Property Summary

NCBI Gene PubMed Count 92
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.
24008148 SHOX haploinsufficiency is not associated with Y-chromosome microdeletions.
23883335 report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Leri-Weill dyschondrosteosis
23666967 Data suggest that haploinsufficiency (loss of 1 copy) of SHOX is responsible for developmental bone disease (as identified by radial bone phenotype) and growth disorder associated with Turner syndrome (in prepubertal girls in Czech Republic).
23575226 both hSHOX and mShox2 limb enhancers are coupled to distinct neural enhancers. This is the first report demonstrating the activity of cis-regulatory elements from the hSHOX and mShox2 genomic regions in mammalian embryos.
23570464 rhGH therapy improves height outcome of SHOXD patients.
23426818 Mutant SHOX minigene generated only the smaller transcript
23426705 Patients with isolated SHOX deficiency are characterized by decreased cortical volumetric bone mineral density and cortical thickness and enlarged diaphysis; similar changes have been described in girls with Turner syndrome, these findings suggest that haploinsufficiency of SHOX could cause characteristic skeletal anomalies at the radius.
23208451 impaired GH secretion is not uncommon in SHOX deficiency subjects, and rhGH therapy may be effective in increasing height in most of these patients independent of their GH secretory status, without causing any adverse events of concern.
23028966 Data identified the homeodomain protein HOXA9 as a positive regulator of SHOX expression in U2OS cells.
22946287 Employing microarray analyses and cell culture experiments, a strong effect of SHOX on the expression of the natriuretic peptide BNP and the fibroblast growth factor receptor gene FGFR3 could be demonstrated
22903874 The presence of SHOX mutations suggest genotypic-phenotypic overlap between hypochondroplasia and Leri-Weill dyschondrosteosis.
22791839 The identified recurrent PAR1 deletion results in the loss of this previously unreported enhancer which we propose may decrease SHOX transcription, resulting in Leri-Weill dyschondrosteosis or idiopathic short stature due to SHOX haploinsufficiency.
22572840 genetic association studies in a population of German children: Data suggest that mutations in SHOX and/or IGF1R (but not IGF1) are associated with short stature in a small percentage of short children.
22518848 SHOX deletions and point mutations as well as downstream SHOX enhancer deletions were identified in almost one third of the patients tested.
22071895 one deletion encompassed two of the three upstream enhancers in a family with idiopathic short stature
22020182 Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect.
21925981 Patients with deletions of the distal segment of the short arm of X chromosome including haploinsufficiency of SHOX have short stature, skeletal abnormalities and hearing impairments. Review.
21912078 Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the SHOX gene anomaly.
21806840 Our study in an extensive cohort of patients with Mullerian aplasia does not support a role for SHOX copoy number variations in the etiology of the disorder
21712857 we have identified A170P as the first frequent SHOX mutation in Gypsy Leri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD) individuals.
21454626 there is a functional redundancy between human SHOX and mouse Shox2 in the regulation of SAN formation and pacemaking function in addition to several other organs
21448463 SHOX expression is regulated by different mechanisms and alternative splicing.
21325865 SHOX is a nuclear protein that binds to DNA and acts as a transcriptional activator [review]
21273290 chromatin immunoprecipitation and electrophoretic mobility shift assay experiments suggest a direct binding of fibroblast growth factor receptor 3
21262861 identified SOX5 and SOX6 as the first two SHOX-interacting proteins and have shown that this interaction regulates aggrecan expression, an essential factor in chondrogenesis and skeletal development.
21150837 SHOX defects are the most important monogenetic cause of short stature
21147883 Multiplex ligation-dependent probe amplificationof SHOX led to the identification of partial and complete SHOX duplications or multiple copies associated with Leri-Weill dyschondrosteosis or idiopathic short stature
21068148 In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated
21057179 identification of evolutionarily conserved non-coding DNA elements (CNE)and functional studies have shown that one of these CNE downstream of the SHOX gene is necessary for the expression of SHOX; typical "enhancer" activity.
21057178 SHOX deficiency could be one of the most frequent monogenetic causes of short stature.
21057177 SHOX has a particular importance in bone growth and maturation.
20847698 study found partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Kuster-Hauser type I syndrome
20683993 A new class of enhancer deletions was identified 30-250 kb downstream of SHOX
20412871 Deletions of SHOX is associated with Leri-Weill dyschondrosteosis.
20375215 our PCR-based test for SHOX is highly recommended for molecular diagnostics of idiopathic short stature
20375215 Observational study of genetic testing. (HuGE Navigator)
19997128 SHOX upstream deletions occur at a lower frequency because of the structural organization of this genomic region.
19724992 we summarize the genetic and clinical features of the various SHOX haploinsufficiency-associated disorders.
19578035 Enhancer deletions in the SHOX gene region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome.
19188742 Patients with SHOX deficiency receive similar final height benefit from GH treatment to those with Turner syndrome.
19016538 increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis
18797583 SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions and it explains 2/3 of short stature observed in Turner syndrome
18322641 Cryptic intragenic deletions account for a small fraction of Leri-Weill dyschondrosteosis.
18059093 SHOX gene alterations may play a role in the determinism of growth impairment in short children with muscular dystrophies.
17994562 skeletal dysplasia in both mother and son is allelic with LWD and LMD and results from a novel misexpression of SHOX
17935511 Homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
17911654 SHOX mutations may have a role in development of short stature
17881654 BNP represents a direct target of SHOX.
17201812 patients with SHOX mutations present a broad phenotypic variability; SHOX mutations are very frequent in Leri-Weill dyschondrosteosis (89%), in opposition to idiopathic short stature (3.2%) in our cohort
17200153 Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
17182655 Screening of 1608 unrelated individuals with sporadic or familial short stature revealed SHOX mutations or deletions in 68 individuals (4.2%): complete deletions in 48 (70.6%), partial deletions in 4 (5.9%) and point mutations in 16 individuals (23.5%).
16941489 Pseudoautosomal region 1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands.
16826534 In contrast to previous reports, Leri-Weill dyschondrosteosis-causing SHOX deletions are very heterogeneous.
16807223 Review on clinical and molecular data associated SHOX gene defects.
16597678 54 SHOX anomalies were observed, including 42 (68%) in the dyschondrosteosis group and 12 (15%) in the idiopathic short stature (ISS) group.
16175500 findings suggest the presence of distal regulatory elements of SHOX transcription in PAR1 or, alternatively, the existence of an additional locus apparently involved in the control of skeletal development
15931687 nine different amino acid exchanges in the homeodomain of SHOX patients with idiopathic short stature and Leri-Weill dyschondrosteosis
15931595 we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint.
15529627 Height is reduced in Turner syndrome due to haploinsufficiency of SHOX gene, an Xp chromosome gene that escapes inactivation.
15292358 SHOX may play role in chondrocyte function in growth plate.
15214013 a compound heterozygote with two independent deletions of Xpter-Xp22.12 including SHOX (one inherited and one arising from a de novo event) results in Langer mesomelic dwarfism
15173321 Nuclear localization is a mechanistic basis for SHOX-related diseases.
15145945 SHOX is a regulator of cellular proliferation and viability
15118270 Gonadal estrogens have a deleterious effect on pubertal growth in SHOX haploinsufficiency.
14981722 chromosomal rearrangement resulted in the deletion of SHOX but not SRY.
14513875 SHOX is a major growth gene and that mutations are associated with a broad range of phenotype
12960152 functional SHOX protein levels are regulated by a combination of transcriptional and translational control mechanisms
12784295 SHOX deletion is aasociated with short stature
12089524 Crossover clustering and rapid decay of disequilibrium linkage in the Xp/Yp pseudoautosomal gene was studied.
11891678 Point mutations and large deletions cause dyschondrosteosis (Leri-Weill syndrome).
11889216 Observational study of genotype prevalence. (HuGE Navigator)
11889216 Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
11889214 mesomelic skeletal features such as Langer mesomelic dysplasia and LWDC are primarily caused by the SHOX dosage effect
11874178 SHOX intragenic microsatellite might be a useful molecular marker to detect Turner syndrome and when skeletal disproportion is associated with short stature a significant proportion of patients is found to have a single SHOX allele
11751690 Product is a sequence-specific DNA-binding protein which acts as a transcriptional activator.
11716161 role of SHOX defects in idiopathic short stature and skeletal dysplasias
11403039 point mutations in dyschondrosteosis

AA Sequence

MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHL      1 - 70
FKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETH     71 - 140
YPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQ    141 - 210
QVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLR    211 - 280
LKARKHAEALGL                                                              281 - 292
//

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?
24008148 2013 Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
23883335 2014 Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
23666967 2013 Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.
23575226 2013 Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions.
23570464 2013 Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis.
23426818 2012 A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells.
23426705 2013 Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency.
23208451 2012 Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
23028966 2012 The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures.
22946287 2012 New roles of SHOX as regulator of target genes.
22903874 2012 New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
22791839 2012 Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.
22572840 2012 IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).
22518848 2012 Genotypes and phenotypes of children with SHOX deficiency in France.
22071895 2012 Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
22020182 2012 SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.
21925981 2011 The role of the SHOX gene in the pathophysiology of Turner syndrome.
21912078 2011 Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.
21806840 2011 Evaluation of SHOX copy number variations in patients with Müllerian aplasia.
21712857 2011 Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
21454626 2011 Functional redundancy between human SHOX and mouse Shox2 genes in the regulation of sinoatrial node formation and pacemaking function.
21448463 2011 Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression.
21325865 2011 Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
21273290 2011 FGFR3 is a target of the homeobox transcription factor SHOX in limb development.
21262861 2011 SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
21150837 2010 Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.
21147883 2011 Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
21068148 2011 The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
21057179 2010 The SHOX region and its mutations.
21057178 2010 Epidemiology of SHOX deficiency.
21057177 2010 A short history of the initial discovery of the SHOX gene.
20847698 2010 SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
20683993 2010 Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
20412871 Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
20375215 2010 Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
19997128 2010 Enhancer elements upstream of the SHOX gene are active in the developing limb.
19724992 2009 Imaging of SHOX-associated anomalies.
19578035 2009 Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.
19188742 2009 Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
19016538 2009 SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome.
18797583 2008 [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].
18322641 2008 Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.
18059093 2008 Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.
17994562 2007 Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
17935511 2007 The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.
17911654 2007 Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.
17881654 2007 BNP is a transcriptional target of the short stature homeobox gene SHOX.
17201812 2007 SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
17200153 2007 Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
17182655 2007 Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.
16941489 2006 PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
16826534 2006 Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
16807223 Short stature and dysmorphology associated with defects in the SHOX gene.
16597678 2006 High incidence of SHOX anomalies in individuals with short stature.
16175500 2005 A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
15931687 2005 Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
15931595 2005 Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.
15772651 2005 The DNA sequence of the human X chromosome.
15529627 2004 Cardiovascular risk factors in Turner syndrome.
15292358 2004 Expression of SHOX in human fetal and childhood growth plate.
15214013 2004 SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.
15173321 2004 Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
15145945 2004 The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes.
15118270 2004 Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.
14981722 2004 Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
14513875 2003 Familial growth and skeletal features associated with SHOX haploinsufficiency.
12960152 2003 Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.
12784295 2003 Deletion of the SHOX gene in patients with short stature of unknown cause.
12116254 2002 Complete SHOX deficiency causes Langer mesomelic dysplasia.
12089524 2002 Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.
11891678 2001 Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).
11889214 2002 SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
11751690 2001 The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.
11403039 2001 SHOX point mutations in dyschondrosteosis.
11030412 2000 Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.
9590293 1998 Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
9590292 1998 SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
9259282 1997 PHOG, a candidate gene for involvement in the short stature of Turner syndrome.
9254856 1997 FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes.
9140395 1997 Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
8558568 1995 Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).
7815426 1994 X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.
6954848 1982 The role of Yp in sex determination: new evidence from X/Y translocations.
2602357 1989 Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.