Literature DB >> 19639023

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Ingo Kurth, Eva Klopocki, Sigmar Stricker, Jolieke van Oosterwijk, Sebastian Vanek, Jens Altmann, Heliosa G Santos, Jeske J T van Harssel, Thomy de Ravel, Andrew O M Wilkie, Andreas Gal, Stefan Mundlos.   

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Year:  2009        PMID： 19639023     DOI： 10.1038/ng0809-862

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


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  5 in total

1.  Sox9 inhibits Wnt signaling by promoting beta-catenin phosphorylation in the nucleus.

Authors:  Lilia Topol; Wen Chen; Hai Song; Timothy F Day; Yingzi Yang
Journal:  J Biol Chem       Date:  2008-12-01       Impact factor: 5.157

2.  The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6.

Authors:  Haruhiko Akiyama; Marie-Christine Chaboissier; James F Martin; Andreas Schedl; Benoit de Crombrugghe
Journal:  Genes Dev       Date:  2002-11-01       Impact factor: 11.361

3.  The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.

Authors:  Diana C Blaydon; Yoshiyuki Ishii; Edel A O'Toole; Harriet C Unsworth; Muy-Teck Teh; Franz Rüschendorf; Claire Sinclair; Väinö K Hopsu-Havu; Nicholas Tidman; Celia Moss; Rosemarie Watson; David de Berker; Muhammad Wajid; Angela M Christiano; David P Kelsell
Journal:  Nat Genet       Date:  2006-10-15       Impact factor: 38.330

4.  Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Authors:  Sabina Benko; Judy A Fantes; Jeanne Amiel; Dirk-Jan Kleinjan; Sophie Thomas; Jacqueline Ramsay; Negar Jamshidi; Abdelkader Essafi; Simon Heaney; Christopher T Gordon; David McBride; Christelle Golzio; Malcolm Fisher; Paul Perry; Véronique Abadie; Carmen Ayuso; Muriel Holder-Espinasse; Nicky Kilpatrick; Melissa M Lees; Arnaud Picard; I Karen Temple; Paul Thomas; Marie-Paule Vazquez; Michel Vekemans; Hugues Roest Crollius; Nicholas D Hastie; Arnold Munnich; Heather C Etchevers; Anna Pelet; Peter G Farlie; David R Fitzpatrick; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2009-02-22       Impact factor: 38.330

5.  Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

Authors:  T Wagner; J Wirth; J Meyer; B Zabel; M Held; J Zimmer; J Pasantes; F D Bricarelli; J Keutel; E Hustert; U Wolf; N Tommerup; W Schempp; G Scherer
Journal:  Cell       Date:  1994-12-16       Impact factor: 41.582
  5 in total
  47 in total

Review 1.  The R-spondin protein family.

Authors:  Wim B M de Lau; Berend Snel; Hans C Clevers
Journal:  Genome Biol       Date:  2012       Impact factor: 13.583

Review 2.  Detecting structural variations in the human genome using next generation sequencing.

Authors:  Ruibin Xi; Tae-Min Kim; Peter J Park
Journal:  Brief Funct Genomics       Date:  2011-01-06       Impact factor: 4.241

3.  Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Authors:  Maria C Bonaglia; Susan Marelli; Francesca Novara; Simona Commodaro; Renato Borgatti; Grazia Minardo; Luigi Memo; Elisabeth Mangold; Silvana Beri; Claudio Zucca; Daniele Brambilla; Massimo Molteni; Roberto Giorda; Ruthild G Weber; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

4.  2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Authors:  Xudong Liu; Patrick Malenfant; Chelsea Reesor; Alana Lee; Melissa L Hudson; Chansonette Harvard; Ying Qiao; Antonio M Persico; Ira L Cohen; Albert E Chudley; Cynthia Forster-Gibson; Evica Rajcan-Separovic; M E Suzanne Lewis; Jeanette J A Holden
Journal:  Eur J Hum Genet       Date:  2011-07-13       Impact factor: 4.246

5.  Enhancer mutations and phenotype modularity.

Authors:  Christopher T Gordon; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2014-01       Impact factor: 38.330

6.  Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Authors:  Marta Smyk; Przemyslaw Szafranski; Michał Startek; Anna Gambin; Paweł Stankiewicz
Journal:  Chromosome Res       Date:  2013-11-20       Impact factor: 5.239

7.  Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.

Authors:  Rubin Wang; Jenny Carter; Nicholas Lench
Journal:  Genet Test Mol Biomarkers       Date:  2013-09-11

8.  Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.

Authors:  Andreas Schlattl; Simon Anders; Sebastian M Waszak; Wolfgang Huber; Jan O Korbel
Journal:  Genome Res       Date:  2011-08-23       Impact factor: 9.043

9.  A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Authors:  Philipp G Maass; Jutta Wirth; Atakan Aydin; Andreas Rump; Sigmar Stricker; Sigrid Tinschert; Miguel Otero; Kaneyuki Tsuchimochi; Mary B Goldring; Friedrich C Luft; Sylvia Bähring
Journal:  Hum Mol Genet       Date:  2009-12-16       Impact factor: 6.150

Review 10.  Pituitary gigantism: update on molecular biology and management.

Authors:  Maya B Lodish; Giampaolo Trivellin; Constantine A Stratakis
Journal:  Curr Opin Endocrinol Diabetes Obes       Date:  2016-02       Impact factor: 3.243
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