PMID- 10571942
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20111117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999
TI  - Restricted distribution of loss-of-function mutations within the LMX1B genes of
      nail-patella syndrome patients.
PG  - 459-65
AB  - 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.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Clough, M V
AU  - Clough MV
AD  - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University,
      Baltimore, Maryland 21287-4922, USA.
FAU - Hamlington, J D
AU  - Hamlington JD
FAU - McIntosh, I
AU  - McIntosh I
LA  - eng
GR  - AR44702/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Homeodomain Proteins)
RN  - 0 (LIM homeobox transcription factor 1 beta)
RN  - 0 (LIM-Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Female
MH  - Genes, Dominant
MH  - Homeodomain Proteins/chemistry/*genetics
MH  - Humans
MH  - LIM-Homeodomain Proteins
MH  - Male
MH  - *Mutation
MH  - Nail-Patella Syndrome/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Point Mutation
MH  - Polymorphism, Genetic
MH  - Sequence Deletion
MH  - Transcription Factors/chemistry/genetics
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9 [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(6):459-65. doi:
      10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9.