Literature DB >> 22931912

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Alireza Haghighi, Claire A Scott, Daniel S Poon, Reza Yaghoobi, Nasrollah Saleh-Gohari, Vincent Plagnol, David P Kelsell.   

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Year:  2012        PMID： 22931912     DOI： 10.1038/jid.2012.289

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  17 in total

Review 1.  Golgi post-translational modifications and associated diseases.

Authors:  Sven Potelle; André Klein; François Foulquier
Journal:  J Inherit Metab Dis       Date:  2015-05-13       Impact factor: 4.982

2.  Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

Authors:  Ori Eytan; Dana Fuchs-Telem; Baruch Mevorach; Margarita Indelman; Reuven Bergman; Ofer Sarig; Ilan Goldberg; Noam Adir; Eli Sprecher
Journal:  J Invest Dermatol       Date:  2014-01-24       Impact factor: 8.551

3.  TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.

Authors:  Manoj Yadav; Chandan Goswami
Journal:  Channels (Austin)       Date:  2016-10-18       Impact factor: 2.581

Review 4.  [Palmoplantar dermatoses: when should genes be considered?].

Authors:  C Seebode; S Schiller; S Emmert; K Giehl
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

Review 5.  Olmsted syndrome: clinical, molecular and therapeutic aspects.

Authors:  Sabine Duchatelet; Alain Hovnanian
Journal:  Orphanet J Rare Dis       Date:  2015-03-17       Impact factor: 4.123

6.  A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Authors:  Cheng Ni; Ming Yan; Jia Zhang; Ruhong Cheng; Jianying Liang; Dan Deng; Zhen Wang; Ming Li; Zhirong Yao
Journal:  Sci Rep       Date:  2016-02-23       Impact factor: 4.379

7.  Olmsted syndrome: exploration of the immunological phenotype.

Authors:  Dina Danso-Abeam; Jianguo Zhang; James Dooley; Kim A Staats; Lien Van Eyck; Thomas Van Brussel; Shari Zaman; Esther Hauben; Marc Van de Velde; Marie-Anne Morren; Marleen Renard; Christel Van Geet; Heidi Schaballie; Diether Lambrechts; Jinsheng Tao; Dean Franckaert; Stephanie Humblet-Baron; Isabelle Meyts; Adrian Liston
Journal:  Orphanet J Rare Dis       Date:  2013-05-21       Impact factor: 4.123

8.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096

9.  MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Authors:  Uschi Lindert; Wayne A Cabral; Surasawadee Ausavarat; Siraprapa Tongkobpetch; Katja Ludin; Aileen M Barnes; Patra Yeetong; Maryann Weis; Birgit Krabichler; Chalurmpon Srichomthong; Elena N Makareeva; Andreas R Janecke; Sergey Leikin; Benno Röthlisberger; Marianne Rohrbach; Ingo Kennerknecht; David R Eyre; Kanya Suphapeetiporn; Cecilia Giunta; Joan C Marini; Vorasuk Shotelersuk
Journal:  Nat Commun       Date:  2016-07-06       Impact factor: 14.919

10.  An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture.

Authors:  Leonardo Murgiano; Dominik P Waluk; Rachel Towers; Natalie Wiedemar; Joëlle Dietrich; Vidhya Jagannathan; Michaela Drögemüller; Pierre Balmer; Tom Druet; Arnaud Galichet; M Cecilia Penedo; Eliane J Müller; Petra Roosje; Monika M Welle; Tosso Leeb
Journal:  G3 (Bethesda)       Date:  2016-09-08       Impact factor: 3.154
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