Property Summary

NCBI Gene PubMed Count 92
Grant Count 20
R01 Count 11
Funding $10,253,151.49
PubMed Score 268.49
PubTator Score 329.85

Knowledge Summary

Patent

No data available

Gene RIF (87)

PMID Text
26040210 Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis-regulatory machinery of this gene.
25781530 SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation.
25572239 Mutation analysis of the SHOX gene indicated that a novel heterozygous deletion mutation of SHOX was responsible for the isolated Madelung deformity disease
25220427 mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength
25189248 Polymorphic variants detected in exon 1 of SHOX gene associated with idiopathic short stature.
25056248 Data provide new information about the spectrum of phenotypic alterations showed by Leri-Weill dyschondrosteosis patients with different deletions of the SHOX enhancer region.
24296787 Abnormal body proportions were observed in almost all individuals with SHOX-D, 50% of females with TS and 16% of children considered idiopathic short stature.
24248941 Although human SHOX can exert similar functions to mouse Shox2 in regulating early temporomandibular joint development, it apparently has a distinct function in the regulation of those molecules that are involved in tissue homeostasis.
24186869 Findings support the hypothesis that SHOX may play a central role in the regulation of the cell death pathways activated during long bone development.
24051572 Children with SHOX deficiency demonstrated a mesomelic shortening of extremities.
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AA Sequence

MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHL      1 - 70
FKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETH     71 - 140
YPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQ    141 - 210
QVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLR    211 - 280
LKARKHAEALGL                                                              281 - 292
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Text Mined References (94)

PMID Year Title
26040210 2015 Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
25781530 2015 Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency.
25572239 2014 Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.
25220427 2014 Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation.
25189248 2014 Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.
25056248 2014 Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
24296787 2013 The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.
24248941 2014 Replacing Shox2 with human SHOX leads to congenital disc degeneration of the temporomandibular joint in mice.
24186869 2014 SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.
24051572 2013 Short stature before puberty: which children should be screened for SHOX deficiency?
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