Linked Life Data

10571942

Source:http://linkedlifedata.com/resource/pubmed/id/10571942

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2000-1-24
pubmed:abstractText
Nail-patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive kidney disease. The syndrome is inherited in an autosomal dominant manner and has been shown to result from mutations in the LIM-homeodomain encoding LMX1B gene. The LMX1B transcription factor plays a role in defining the development of dorsal-specific structures during limb development. To date, a total of 64 point mutations and small deletions or insertions have been reported, concentrated within either the LIM or homeodomains. No NPS mutations have been observed within the carboxy-terminal third of the coding sequence, suggesting that mutations in this region are not inactivating. These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:copyrightInfo
Copyright 1999 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
459-65
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
pubmed:affiliation
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287-4922, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.