Literature DB >> 31793173

A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.

Jacquelyn N Crane1, Vivian Y Chang1,2,3, William H Yong4, Noriko Salamon5, Jessica Kianmahd6, Naghmeh Dorrani7,6, Julian A Martinez-Agosto2,3,7,8,6, Tom B Davidson9.   

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Year:  2019        PMID： 31793173      PMCID： PMC7307637          DOI： 10.1002/pbc.28103

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  17 in total

1.  CARE guidelines for case reports: explanation and elaboration document.

Authors:  David S Riley; Melissa S Barber; Gunver S Kienle; Jeffrey K Aronson; Tido von Schoen-Angerer; Peter Tugwell; Helmut Kiene; Mark Helfand; Douglas G Altman; Harold Sox; Paul G Werthmann; David Moher; Richard A Rison; Larissa Shamseer; Christian A Koch; Gordon H Sun; Patrick Hanaway; Nancy L Sudak; Marietta Kaszkin-Bettag; James E Carpenter; Joel J Gagnier
Journal:  J Clin Epidemiol       Date:  2017-05-18       Impact factor: 6.437

Review 2.  Orchestrating ontogenesis: variations on a theme by sonic hedgehog.

Authors:  Philip W Ingham; Marysia Placzek
Journal:  Nat Rev Genet       Date:  2006-11       Impact factor: 53.242

Review 3.  GNAS Spectrum of Disorders.

Authors:  Serap Turan; Murat Bastepe
Journal:  Curr Osteoporos Rep       Date:  2015-06       Impact factor: 5.096

4.  Targeting the Hedgehog pathway in cancer.

Authors:  Sachin Gupta; Naoko Takebe; Patricia Lorusso
Journal:  Ther Adv Med Oncol       Date:  2010-07       Impact factor: 8.168

5.  Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors:  Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

Review 6.  Targeting brain cancer: advances in the molecular pathology of malignant glioma and medulloblastoma.

Authors:  Jason T Huse; Eric C Holland
Journal:  Nat Rev Cancer       Date:  2010-05       Impact factor: 60.716

7.  Diverse somatic mutation patterns and pathway alterations in human cancers.

Authors:  Zhengyan Kan; Bijay S Jaiswal; Jeremy Stinson; Vasantharajan Janakiraman; Deepali Bhatt; Howard M Stern; Peng Yue; Peter M Haverty; Richard Bourgon; Jianbiao Zheng; Martin Moorhead; Subhra Chaudhuri; Lynn P Tomsho; Brock A Peters; Kanan Pujara; Shaun Cordes; David P Davis; Victoria E H Carlton; Wenlin Yuan; Li Li; Weiru Wang; Charles Eigenbrot; Joshua S Kaminker; David A Eberhard; Paul Waring; Stephan C Schuster; Zora Modrusan; Zemin Zhang; David Stokoe; Frederic J de Sauvage; Malek Faham; Somasekar Seshagiri
Journal:  Nature       Date:  2010-07-28       Impact factor: 49.962

8.  Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.

Authors:  Ji Young Huh; Min-Jung Kwon; Kyu Young Seo; Moon Kyu Kim; Kyu Young Chae; Se Hoon Kim; Chang-Seok Ki; Moon Soo Yoon; Dong Hyun Kim
Journal:  J Dermatol       Date:  2014-02-11       Impact factor: 4.005

Review 9.  Role of MYC in Medulloblastoma.

Authors:  Martine F Roussel; Giles W Robinson
Journal:  Cold Spring Harb Perspect Med       Date:  2013-11-01       Impact factor: 6.915

10.  The G protein α subunit Gαs is a tumor suppressor in Sonic hedgehog-driven medulloblastoma.

Authors:  Xuelian He; Liguo Zhang; Ying Chen; Marc Remke; David Shih; Fanghui Lu; Haibo Wang; Yaqi Deng; Yang Yu; Yong Xia; Xiaochong Wu; Vijay Ramaswamy; Tom Hu; Fan Wang; Wenhao Zhou; Dennis K Burns; Se Hoon Kim; Marcel Kool; Stefan M Pfister; Lee S Weinstein; Scott L Pomeroy; Richard J Gilbertson; Joshua B Rubin; Yiping Hou; Robert Wechsler-Reya; Michael D Taylor; Q Richard Lu
Journal:  Nat Med       Date:  2014-08-24       Impact factor: 53.440
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