Recombinant Human Short stature homeobox protein (SHOX)

1. A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5. The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan. PMID: 29254682
2. SHOX deficiency is associated with growth disorders. PMID: 29197219
3. extra SHOX copy found in three of 81 girls with tall stature PMID: 28667773
4. SHOX mutations: etiopathogenesis of short stature and limb development. PMID: 27355317
5. SHOX haploinsufficiency has a role in short stature in children PMID: 27814343
6. A concomitant duplication of SHOX enhancers may be required to trigger a NDD in females. PMID: 27073233
7. Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency. PMID: 27861128
8. SHOX duplications encompassing CNE-9 enhancer are highly penetrant alleles for Leri-Weill dyschondrosteosis. PMID: 28629824
9. 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. PMID: 27604558
10. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. PMID: 27676402
11. This study shows that expressing human SHOX in Shox2SHOX KI/KI 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. PMID: 27601064
12. we detected an SHOX gene deletion in 1 of 38 children with idiopathic short stature PMID: 26758084
13. 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. PMID: 27994182
14. 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. PMID: 26984564
15. SHOX haploinsufficiency is associated with 45,X disorder of sexual differentiation. PMID: 25781530
16. Microduplications involving SHOX cause Idiopathic short stature by disrupting the cis-regulatory machinery of this gene. PMID: 26040210
17. Mutation analysis of the SHOX gene indicated that a novel heterozygous deletion mutation of SHOX was responsible for the isolated Madelung deformity disease PMID: 25572239
18. mutations in SHOX gene may have an impact on bone microarchitecture albeit not bone strength PMID: 25220427
19. Polymorphic variants detected in exon 1 of SHOX gene associated with idiopathic short stature. PMID: 25189248
20. Findings support the hypothesis that SHOX may play a central role in the regulation of the cell death pathways activated during long bone development. PMID: 24186869
21. 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 PMID: 23883335
22. 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. PMID: 24296787
23. 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. PMID: 24248941
24. Data provide new information about the spectrum of phenotypic alterations showed by Leri-Weill dyschondrosteosis patients with different deletions of the SHOX enhancer region. PMID: 25056248
25. SHOX haploinsufficiency is not associated with Y-chromosome microdeletions. PMID: 24008148
26. Children with SHOX deficiency demonstrated a mesomelic shortening of extremities. PMID: 24051572
27. rhGH therapy improves height outcome of SHOXD patients. PMID: 23570464
28. 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. PMID: 23575226
29. 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). PMID: 23666967
30. 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. PMID: 23426705
31. 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. PMID: 23208451
32. Mutant SHOX minigene generated only the smaller transcript PMID: 23426818
33. SHOX has a particular importance in bone growth and maturation. PMID: 21057177
34. SHOX deficiency could be one of the most frequent monogenetic causes of short stature. PMID: 21057178
35. 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. PMID: 21057179
36. Data identified the homeodomain protein HOXA9 as a positive regulator of SHOX expression in U2OS cells. PMID: 23028966
37. The presence of SHOX mutations suggest genotypic-phenotypic overlap between hypochondroplasia and Leri-Weill dyschondrosteosis. PMID: 22903874
38. 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. PMID: 22791839
39. 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 PMID: 22946287
40. SHOX deletions and point mutations as well as downstream SHOX enhancer deletions were identified in almost one third of the patients tested. PMID: 22518848
41. 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. PMID: 22572840
42. we have identified A170P as the first frequent SHOX mutation in Gypsy Leri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD) individuals. PMID: 21712857
43. one deletion encompassed two of the three upstream enhancers in a family with idiopathic short stature PMID: 22071895
44. Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the SHOX gene anomaly. PMID: 21912078
45. 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. PMID: 21925981
46. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. PMID: 22020182
47. 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 PMID: 21806840
48. 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. PMID: 21262861
49. chromatin immunoprecipitation and electrophoretic mobility shift assay experiments suggest a direct binding of fibroblast growth factor receptor 3 PMID: 21273290
50. 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 PMID: 21454626

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HGNC: 10853

OMIM: 127300

KEGG: hsa:6473

STRING: 9606.ENSP00000370990

UniGene: Hs.105932