安徽医科大学张学军和华大基因研究所的王俊博士联合发表nature文章

作者：巴傲得生物科技有限公司 2012-09-24T08:35 (访问量:7834)

安徽医科大学校长张学军教授和华大基因研究所的王俊博士联合领导的科研团队在Nature
Genetics（IF=35.532）发表文章Exome sequencing identifies MVK mutations in disseminated
superficial actinic
porokeratosis，，文章中 involucrin (BS1189, Bioworld Technology, Inc)

http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2409.html，

Nature Genetics | Letter

Exome sequencing identifies MVK mutations in
disseminated superficial actinic porokeratosis

Journal name:: Nature Genetics
Year published:: (2012)
DOI:: doi:10.1038/ng.2409

Received: 15 March 2012
Accepted: 16 August 2012
Published online: 16 September 2012

Disseminated superficial actinic
porokeratosis (DSAP) is an autosomal dominantly inherited epidermal
keratinization disorder whose etiology remains unclear. We performed exome
sequencing in one unaffected and two affected individuals from a DSAP family.
The mevalonate kinase gene (MVK) emerged as the only candidate gene
located in previously defined linkage regions after filtering against existing
SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into
consideration the functional implications of the mutations. Sanger sequencing in
57 individuals with familial DSAP and 25 individuals with sporadic DSAP
identified MVK mutations in 33% and 16% of these individuals (cases),
respectively. All 14 MVK mutations identified in our study were absent in
676 individuals without DSAP. Our functional studies in cultured primary
keratinocytes suggest that MVK has a role in regulating calcium-induced
keratinocyte differentiation and could protect keratinocytes from apoptosis
induced by type A ultraviolet radiation. Our results should help advance the
understanding of DSAP pathogenesis

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安徽医科大学张学军和华大基因研究所的王俊博士联合发表nature文章

Exome sequencing identifies MVK mutations in
disseminated superficial actinic porokeratosis

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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

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Exome sequencing identifies MVK mutations in
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