Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome-Reference-Cited by-同舟云学术

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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Published:2001 Issue:2 Volume:17 Page:103-116
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Delaunoy Jean-Pierre,Abidi Fatima,Zeniou Maria,Jacquot Sylvie,Merienne Karine,Pannetier Solange,Schmitt Mich�le,Schwartz Charles E.,Hanauer Andr�

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

2. Sequence and expression of chicken and mouse rsk: homologs of Xenopus laevis ribosomal S6 kinase.

3. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation

4. Construction of a High-Resolution Linkage Map for Xp22.1-p22.2 and Refinement of the Genetic Localization of the Coffin-Lowry Syndrome Gene

5. Cloning of a Human Insulin-Stimulated Protein Kinase (ISPK-1) Gene and Analysis of Coding Regions and mRNA Levels of the ISPK-1 and the Protein Phosphatase-1 Genes in Muscle From NIDDM Patients

Cited by 70 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. RSK2 inactivation cooperates with AXIN1 inactivation or β-catenin activation to promote hepatocarcinogenesis;Journal of Hepatology;2023-09

2. Early epigenetic markers for precision medicine;Epigenetics in Health and Disease - Part B;2023

3. Histones and their chaperones: Adaptive remodelers of an ever-changing chromatinic landscape;Frontiers in Genetics;2022-11-16

4. Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them;Psychiatric Genetics;2022-09-14

5. Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome;Life Science Alliance;2022-06-28

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