katarzyna,Li Yidan,Fatih Jawid M.,Marafi Dana,Rosenfeld Jill A.,Coban-Akdemir Zeynep,Bi Weimin,Gibbs Richard A.,Hobson Grace M.,Hunter Jill V.,Carvalho Claudia M.B.,Posey Jennifer E.^ORCID,Semina Elena V.,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine;Lupski;Trends Genet.,2022

2. Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome;Hijazi;Hum. Mutat.,2020

3. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities;Yamamoto;J. Hum. Genet.,2014

4. A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies;Labonne;BMC Neurol.,2016

5. Genomic structure and chromosomal localization of TCEAL1, a human gene encoding the nuclear phosphoprotein p21;Pillutla;Genomics,1999

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of molecular targets and small drug candidates for Huntington's disease via bioinformatics and a network‐based screening approach;Journal of Cellular and Molecular Medicine;2024-08

2. Genes Selectively Expressed in Rat Organs;Current Genomics;2024-08

3. A trimeric USP11/USP7/TCEAL1 complex stabilizes RNAPII during early transcription to sustain oncogenic gene expression;2024-07-30

4. Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait;Human Genome Variation;2024-05-15

5. TCEAL5 cooperates with the NuRD complex to epigenetically silence mesenchymal genes in glioma;2024-04-12