SHOX

Summary

Gene Symbol: SHOX
Description: short stature homeobox
Alias: GCFX, PHOG, SHOXY, short stature homeobox protein, growth control factor, X-linked, pseudoautosomal homeobox-containing osteogenic protein
Species: human
Products:     SHOX

Top Publications

  1. Durand C, Roeth R, Dweep H, Vlatkovic I, Decker E, Schneider K, et al. Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. PLoS ONE. 2011;6:e18115 pubmed publisher
    The human SHOX gene is composed of seven exons and encodes a paired-related homeodomain transcription factor...
  2. Salmon Musial A, Rosilio M, David M, Huber C, Pichot E, Cormier Daire V, et al. Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis. Horm Res Paediatr. 2011;76:178-85 pubmed publisher
    To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis. Monocentric retrospective observational study...
  3. Caliebe J, Broekman S, Boogaard M, Bosch C, Ruivenkamp C, Oostdijk W, et al. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). Horm Res Paediatr. 2012;77:250-60 pubmed publisher
    ..After selection with a modified scoring system for SHOX and a novel score for IGF1 and IGF1R defects, direct sequencing and multiplex ligation-dependent probe ..
  4. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997;16:54-63 pubmed
    ..3 with normal height. We have isolated a homeobox-containing gene (SHOX) from this region, which has at least two alternatively spliced forms, encoding proteins with different patterns of ..
  5. Blaschke R, Töpfer C, Marchini A, Steinbeisser H, Janssen J, Rappold G. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. J Biol Chem. 2003;278:47820-6 pubmed
    ..and translational regulatory mechanisms controlling the expression of the Léri-Weill and Turner syndrome gene SHOX. We define an alternative promotor within exon 2 of the SHOX gene by transient transfections of mono- and ..
  6. Benito Sanz S, Thomas N, Huber C, Gorbenko del Blanco D, Del Blanco D, Aza Carmona M, et al. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet. 2005;77:533-44 pubmed
    ..quot; SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with ..
  7. Jorge A, Souza S, Nishi M, Billerbeck A, Libório D, Kim C, et al. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf). 2007;66:130-5 pubmed
    The frequency of SHOX mutations in children with idiopathic short stature (ISS) has been found to be variable...
  8. Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, et al. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis. J Hum Genet. 2008;53:454-9 pubmed publisher
    Although short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri-Weill dyschondrosteosis (LWD), the molecular defect has not been identified in approximately 20% of Japanese LWD patients...
  9. Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G. Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet. 2010;18:527-32 pubmed publisher
    ..b>SHOX gene mutations and deletions of regulatory elements downstream of SHOX resulting in haploinsufficiency have been ..

More Information

Publications101 found, 100 shown here

  1. D Haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns J, et al. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab. 2010;95:3010-8 pubmed publisher
    ..Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, ..
  2. Binder G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr. 2011;75:81-9 pubmed publisher
    b>SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation...
  3. Munns C, Haase H, Crowther L, Hayes M, Blaschke R, Rappold G, et al. Expression of SHOX in human fetal and childhood growth plate. J Clin Endocrinol Metab. 2004;89:4130-5 pubmed
    ..skeletal deformity including Leri Weil syndrome, which has been shown to result from deletions or mutations in the SHOX gene, a homeobox gene located at the pseudoautosomal region of the X and Y chromosome...
  4. Rappold G, Blum W, Shavrikova E, Crowe B, Roeth R, Quigley C, et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet. 2007;44:306-13 pubmed
    ..Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature...
  5. Sabherwal N, Bangs F, Röth R, Weiss B, Jantz K, Tiecke E, et al. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet. 2007;16:210-22 pubmed
    ..is a dominant skeletal malformation syndrome caused by mutations in the short stature homeobox gene SHOX. We have analysed four families with Léri-Weill dyschondrosteosis with deletions in the pseudoautosomal region but ..
  6. Bleyl S, Byrne J, South S, Dries D, Stevenson D, Rope A, et al. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Am J Med Genet A. 2007;143A:2785-95 pubmed
    ..Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic ..
  7. Benito Sanz S, Barroso E, Heine Suñer D, Hisado Oliva A, Romanelli V, Rosell J, et al. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab. 2011;96:E404-12 pubmed publisher
    ..b>SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in ..
  8. Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi M, et al. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet A. 2003;119A:293-6 pubmed
    ..was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population...
  9. Huber C, Rosilio M, Munnich A, Cormier Daire V. High incidence of SHOX anomalies in individuals with short stature. J Med Genet. 2006;43:735-9 pubmed
    To study the SHOX gene and the PAR1 region in individuals with short stature. The study involved 56 cases of dyschondrosteosis and 84 cases of idiopathic short stature (ISS)...
  10. Chen J, Wildhardt G, Zhong Z, Roth R, Weiss B, Steinberger D, et al. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet. 2009;46:834-9 pubmed publisher
    Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature...
  11. Gervasini C, Grati F, Lalatta F, Tabano S, Gentilin B, Colapietro P, et al. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. Genet Med. 2010;12:634-40 pubmed publisher
    ..The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome...
  12. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A. 1989;86:10001-5 pubmed
    ..The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region. ..
  13. Ellison J, Wardak Z, Young M, Gehron Robey P, Laig Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet. 1997;6:1341-7 pubmed
    ..We have named the gene PHOG, for pseudoautosomal homeobox-containing osteogenic gene...
  14. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet. 1998;19:67-9 pubmed
    ..26 at theta=0). The short stature homeobox-containing gene (SHOX), involved in idiopathic growth retardation and possibly Turner short stature, maps to this region and was ..
  15. Shears D, Vassal H, Goodman F, Palmer R, Reardon W, Superti Furga A, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet. 1998;19:70-3 pubmed
    ..identified submicroscopic PAR1 deletions encompassing the recently described short stature homeobox-containing gene SHOX (refs 7,8) segregating with the LWD phenotype in 5 families...
  16. Decker E, Durand C, Bender S, Rödelsperger C, Glaser A, Hecht J, et al. FGFR3 is a target of the homeobox transcription factor SHOX in limb development. Hum Mol Genet. 2011;20:1524-35 pubmed publisher
    The short stature homeobox gene SHOX encodes a transcription factor which is important for normal limb development...
  17. Benito Sanz S, Royo J, Barroso E, Paumard Hernández B, Barreda Bonis A, Liu P, et al. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012;49:442-50 pubmed publisher
    b>SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth...
  18. Rao E, Blaschke R, Marchini A, Niesler B, Burnett M, Rappold G. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet. 2001;10:3083-91 pubmed
    Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome...
  19. Rappold G, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab. 2002;87:1402-6 pubmed
    ..Mutations of a human homeobox gene, SHOX (short stature homeobox), have recently been shown to be associated with the short stature phenotype in patients ..
  20. Marchini A, Marttila T, Winter A, Caldeira S, Malanchi I, Blaschke R, et al. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J Biol Chem. 2004;279:37103-14 pubmed
    Mutations in the homeobox gene SHOX cause growth retardation and the skeletal abnormalities associated with Léri-Weill, Langer, and Turner syndromes...
  21. Skuplik I, Benito Sanz S, Rosin J, Bobick B, Heath K, Cobb J. Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene. Sci Rep. 2018;8:14292 pubmed publisher
    Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist...
  22. Li L, Li Q, Wang Q, Liu L, Li R, Liu H, et al. Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome. Biosci Rep. 2019;39: pubmed publisher
    ..3, 7p22.2, and Xp22.33, where six genes (TTYH3, AMZ1, GNA12, BC038729, CARD11, and SHOX (stature homeobox)) are located, were found in TS patients...
  23. Kang M. Novel genetic cause of idiopathic short stature. Ann Pediatr Endocrinol Metab. 2017;22:153-157 pubmed publisher
    ..Rapid development of diagnostic technologies has enabled discovery of many genetic causes of ISS. This paper discusses 5 genes, SHOX, NPR2, NPPC, FGFR3, and ACAN, that may lead to better understanding of ISS.
  24. Rafati N, Andersson L, Mikko S, Feng C, Raudsepp T, Pettersson J, et al. Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda). 2016;6:2213-23 pubmed publisher
    ..One of these deletions removes the entire coding region of the SHOX gene and both deletions remove parts of the CRLF2 gene located downstream of SHOX...
  25. Cuesta Hernández M, Rueda Valencia M, Pérez Rodríguez O, López de Lara D. [X isochromosomes: delayed diagnosis of Turner's syndrome]. An Pediatr (Barc). 2015;82:e131-4 pubmed publisher
    ..Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes...
  26. Liang W, Li X, Chen H, Shao X, Lin X, Shen J, et al. Expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritis?like disease of the temporomandibular joint in postnatal mice. Mol Med Rep. 2016;14:3676-82 pubmed publisher
    ..A marked increase in matrix metalloproteinase 9 (MMP9) and MMP13 in the condyles was also observed. These cellular and molecular defects may contribute to the observed (OA)?like phenotype of Shox2SHOX KI/KI mouse TMJs. ..
  27. Hristov G, Marttila T, Durand C, Niesler B, Rappold G, Marchini A. SHOX triggers the lysosomal pathway of apoptosis via oxidative stress. Hum Mol Genet. 2014;23:1619-30 pubmed publisher
    The SHOX gene encodes for a transcription factor important for normal bone development...
  28. Hirschfeldova K, Solc R. Comparison of SHOX and associated elements duplications distribution between patients (L?ri-Weill dyschondrosteosis/idiopathic short stature) and population sample. Gene. 2017;627:164-168 pubmed publisher
    The effect of heterozygous duplications of SHOX and associated elements on L?ri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions...
  29. Genoni G, Monzani A, Castagno M, Ricotti R, Rapa A, Petri A, et al. Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity. Pediatr Res. 2017;: pubmed publisher
    ..aim of this study was to estimate the prevalence of haploinsufficiency of short stature homeobox containing gene (SHOX) deficiency (SHOXD) in a population of short-statured children, and to analyze their phenotype and the performance ..
  30. Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018;26:1113-1120 pubmed publisher
    ..We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotypes toward more severe clinical manifestations...
  31. Das K, Srivastava M, Raghavan S. GNG Motifs Can Replace a GGG Stretch during G-Quadruplex Formation in a Context Dependent Manner. PLoS ONE. 2016;11:e0158794 pubmed publisher
    ..Further, we assessed three genomic regions from HIF1 alpha, VEGF and SHOX gene for G-quadruplex formation using GNG motifs...
  32. Wit J, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab. 2015;29:353-66 pubmed publisher
    ..appears effective in increasing adult height in GH deficient children, and possibly short children born SGA or with SHOX deficiency, who are still short at pubertal onset...
  33. Tritos N, Klibanski A. Effects of Growth Hormone on Bone. Prog Mol Biol Transl Sci. 2016;138:193-211 pubmed publisher
    ..retardation who do not demonstrate catchup growth, idiopathic short stature, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome...
  34. Singh M, Bhatia P, Trehan A, Varma N, Sachdeva M, Bansal D, et al. High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction. Leuk Res. 2018;66:79-84 pubmed publisher
    ..CNAs in IKZF1, PAX5, EBF1, BTG1, RB1, CDKN2A/B and genes from PAR1 region viz., CSF2RA, IL3RA,P2RY8, SHOX region and CRLF2 were analyzed by multiplex ligation dependent probe amplification assay and were detected in 70% (..
  35. Chen C, Chen C, Chern S, Wu P, Chen Y, Chen S, et al. Molecular cytogenetic characterization of Xp22.32?pter deletion and Xq26.3?qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversio. Taiwan J Obstet Gynecol. 2016;55:705-711 pubmed publisher
    ..56-Mb deletion of Xp22.33-p22.32 encompassing SHOX, CSF2RA, and ARSE, and a 19.22-Mb duplication of Xq26...
  36. Sabherwal N, Schneider K, Blaschke R, Marchini A, Rappold G. Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. J Cell Sci. 2004;117:3041-8 pubmed
    We report the characterization of the nuclear localization signal (NLS) of the short stature homeobox gene SHOX. Mutations within the SHOX gene cause Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LD) as well as ..
  37. Leka S, Kitsiou Tzeli S, Kalpini Mavrou A, Kanavakis E. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones (Athens). 2006;5:107-18 pubmed
    Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced...
  38. Durand C, Decker E, Roeth R, Schneider K, Rappold G. The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures. PLoS ONE. 2012;7:e45369 pubmed publisher
    The homeobox gene SHOX encodes for a transcription factor that plays an important role during limb development...
  39. Hisado Oliva A, Garre Vázquez A, Santaolalla Caballero F, Belinchón A, Barreda Bonis A, Vasques G, et al. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis. J Clin Endocrinol Metab. 2015;100:E1133-42 pubmed publisher
    b>SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci...
  40. Benito Sanz S, Belinchon Martínez A, Aza Carmona M, de la Torre C, Huber C, Gonzalez Casado I, et al. Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. J Hum Genet. 2017;62:229-234 pubmed publisher
    Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth...
  41. Huber C, Cusin V, Le Merrer M, Mathieu M, Sulmont V, Dagoneau N, et al. SHOX point mutations in dyschondrosteosis. J Med Genet. 2001;38:323 pubmed
  42. Reish O, Huber C, Altarescu G, Chapman Shimshoni D, Levy Lahad E, Renbaum P, et al. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A. 2010;152A:2230-5 pubmed publisher
    Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively...
  43. Nicolosi A, Caruso Nicoletti M. Epidemiology of SHOX deficiency. J Endocrinol Invest. 2010;33:7-10 pubmed
    Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature...
  44. Donze S, Meijer C, Kant S, Zandwijken G, Van der Hout A, van Spaendonk R, et al. The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects. Eur J Endocrinol. 2015;173:611-21 pubmed publisher
    Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment...
  45. Wit J, Oostdijk W, Losekoot M, van Duyvenvoorde H, Ruivenkamp C, Kant S. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. Eur J Endocrinol. 2016;174:R145-73 pubmed publisher
    ..Heterozygous NPR2 or SHOX defects may be found in ∼3% of short children, and also rasopathies (e.g...
  46. Barroso E, Benito Sanz S, Belinchón A, Yuste Checa P, Gracia R, Aragones A, et al. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD). Eur J Med Genet. 2010;53:204-7 pubmed publisher
    ..Two regions of the pseudoautosomal region 1 (PAR1) have been shown to be involved in LWD, SHOX (short-stature homeobox-containing gene) and the downstream enhancer region...
  47. Wiland E, Yatsenko A, Kishore A, Stanczak H, Zdarta A, Ligaj M, et al. FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male. Reprod Biomed Online. 2015;31:217-24 pubmed publisher
    ..221::p11.31→qter).ish der(Y) (qter+,pter-,SHOX+,SRY+,Ycen+,DYZ3+;DYZ1+,qter+).arrYq11.221q12(14,448,863-59,288,511) x2, Yp11.32p11.31(104,062-266,388) x0...
  48. Calzada León R. [Use of recombinant Human Growth Hormone (rHGH)]. Rev Med Inst Mex Seguro Soc. 2017;55:196-213 pubmed
    ..with growth hormone deficiency, Turner syndrome, chronic renal failure, Prader-Willi syndrome, Noonan syndrome, SHOX deficiency, intrauterine growth retardation and idiopathic short stature...
  49. Nikkel S. Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. Curr Osteoporos Rep. 2017;15:419-424 pubmed publisher
    ..There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those ..
  50. Jorge A, Arnhold I. Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. J Med Genet. 2007;44:e90; author reply e91 pubmed
  51. Rosilio M, Huber Lequesne C, Sapin H, Carel J, Blum W, Cormier Daire V. Genotypes and phenotypes of children with SHOX deficiency in France. J Clin Endocrinol Metab. 2012;97:E1257-65 pubmed publisher
    The prevalence of SHOX deficiency in children with short stature (SS) is variable in the literature and various genotypes have been identified...
  52. Rappold G, Durand C, Decker E, Marchini A, Schneider K. New roles of SHOX as regulator of target genes. Pediatr Endocrinol Rev. 2012;9 Suppl 2:733-8 pubmed
    The homeobox gene SHOX encodes a transcription factor which is important for normal limb development. Approximately 5 to 10% of short patients exhibit a mutation or deletion in either the SHOX gene or its downstream enhancer regions...
  53. Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, et al. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. Hum Genet. 1997;100:236-9 pubmed
    ..A minimal tiling path of 6-8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic short stature. ..
  54. Liu H, Chen C, Espinoza Lewis R, Jiao Z, Sheu I, Hu X, et al. Functional redundancy between human SHOX and mouse Shox2 genes in the regulation of sinoatrial node formation and pacemaking function. J Biol Chem. 2011;286:17029-38 pubmed publisher
    ..5, as demonstrated by failed differentiation of SAN in Shox2 null mice. The SHOX (short stature homeobox) gene family consists of two closely related members, SHOX and SHOX2 in humans, but a SHOX ..
  55. Lee C, Jeong H, Yoo D, Kim E, Nam B, Kim H. Coelacanth-specific adaptive genes give insights into primitive evolution for water-to-land transition of tetrapods. Mar Genomics. 2018;38:89-95 pubmed publisher
    ..we identified coelacanth-specific amino acid substitutions, and also observed that one of replacements in SHOX was shared with extant tetrapods...
  56. Kuznetzova T, Baranov A, Ivaschenko T, Savitsky G, Lanceva O, Wang M, et al. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. J Med Genet. 1994;31:649-51 pubmed
    ..The proband's phenotype and its correlation with the genetic imbalance of the rearranged X chromosomes, as well as with non-random t(X;Y) chromosome inactivation, are briefly discussed. ..
  57. Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, et al. Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function. Hum Reprod. 2017;32:465-475 pubmed publisher
    ..in PARs by multiplex ligation-dependent probe amplification (MLPA), followed by qPCR analysis for genes in PAR1 (SHOX and ZBED1), PAR2 (IL9R) and two single copy genes (SRY and DDX3Y, respectively located in Yp11.3 and AZFa)...
  58. Oliveira C, Alves C. The role of the SHOX gene in the pathophysiology of Turner syndrome. Endocrinol Nutr. 2011;58:433-42 pubmed publisher
    ..with deletions of the distal segment of the short arm of X chromosome (Xp-) including haploinsufficiency of the SHOX (short stature homeobox) have, more often, short stature, skeletal abnormalities and hearing impairments...
  59. Frederiksen A, Hansen S, Brixen K, Frost M. Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation. Bone. 2014;69:23-9 pubmed publisher
    Short-stature homeobox (SHOX) gene haploinsufficiency may cause skeletal dysplasia including Léri-Weill Dyschondrosteosis (LWD), a clinical entity characterised by the triad of low height, mesomelic disproportion and Madelung's ..
  60. Cancemi D, Iannuzzi A, Perucatti A, Montano L, Capozzi O, Spampanato C, et al. Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects. J Appl Genet. 2017;58:481-486 pubmed publisher
    ..and AZF) seems to be tolerated by fertile males, while mutations, deletions, duplications or haploinsufficiency of SHOX can originate a wide range of phenotypes, including short stature and skeletal abnormalities...
  61. Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, et al. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J Med Genet. 1995;32:831-4 pubmed
  62. Day G, Szvetko A, Griffiths L, McPhee I, Tuffley J, Labrom R, et al. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. J Orthop Res. 2009;27:807-13 pubmed publisher
    Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis)...
  63. Sandbacka M, Halttunen M, Jokimaa V, Aittomaki K, Laivuori H. Evaluation of SHOX copy number variations in patients with Müllerian aplasia. Orphanet J Rare Dis. 2011;6:53 pubmed publisher
    ..A recent report of partial SHOX duplications in five patients with MA has motivated us to further evaluate their role in the disorder...
  64. Massart F, Bizzi M, Baggiani A, Miccoli M. Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis. Pharmacogenomics. 2013;14:607-12 pubmed publisher
    Patients with mutations or deletions of the SHOX gene present variable growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX haplodeficiency (SHOXD) remain short into adulthood...
  65. Soucek O, Zapletalova J, Zemkova D, Snajderova M, Novotna D, Hirschfeldova K, et al. Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius. J Clin Endocrinol Metab. 2013;98:E1241-7 pubmed publisher
    ..with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene...
  66. Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, et al. Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. Hum Reprod. 2013;28:3155-60 pubmed publisher
    Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents? The present study shows that SHOX haploinsufficiency is unlikely to be ..
  67. Ezquieta B, Cueva E, Oliver A, Gracia R. SHOX intragenic microsatellite analysis in patients with short stature. J Pediatr Endocrinol Metab. 2002;15:139-48 pubmed
    b>SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome...
  68. Munns C, Glass I, Flanagan S, Hayes M, Williams B, Berry M, et al. Familial growth and skeletal features associated with SHOX haploinsufficiency. J Pediatr Endocrinol Metab. 2003;16:987-96 pubmed
    This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and phenotype of 26 SHOX haploinsufficient individuals with 45 relatives and population standards...
  69. Jorge A, Funari M, Nishi M, Mendonca B. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Pediatr Endocrinol Rev. 2010;8:79-85 pubmed
    Heterozygous SHOX defects are observed in about 50 to 90% of patients with Leri-Weill dyschondrosteosis (LWD), a common dominant inherited skeletal dysplasia; and in 2 to 15% of children with idiopathic short stature (ISS), indicating ..
  70. Ambrosetti F, Palicelli A, Bulfamante G, Rivasi F. Langer mesomelic dysplasia in early fetuses: two cases and a literature review. Fetal Pediatr Pathol. 2014;33:71-83 pubmed publisher
    ..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 Léri-Weill dyschondrosteosis, performing a literature review of the ..
  71. Jorge A, Nishi M, Funari M, Souza S, Arnhold I, Mendonca B. [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. Arq Bras Endocrinol Metabol. 2008;52:765-73 pubmed
    Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes...
  72. Blum W, Cao D, Hesse V, Fricke Otto S, Ross J, Jones C, et al. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res. 2009;71:167-72 pubmed publisher
    Patients with mutations or deletions of the Short Stature Homeobox-containing(SHOX) gene have variable degrees of growth impairment, with or without mesomelic skeletal dysplasia...
  73. Wolters B, Lass N, Wunsch R, Böckmann B, Austrup F, Reinehr T. Short stature before puberty: which children should be screened for SHOX deficiency?. Horm Res Paediatr. 2013;80:273-80 pubmed publisher
    We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in prepubertal short-statured children and analyzed the clinical and radiological signs...
  74. Grover M, French S, Yazdani P. Case report: long-term follow-up of a 45,X male with SHOX haploinsufficiency. J Pediatr Endocrinol Metab. 2015;28:937-41 pubmed publisher
    ..His chromosome abnormality also resulted in a deletion of the SHOX (short stature homeobox-containing) gene, which partly contributed to his short stature and skeletal features...
  75. Auger J, Baptiste A, Benabbad I, Thierry G, Costa J, Amouyal M, et al. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. Horm Res Paediatr. 2016;86:309-318 pubmed publisher
    The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation...
  76. Marstrand Joergensen M, Jensen R, Aksglaede L, Duno M, Juul A. Prevalence of SHOX haploinsufficiency among short statured children. Pediatr Res. 2017;81:335-341 pubmed publisher
    The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements...
  77. Niesler B, Fischer C, Rappold G. The human SHOX mutation database. Hum Mutat. 2002;20:338-41 pubmed
    The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, ..
  78. Lichiardopol C, Mota M. Cardiovascular risk factors in Turner syndrome. Rom J Intern Med. 2004;42:371-9 pubmed
    ..8% of controls and 6.4% were obese vs 4.8% of controls. In the Turner group we found congenital cardiac anomalies in 17.8%, hypertension in 6.5%, renal anomalies 11.3%, and hypothyroidism 29.2%. ..
  79. Bernasconi S, Garavelli L. A short history of the initial discovery of the SHOX gene. J Endocrinol Invest. 2010;33:3-6 pubmed
    ..Rao et al. in 1997 cloned a gene from the distal part of the PAR and gave it the name SHOX for "short stature homeobox-containing" gene...
  80. Danzig J, Levine M. A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells. J Pediatr Endocrinol Metab. 2012;25:889-95 pubmed publisher
    b>SHOX, the short stature homeobox-containing gene, encodes a critical regulatory protein controlling long bone growth...
  81. Solc R, Hirschfeldova K, Kebrdlova V, Baxova A. Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients. J Genet. 2014;93:505-8 pubmed
  82. Marchini A, Ogata T, Rappold G. A Track Record on SHOX: From Basic Research to Complex Models and Therapy. Endocr Rev. 2016;37:417-48 pubmed publisher
    b>SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature...
  83. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke Otto S, et al. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Mol Med. 2016;8:1455-1469 pubmed publisher
    Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia...
  84. Amasdl S, Smaili W, Natiq A, Hassani A, Sbiti A, Agadr A, et al. Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness. Cytogenet Genome Res. 2017;: pubmed publisher
    ..33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12)...
  85. Messina M, Aguennouz M, Arrigo T, Rodolico C, Valenzise M, Musumeci O, et al. Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes. Horm Res. 2008;69:124-8 pubmed
    ..2 SDS) molecular investigation revealed a G367A mutation in the short stature homeobox containing (SHOX) gene located in the Xp22.3 region, no abnormality was found in the brother with normal height (-0.1 SDS)...
  86. Song S, Balce G, Agashe M, Lee H, Hong S, Park Y, et al. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. Am J Med Genet A. 2012;158A:2456-62 pubmed publisher
    ..and tested them for mutations in the fibroblast growth factor receptor 3 (FGFR3) and the short stature homeobox (SHOX) gene. We characterized the phenotypes by clinical and radiologic findings...
  87. Rosin J, Abassah Oppong S, Cobb J. Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions. Hum Mol Genet. 2013;22:3063-76 pubmed publisher
    Disruption of presumptive enhancers downstream of the human SHOX gene (hSHOX) is a frequent cause of the zeugopodal limb defects characteristic of Léri-Weill dyschondrosteosis (LWD)...
  88. Mei L, Huang Y, Pan Q, Li H, Liang D, Wu L. Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. J Genet. 2014;93:809-12 pubmed
  89. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, et al. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet. 2016;61:585-91 pubmed publisher
    ..of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding ..
  90. Boegheim I, Leegwater P, van Lith H, Back W. Current insights into the molecular genetic basis of dwarfism in livestock. Vet J. 2017;224:64-75 pubmed publisher
    ..In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1...