Literature DB >> 11546831

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.

M H Sham, V C Lui, B L Chen, M Fu, P K Tam.   

Abstract

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Year:  2001        PMID： 11546831      PMCID： PMC1734934          DOI： 10.1136/jmg.38.9.e30

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

Review 1.  Sox proteins in melanocyte development and melanoma.

Authors:  Melissa L Harris; Laura L Baxter; Stacie K Loftus; William J Pavan
Journal:  Pigment Cell Melanoma Res       Date:  2010-04-22       Impact factor: 4.693

Review 2.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

3.  Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Authors:  Avencia Sánchez-Mejías; Yuli Watanabe; Raquel M Fernández; Manuel López-Alonso; Guillermo Antiñolo; Nadege Bondurand; Salud Borrego
Journal:  J Mol Med (Berl)       Date:  2010-02-04       Impact factor: 4.599

4.  Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Authors:  Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Journal:  Am J Hum Genet       Date:  2007-10-22       Impact factor: 11.025

Review 5.  Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.

Authors:  Sida Huang; Jian Song; Chufeng He; Xinzhang Cai; Kai Yuan; Lingyun Mei; Yong Feng
Journal:  Gene Ther       Date:  2021-02-25       Impact factor: 4.184

6.  HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

Authors:  Sandra Donkervoort; Diana Bharucha-Goebel; Pomi Yun; Ying Hu; Payam Mohassel; Ahmet Hoke; Wadih M Zein; Daniel Ezzo; Andrea M Atherton; Ann C Modrcin; Majed Dasouki; A Reghan Foley; Carsten G Bönnemann
Journal:  Neurol Genet       Date:  2017-05-15

7.  Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.

Authors:  Li Li; Jing Ma; Xiao-Li He; Yuan-Tao Zhou; Yu Zhang; Quan-Dong Chen; Lin Zhang; Biao Ruan; Tie-Song Zhang
Journal:  Biosci Rep       Date:  2021-06-25       Impact factor: 3.840

8.  Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

Authors:  Long Cui; Emily Hoi-Man Wong; Guo Cheng; Manoel Firmato de Almeida; Man-Ting So; Pak-Chung Sham; Stacey S Cherny; Paul Kwong-Hang Tam; Maria-Mercè Garcia-Barceló
Journal:  PLoS One       Date:  2013-06-26       Impact factor: 3.240

9.  A Sox10 expression screen identifies an amino acid essential for Erbb3 function.

Authors:  Kristina Buac; Dawn E Watkins-Chow; Stacie K Loftus; Denise M Larson; Arturo Incao; Gretchen Gibney; William J Pavan
Journal:  PLoS Genet       Date:  2008-09-05       Impact factor: 5.917

10.  An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.

Authors:  James R Dutton; Anthony Antonellis; Thomas J Carney; Frederico S L M Rodrigues; William J Pavan; Andrew Ward; Robert N Kelsh
Journal:  BMC Dev Biol       Date:  2008-10-26       Impact factor: 1.978
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