Linked Life Data

20347055

Source:http://linkedlifedata.com/resource/pubmed/id/20347055

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-5-17
pubmed:abstractText
Hypospadias, when the urethral opening is situated on the ventral side of the penis, is a common genital malformation in boys and is partly caused by genetic factors. Mutations in the Mastermind-like domain containing 1 (MAMLD1 or CXorf6) gene have been reported in hypospadias cases. We have performed direct sequencing of the MAMLD1 gene in 99 sporadic hypospadias cases to further elucidate the role of this gene in hypospadias. Five non-synonymous mutations, one synonymous and one non-coding mutation were found. Of those, p.P286S, p.V432A, p.N589S and p.531ins3Q have previously been reported and are indicated in our study as polymorphisms. One new mutation, p.Q529K, was found in one patient with severe hypospadias and it was predicted to affect the splicing process. In our material we also found a weak association between hypospadias and the p.N589S polymorphism and in a haplotype analysis the rare alleles of p.P286S and p.N589S were more common in cases than in controls.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1878-0849
pubmed:author
pubmed:copyrightInfo
Copyright 2010 Elsevier Masson SAS. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
122-6
pubmed:meshHeading
pubmed:articleTitle
Mutational study of the MAMLD1-gene in hypospadias.
pubmed:affiliation
Department of Urology, The Second Hospital, Shandong University, Jinan 250033, PR China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't