Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome-Reference-Cited by-同舟云学术

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Published:2023-12 Issue:12 Volume:110 Page:2112-2119
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Engal Eden,Oja Kaisa Teele,Maroofian Reza,Geminder Ophir,Le Thuy-Linh,Marzin Pauline,Guimier Anne,Mor Evyatar,Zvi Naama,Elefant Naama,Zaki Maha S.,Gleeson Joseph G.,Muru Kai,Pajusalu Sander,Wojcik Monica H.,Pachat Divya,Elmaksoud Marwa Abd,Chan Jeong Won,Lee Hane,Bauer Peter,Zifarelli Giovanni,Houlden Henry,Daana Muhannad,Elpeleg Orly,Amiel Jeanne,Lyonnet Stanislas,Gordon Christopher T.,Harel Tamar,Õunap Katrin,Salton Maayan,Mor-Shaked Hagar^ORCID

Funder

MSDAVENIR

Agence Nationale de la Recherche

National Heart, Lung, and Blood Institute

AXA Research Fund

National Human Genome Research Institute

Eesti Teadusagentuur

National Institute of Child Health and Human Development

National Eye Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Spliceosomopathies: Diseases and mechanisms;Griffin;Dev. Dynam.,2020

2. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs;Zhao;Am. J. Hum. Genet.,2009

3. Defects of the spliceosomal gene SNRPB affect osteo- and chondro-differentiation;Knill;FEBS J.,2023

4. WW domain-mediated interactions reveal a spliceosome-associated protein that binds a third class of proline-rich motif: the proline glycine and methionine-rich motif;Bedford;Proc. Natl. Acad. Sci. USA,1998

5. Formin binding proteins bear WWP/WW domains that bind proline-rich peptides and functionally resemble SH3 domains;Chan;EMBO J.,1996

Cited by 2 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. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders;Nature Medicine;2024-05-31

2. The spectrum of pre‐mRNA splicing in autism;WIREs RNA;2024-03

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