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SHOX belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Additionally we are shipping SHOX Antibodies (25) and SHOX Proteins (2) and many more products for this protein.
demonstrate evolutionarily conserved Shox plays roles in early embryonic growth and in later bone formation.
The expression pattern of the shox gene across the whole embryo and characterise the enhancer domains of different conserved non-coding elements associated with this gene, is reported.
SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation.
Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis (show CISH ELISA Kits)-regulatory machinery of this gene.
Mutation analysis of the SHOX gene indicated that a novel heterozygous deletion mutation of SHOX was responsible for the isolated Madelung deformity disease
mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength
Polymorphic variants detected in exon 1 of SHOX gene associated with idiopathic short stature.
Findings support the hypothesis that SHOX may play a central role in the regulation of the cell death pathways activated during long bone development.
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
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.
Although human SHOX can exert similar functions to mouse Shox2 (show SHOX2 ELISA Kits) in regulating early temporomandibular joint development, it apparently has a distinct function in the regulation of those molecules that are involved in tissue homeostasis.
Data provide new information about the spectrum of phenotypic alterations showed by Leri-Weill dyschondrosteosis patients with different deletions of the SHOX enhancer region.
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
short stature homeobox protein
, growth control factor, X-linked
, pseudoautosomal homeobox-containing osteogenic protein