Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay-Reference-Cited by-同舟云学术

Identification of Novel Mutations in Patients with Coffin–Lowry Syndrome by a Denaturing HPLC-Based Assay

Published:2005-12-01 Issue:12 Volume:51 Page:2356-2358
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Falco Michele¹,Romano Corrado²,Alberti Antonino²,Greco Donatella²,Scuderi Carmela³,Avola Emanuela²,Failla Pinella²,Belli Serena⁴,Tolmie John L⁵,Amata Silvestra¹,Fichera Marco¹

Affiliation:

1. Laboratorio di Diagnosi Genetica,

2. Unità Operativa Complessa di Pediatria e Genetica Medica, and

3. Unità Operativa di Neurologia per il Ritardo Mentale, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Oasi Maria SS, Troina, Italy

4. Consultorio Genetico APSS, Trento, Italy

5. Department of Medical Genetics, Yorkhill Hospitals, Glasgow, Scotland, United Kingdom

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/51/12/2356/32684495/clinchem2356.pdf

Reference14 articles.

1. Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet2002;39:705-713.

2. Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, et al. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature1996;384:567-570.

3. Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, et al. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. Am J Hum Genet1998;63:1631-1640.

4. Zeniou M, Ding T, Trivier E, Hanauer A. Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Hum Mol Genet2002;11:2929-2940.

5. Blenis J. Signal transduction via the MAP kinases: proceed at your own RSK. Proc Natl Acad Sci U S A1993;90:5889-5892.

Cited by 5 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. Discovery of novel p90 ribosomal S6 kinase 2 inhibitors for potential cancer treatment through ligand-based and structure-based virtual screening methods;Chemometrics and Intelligent Laboratory Systems;2021-10

2. Identification of Inhibitors against p90 Ribosomal S6 Kinase 2 (RSK2) through Structure-Based Virtual Screening with the Inhibitor-Constrained Refined Homology Model;Journal of Chemical Information and Modeling;2011-10-21

3. Coffin–Lowry syndrome: A role for RSK2 in mammalian neurogenesis;Developmental Biology;2010-11

4. RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome;Clinica Chimica Acta;2007-09

5. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome;Clinical Genetics;2006-07-07