Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling-Reference-Cited by-同舟云学术

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Published:2018-11-27 Issue:6 Volume:28 Page:1007-1022
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Motta Marialetizia¹,Fidan Miray²,Bellacchio Emanuele¹,Pantaleoni Francesca¹,Schneider-Heieck Konstantin²,Coppola Simona³,Borck Guntram⁴,Salviati Leonardo⁵,Zenker Martin⁶,Cirstea Ion C²,Tartaglia Marco¹

Affiliation:

1. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy

2. Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany

3. National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

4. Institute of Human Genetics, Ulm University, Ulm, Germany

5. Department of Pediatrics, Università degli Studi di Padova, Padua, Italy

6. Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany

Funder

Associazione Italiana per la Ricerca sul Cancro

Ministero della Salute

Federal Ministry of Education and Research

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/6/1007/28011141/ddy412.pdf

Reference58 articles.

1. Noonan syndrome;Burgt;Orphanet J. Rare Dis.,2007

2. Noonan syndrome and clinically related disorders;Tartaglia;Best Pract. Res. Clin. Endocrinol. Metab.,2011

3. Noonan syndrome;Roberts;Lancet,2013

4. A competitive PCR-based method to measure human fibroblast growth factor receptor 1–4 (FGFR1-4) gene expression;Tartaglia;DNA Cell Biol.,2001

5. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity;Tartaglia;Am. J. Hum. Genet.,2002

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