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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 (28) and many more products for this protein.
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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.
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
This study shows that expressing human SHOX in Shox2SHOX KI/KI (show PSME3 Proteins) mice leads to congenital osteoarthritislike disease of the temporomandibular joint in postnatal mice. This provides a novel in vivo model for studying the molecular and cellular mechanisms of temporomandibular joint osteoarthritis.
we detected an SHOX gene deletion in 1 of 38 children with idiopathic short stature
The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.
this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs.
SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation.
Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis (show CISH Proteins)-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.
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