Literature DB >> 24939608

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Monika Gos1, Somayyeh Fahiminiya, Jarosław Poznański, Jakub Klapecki, Ewa Obersztyn, Małgorzata Piotrowicz, Jolanta Wierzba, Renata Posmyk, Jerzy Bal, Jacek Majewski.   

Abstract

Entities:  

Keywords:  Noonan syndrome; RAS/MAPK pathway; RASopathy; RIT1; whole exome sequencing

Mesh：

Substances：

Year:  2014        PMID： 24939608     DOI： 10.1002/ajmg.a.36646

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  20 in total

1.  Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Authors:  Masako Yaoita; Tetsuya Niihori; Seiji Mizuno; Nobuhiko Okamoto; Shion Hayashi; Atsushi Watanabe; Masato Yokozawa; Hiroshi Suzumura; Akihiko Nakahara; Yusuke Nakano; Tatsunori Hokosaki; Ayumi Ohmori; Hirofumi Sawada; Ohsuke Migita; Aya Mima; Pablo Lapunzina; Fernando Santos-Simarro; Sixto García-Miñaúr; Tsutomu Ogata; Hiroshi Kawame; Kenji Kurosawa; Hirofumi Ohashi; Shin-Ichi Inoue; Yoichi Matsubara; Shigeo Kure; Yoko Aoki
Journal:  Hum Genet       Date:  2015-12-29       Impact factor: 4.132

2.  Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Authors:  Hélène Cavé; Aurélie Caye; Nehla Ghedira; Yline Capri; Nathalie Pouvreau; Natacha Fillot; Aurélien Trimouille; Cédric Vignal; Odile Fenneteau; Yves Alembik; Jean-Luc Alessandri; Patricia Blanchet; Odile Boute; Patrice Bouvagnet; Albert David; Anne Dieux Coeslier; Bérénice Doray; Olivier Dulac; Valérie Drouin-Garraud; Marion Gérard; Delphine Héron; Bertrand Isidor; Didier Lacombe; Stanislas Lyonnet; Laurence Perrin; Marlène Rio; Joëlle Roume; Sylvie Sauvion; Annick Toutain; Catherine Vincent-Delorme; Marjorie Willems; Clarisse Baumann; Alain Verloes
Journal:  Eur J Hum Genet       Date:  2016-01-13       Impact factor: 4.246

Review 3.  A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Authors:  Michaela Nemcikova; Sarka Vejvalkova; Filip Fencl; Martina Sukova; Anna Krepelova
Journal:  Eur J Pediatr       Date:  2015-10-31       Impact factor: 3.183

4.  Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

Authors:  Zhenhao Fang; Christopher B Marshall; Jiani C Yin; Mohammad T Mazhab-Jafari; Geneviève M C Gasmi-Seabrook; Matthew J Smith; Tadateru Nishikawa; Yang Xu; Benjamin G Neel; Mitsuhiko Ikura
Journal:  J Biol Chem       Date:  2016-05-18       Impact factor: 5.157

5.  Prolapse of all cardiac valves in Noonan syndrome.

Authors:  Adikesava Naidu Otikunta; Y V Subbareddy; Praneeth Polamuri; Ashok Thakkar
Journal:  BMJ Case Rep       Date:  2015-02-25

6.  Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Authors:  M Koenighofer; C Y Hung; J L McCauley; J Dallman; E J Back; I Mihalek; K W Gripp; K Sol-Church; P Rusconi; Z Zhang; G-X Shi; D A Andres; O A Bodamer
Journal:  Clin Genet       Date:  2015-06-04       Impact factor: 4.438

7.  ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Authors:  Dong Li; Michael E March; Alvaro Gutierrez-Uzquiza; Charlly Kao; Christoph Seiler; Erin Pinto; Leticia S Matsuoka; Mark R Battig; Elizabeth J Bhoj; Tara L Wenger; Lifeng Tian; Nora Robinson; Tiancheng Wang; Yichuan Liu; Brant M Weinstein; Matthew Swift; Hyun Min Jung; Courtney N Kaminski; Rosetta Chiavacci; Jonathan A Perkins; Michael A Levine; Patrick M A Sleiman; Patricia J Hicks; Janet T Strausbaugh; Jean B Belasco; Yoav Dori; Hakon Hakonarson
Journal:  Nat Med       Date:  2019-07-01       Impact factor: 53.440

8.  Expansion of the RASopathies.

Authors:  William E Tidyman; Katherine A Rauen
Journal:  Curr Genet Med Rep       Date:  2016-07-01

9.  The molecular functions of RIT1 and its contribution to human disease.

Authors:  Richard Van; Antonio Cuevas-Navarro; Pau Castel; Frank McCormick
Journal:  Biochem J       Date:  2020-08-14       Impact factor: 3.857

Review 10.  Recent advances in RASopathies.

Authors:  Yoko Aoki; Tetsuya Niihori; Shin-ichi Inoue; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2015-10-08       Impact factor: 3.172
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