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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. 再加上，我们可以发SHOX 抗体 (35) 和 和数多这个蛋白质的别的产品。
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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.
SHOX deficiency is associated with growth disorders.
extra SHOX copy found in three of 81 girls with tall stature
SHOX mutations: etiopathogenesis of short stature and limb development.
SHOX haploinsufficiency has a role in short stature in children
A concomitant duplication of SHOX enhancers may be required to trigger a NDD (显示 NDD 蛋白) in females.
Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
SHOX duplications encompassing CNE-9 enhancer are highly penetrant alleles for Leri-Weill dyschondrosteosis.
Evaluation of the data and that in the literature reveals that although partial deletions and duplications only account for a small fraction of SHOX alterations, intron 3 appears to be a breakpoint hotspot, with alterations arising by non-allelic homologous recombination, non-homologous end joining or other complex mechanisms.
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 (显示 PSME3 蛋白) 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.
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