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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. Zusätzlich bieten wir Ihnen SHOX Antikörper (29) und SHOX Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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.
A concomitant duplication of SHOX enhancers may be required to trigger a NDD 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 (zeige PSME3 ELISA Kits) 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.
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