Literature DB >> 19801981

T (brachyury) gene duplication confers major susceptibility to familial chordoma.

Xiaohong R Yang1, David Ng, David A Alcorta, Norbert J Liebsch, Eamonn Sheridan, Sufeng Li, Alisa M Goldstein, Dilys M Parry, Michael J Kelley.   

Abstract

Using high-resolution array-CGH, we identified unique duplications of a region on 6q27 in four multiplex families with at least three cases of chordoma, a cancer of presumed notochordal origin. The duplicated region contains only the T (brachyury) gene, which is important in notochord development and is expressed in most sporadic chordomas. Our findings highlight the value of screening for complex genomic rearrangements in searches for cancer-susceptibility genes.

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Year:  2009        PMID： 19801981      PMCID： PMC2901855          DOI： 10.1038/ng.454

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  12 in total

Review 1.  Molecular mechanisms for genomic disorders.

Authors:  Ken Inoue; James R Lupski
Journal:  Annu Rev Genomics Hum Genet       Date:  2002-04-15       Impact factor: 8.929

2.  Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).

Authors:  Xiaohong ' Rose ' Yang; Michael Beerman; Andrew W Bergen; Dilys M Parry; Eamonn Sheridan; Norbert J Liebsch; Michael J Kelley; Stephen Chanock; Alisa M Goldstein
Journal:  Int J Cancer       Date:  2005-09-01       Impact factor: 7.396

Review 3.  Genomic rearrangements and sporadic disease.

Authors:  James R Lupski
Journal:  Nat Genet       Date:  2007-07       Impact factor: 38.330

4.  A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

Authors:  Bhaskar Chanda; Mika Asai-Coakwell; Ming Ye; Andrew J Mungall; Margaret Barrow; William B Dobyns; Hourinaz Behesti; Jane C Sowden; Nigel P Carter; Michael A Walter; Ordan J Lehmann
Journal:  Hum Mol Genet       Date:  2008-08-11       Impact factor: 6.150

Review 5.  Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.

Authors:  Jennifer A Lee; James R Lupski
Journal:  Neuron       Date:  2006-10-05       Impact factor: 17.173

6.  Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.

Authors:  M J Kelley; J F Korczak; E Sheridan; X Yang; A M Goldstein; D M Parry
Journal:  Am J Hum Genet       Date:  2001-07-10       Impact factor: 11.025

7.  Lamin B1 duplications cause autosomal dominant leukodystrophy.

Authors:  Quasar S Padiath; Kazumasa Saigoh; Raphael Schiffmann; Hideaki Asahara; Takeshi Yamada; Anulf Koeppen; Kirk Hogan; Louis J Ptácek; Ying-Hui Fu
Journal:  Nat Genet       Date:  2006-09-03       Impact factor: 38.330

8.  Immunohistochemical analysis of the Brachyury protein in wild-type and mutant mouse embryos.

Authors:  A Kispert; B G Herrmann
Journal:  Dev Biol       Date:  1994-01       Impact factor: 3.582

9.  Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas.

Authors:  S Vujovic; S Henderson; N Presneau; E Odell; T S Jacques; R Tirabosco; C Boshoff; A M Flanagan
Journal:  J Pathol       Date:  2006-06       Impact factor: 7.996

10.  The T protein encoded by Brachyury is a tissue-specific transcription factor.

Authors:  A Kispert; B Koschorz; B G Herrmann
Journal:  EMBO J       Date:  1995-10-02       Impact factor: 11.598
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  102 in total

1.  Kip3-ing kinetochores clustered.

Authors:  Ryoma Ohi
Journal:  Cell Cycle       Date:  2010-07-01       Impact factor: 4.534

Review 2.  Notochord to Nucleus Pulposus Transition.

Authors:  Lisa Lawson; Brian D Harfe
Journal:  Curr Osteoporos Rep       Date:  2015-10       Impact factor: 5.096

3.  Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program.

Authors:  Dilys M Parry; Mary L McMaster; Norbert J Liebsch; Nicholas J Patronas; Martha M Quezado; Deborah Zametkin; Xiaohong R Yang; Alisa M Goldstein
Journal:  J Neurosurg       Date:  2020-06-19       Impact factor: 5.115

4.  Ultrasensitive Detection of Attomolar Protein Concentrations by Dropcast Single Molecule Assays.

Authors:  Connie Wu; Padric M Garden; David R Walt
Journal:  J Am Chem Soc       Date:  2020-06-30       Impact factor: 15.419

Review 5.  The notochord: structure and functions.

Authors:  Diana Corallo; Valeria Trapani; Paolo Bonaldo
Journal:  Cell Mol Life Sci       Date:  2015-04-02       Impact factor: 9.261

6.  Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

Authors:  Michael J Kelley; Jianxin Shi; Bari Ballew; Paula L Hyland; Wen-Qing Li; Melissa Rotunno; David A Alcorta; Norbert J Liebsch; Jason Mitchell; Sara Bass; David Roberson; Joseph Boland; Michael Cullen; Ji He; Laurie Burdette; Meredith Yeager; Stephen J Chanock; Dilys M Parry; Alisa M Goldstein; Xiaohong R Yang
Journal:  Hum Genet       Date:  2014-07-04       Impact factor: 4.132

7.  A common single-nucleotide variant in T is strongly associated with chordoma.

Authors:  Nischalan Pillay; Vincent Plagnol; Patrick S Tarpey; Samira B Lobo; Nadège Presneau; Karoly Szuhai; Dina Halai; Fitim Berisha; Stephen R Cannon; Simon Mead; Dalia Kasperaviciute; Jutta Palmen; Philippa J Talmud; Lars-Gunnar Kindblom; M Fernanda Amary; Roberto Tirabosco; Adrienne M Flanagan
Journal:  Nat Genet       Date:  2012-10-14       Impact factor: 38.330

8.  Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival.

Authors:  Chetan Bettegowda; Stephen Yip; Sheng-Fu Larry Lo; Charles G Fisher; Stefano Boriani; Laurence D Rhines; Joanna Y Wang; Aron Lazary; Marco Gambarotti; Wei-Lien Wang; Alessandro Luzzati; Mark B Dekutoski; Mark H Bilsky; Dean Chou; Michael G Fehlings; Edward F McCarthy; Nasir A Quraishi; Jeremy J Reynolds; Daniel M Sciubba; Richard P Williams; Jean-Paul Wolinsky; Patricia L Zadnik; Ming Zhang; Niccole M Germscheid; Vasiliki Kalampoki; Peter Pal Varga; Ziya L Gokaslan
Journal:  Neuro Oncol       Date:  2017-03-01       Impact factor: 12.300

9.  UM-Chor1: establishment and characterization of the first validated clival chordoma cell line.

Authors:  John Henry Owen; Christine M Komarck; Anthony C Wang; Waleed M Abuzeid; Richard F Keep; Erin L McKean; Stephen Sullivan; Xing Fan; Mark E P Prince
Journal:  J Neurosurg       Date:  2017-04-21       Impact factor: 5.115

10.  An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma.

Authors:  Andrew C Nelson; Nischalan Pillay; Stephen Henderson; Nadège Presneau; Roberto Tirabosco; Dina Halai; Fitim Berisha; Paul Flicek; Derek L Stemple; Claudio D Stern; Fiona C Wardle; Adrienne M Flanagan
Journal:  J Pathol       Date:  2012-09-26       Impact factor: 7.996
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