Property Summary

NCBI Gene PubMed Count 32
Grant Count 11
R01 Count 7
Funding $1,240,128.17
PubMed Score 241.61
PubTator Score 53.15

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
24777739 A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation.
24478176 Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
23793141 Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome.
22786669 report of a new point mutation within the ZRS in a family with digit malformations including triphalangeal thumb, pre-axial polydactyly and post-axial polydactyly; heterozygous C>A mutation at position 287 of the ZRS enhancer was detected in all affected subjects and is absent from four unaffected family members
22495965 A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20068592 Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb.
18698406 Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks.
17300748 C to T transition in LMBR1 results in the dysregulation of sonic hedgehog, which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case
12491086 disruption is associated with preaxial polydactyly
More...

AA Sequence

MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQEDEDAIVNRISLFLSTFTLAV      1 - 70
SAGAVLLLPFSIISNEILLSFPQNYYIQWLNGSLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLK     71 - 140
KGIRARILETLVMLLLLALLILGIVWVASALIDNDAASMESLYDLWEFYLPYLYSCISLMGCLLLLLCTP    141 - 210
VGLSRMFTVMGQLLVKPTILEDLDEQIYIITLEEEALQRRLNGLSSSVEYNIMELEQELENVKTLKTKLE    211 - 280
RRKKASAWERNLVYPAVMVLLLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAAL    281 - 350
EIILIFYLMVSSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSALPVMSRTLGITRFDLLGDFG    351 - 420
RFNWLGNFYIVLSYNLLFAIVTTLCLVRKFTSAVREELFKALGLHKLHLPNTSRDSETAKPSVNGHQKAL    421 - 490
//

Text Mined References (38)

PMID Year Title
24965254 2014 ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
24777739 2014 A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
24478176 2014 A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
24456159 2014 Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
23793141 2013 Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22786669 2012 A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
22495965 2012 A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.
20446115 2011 LMBRD1: the gene for the cblF defect of vitamin B?? metabolism.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
More...