Germline-Activating RRAS2 Mutations Cause Noonan Syndrome-Reference-Cited by-同舟云学术

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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

Published:2019-06 Issue:6 Volume:104 Page:1233-1240
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Niihori Tetsuya,Nagai Koki,Fujita Atsushi,Ohashi Hirofumi,Okamoto Nobuhiko,Okada Satoshi,Harada Atsuko,Kihara Hirotaka,Arbogast Thomas,Funayama Ryo,Shirota Matsuyuki,Nakayama Keiko,Abe Taiki,Inoue Shin-ichi,Tsai I-Chun,Matsumoto Naomichi,Davis Erica E.,Katsanis Nicholas,Aoki Yoko

Funder

US National Institutes of Health

AMED

Japan Society for the Promotion of Science (JSPS) KAKENHI

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Recent advances in RASopathies;Aoki;J. Hum. Genet.,2016

2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants;Johnston;Genet. Med.,2018

3. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation;Tidyman;Curr. Opin. Genet. Dev.,2009

4. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders;Aoki;Hum. Mutat.,2008

5. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat. Genet.,2005

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3. Non-Mammalian Models for Understanding Neurological Defects in RASopathies;Biomedicines;2024-04-10

4. Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype;Frontiers in Genetics;2024-03-27

5. Mice Overexpressing Wild-Type RRAS2 Are a Novel Model for Preclinical Testing of Anti-Chronic Lymphocytic Leukemia Therapies;Cancers;2023-12-12

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