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

Top Publications

  1. ncbi Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Kochstrasse 2, D 07740 Jena, Germany
    Clin Genet 59:115-21. 2001
  2. pmc Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
    Renata C Scalco
    Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM 42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, 05403 000 Sao Paulo, Brazil
    J Clin Endocrinol Metab 95:328-32. 2010
  3. pmc Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    PLoS ONE 6:e18115. 2011
  4. ncbi Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    E Rao
    Institute of Human Genetics, Heidelberg University, Germany
    Nat Genet 16:54-63. 1997
  5. ncbi PHOG, a candidate gene for involvement in the short stature of Turner syndrome
    J W Ellison
    Department of Pediatrics, University of California, San Francisco 94143, USA
    Hum Mol Genet 6:1341-7. 1997
  6. ncbi Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
    D J Shears
    Department of Clinical Genetics, Institute of Child Health, London, UK
    Nat Genet 19:70-3. 1998
  7. ncbi Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
    Gudrun A Rappold
    Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    J Clin Endocrinol Metab 87:1402-6. 2002
  8. ncbi Deletion of the SHOX gene in patients with short stature of unknown cause
    E Morizio
    Dipartimento di Scienze Biomediche, Universita G D Annunzio, Chieti, Italy
    Am J Med Genet A 119:293-6. 2003
  9. ncbi Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX
    Rudiger J Blaschke
    Institute of Human Genetics, Ruprecht Karls University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    J Biol Chem 278:47820-6. 2003
  10. pmc A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
    Sara Benito-Sanz
    Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Universidad Autonoma de Madrid, Madrid, Spain
    Am J Hum Genet 77:533-44. 2005

Detail Information

Publications178 found, 100 shown here

  1. ncbi Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation
    J Seidel
    Department of Pediatrics, Friedrich Schiller University, Kochstrasse 2, D 07740 Jena, Germany
    Clin Genet 59:115-21. 2001
    ..KAL gene demonstrating deletions of steroid sulfatase (STS), arylsulfatase E (ARSE), and short stature homeo box (SHOX) genes...
  2. pmc Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
    Renata C Scalco
    Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM 42, Disciplina de Endocrinologia, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, 05403 000 Sao Paulo, Brazil
    J Clin Endocrinol Metab 95:328-32. 2010
    Isolated heterozygous SHOX defects are the most frequent monogenic cause of short stature, and combined therapy with recombinant human GH (rhGH) and GnRH analog (GnRHa) in pubertal patients has been suggested, but there are no data on ..
  3. pmc Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    PLoS ONE 6:e18115. 2011
    The human SHOX gene is composed of seven exons and encodes a paired-related homeodomain transcription factor...
  4. ncbi Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    E Rao
    Institute of Human Genetics, Heidelberg University, Germany
    Nat Genet 16:54-63. 1997
    ..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. ncbi PHOG, a candidate gene for involvement in the short stature of Turner syndrome
    J W Ellison
    Department of Pediatrics, University of California, San Francisco 94143, USA
    Hum Mol Genet 6:1341-7. 1997
    ..We have named the gene PHOG, for pseudoautosomal homeobox-containing osteogenic gene...
  6. ncbi Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
    D J Shears
    Department of Clinical Genetics, Institute of Child Health, London, UK
    Nat Genet 19:70-3. 1998
    ..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...
  7. ncbi Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
    Gudrun A Rappold
    Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    J Clin Endocrinol Metab 87:1402-6. 2002
    ..Mutations of a human homeobox gene, SHOX (short stature homeobox), have recently been shown to be associated with the short stature phenotype in patients ..
  8. ncbi Deletion of the SHOX gene in patients with short stature of unknown cause
    E Morizio
    Dipartimento di Scienze Biomediche, Universita G D Annunzio, Chieti, Italy
    Am J Med Genet A 119:293-6. 2003
    ..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. ncbi Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX
    Rudiger J Blaschke
    Institute of Human Genetics, Ruprecht Karls University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    J Biol Chem 278:47820-6. 2003
    ..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 ..
  10. pmc A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis
    Sara Benito-Sanz
    Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Universidad Autonoma de Madrid, Madrid, Spain
    Am J Hum Genet 77:533-44. 2005
    ..b>SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with ..
  11. pmc High incidence of SHOX anomalies in individuals with short stature
    C Huber
    Department of Medical Genetics and INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sévres 75015 Paris, France
    J Med Genet 43:735-9. 2006
    To study the SHOX gene and the PAR1 region in individuals with short stature.
  12. ncbi Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients
    Nitin Sabherwal
    Department of Molecular Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Hum Mol Genet 16:210-22. 2007
    ..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 ..
  13. ncbi SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability
    Alexander A L Jorge
    Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM 42, Disciplina de Endocrinologia, Hospital das Clinicas, SP, Brazil
    Clin Endocrinol (Oxf) 66:130-5. 2007
    The frequency of SHOX mutations in children with idiopathic short stature (ISS) has been found to be variable...
  14. ncbi Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
    ..Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic ..
  15. doi Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2 10 1 Ohkura, Setagaya, Tokyo 157 8535, Japan
    J Hum Genet 53:454-9. 2008
    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...
  16. pmc Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain
    J Chen
    Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Med Genet 46:834-9. 2009
    Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature...
  17. pmc Enhancer elements upstream of the SHOX gene are active in the developing limb
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    Eur J Hum Genet 18:527-32. 2010
    ..b>SHOX gene mutations and deletions of regulatory elements downstream of SHOX resulting in haploinsufficiency have been ..
  18. doi Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Clin Endocrinol Metab 95:3010-8. 2010
    ..Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, ..
  19. doi SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome
    Cristina Gervasini
    Medical Genetics, Department of Medicine, Surgery and Dentistry, Universita degli Studi di Milano, Italy
    Genet Med 12:634-40. 2010
    ..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...
  20. doi Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS)
    S Benito-Sanz
    Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autonoma de Madrid, IdiPAZ, and Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28046 Madrid, Spain
    J Clin Endocrinol Metab 96:E404-12. 2011
    ..b>SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in ..
  21. doi Short stature due to SHOX deficiency: genotype, phenotype, and therapy
    Gerhard Binder
    University Children s Hospital, Pediatric Endocrinology and Diabetology, Tubingen, Germany gerhard binder med uni tuebingen de
    Horm Res Paediatr 75:81-9. 2011
    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...
  22. doi IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature)
    Janina Caliebe
    University Children s Hospital, Tuebingen, Germany
    Horm Res Paediatr 77:250-60. 2012
    ..Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS)...
  23. doi Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
    Sara Benito-Sanz
    Institute of Medical and Molecular Genetics INGEMM, Hospital Universitario La Paz, Universidad Autonoma de Madrid, IdiPAZ, Spain
    J Med Genet 49:442-50. 2012
    b>SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth...
  24. pmc Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
    A Ballabio
    Department of Pediatrics, University of Reggio Calabria, Catanzaro, Italy
    Proc Natl Acad Sci U S A 86:10001-5. 1989
    ..The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region...
  25. ncbi The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
    Antonio Marchini
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D 69120 Heidelberg, Germany
    J Biol Chem 279:37103-14. 2004
    Mutations in the homeobox gene SHOX cause growth retardation and the skeletal abnormalities associated with Léri-Weill, Langer, and Turner syndromes...
  26. ncbi Expression of SHOX in human fetal and childhood growth plate
    C J F Munns
    Endocrine Research Unit, Royal Children s Hospital Foundation Research Centre, and Department of Paediatrics and Child Health, University of Queensland, Royal Children s Hospital, Brisbane QLD 4029, Australia
    J Clin Endocrinol Metab 89:4130-5. 2004
    ..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...
  27. pmc Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
    Gudrun Rappold
    Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Med Genet 44:306-13. 2007
    ..Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature...
  28. ncbi SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
    V Belin
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U393, Hopital des Enfants Malades, Paris, France
    Nat Genet 19:67-9. 1998
    ..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 ..
  29. ncbi The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator
    E Rao
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    Hum Mol Genet 10:3083-91. 2001
    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...
  30. ncbi Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 86:5498-508. 2001
    Although clinical features of Turner syndrome have primarily been explained by the dosage effects of SHOX (short stature homeobox-containing gene) and the putative lymphogenic gene together with chromosomal effects leading to nonspecific ..
  31. ncbi The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome
    M L Barrenas
    Department of Audiology, Sahlgrenska University Hospital, Goteborg University, S 413 45, Goteborg, Sweden
    Hear Res 138:163-70. 1999
    ..support the hypothesis that lack of growth-regulating genes such as the short stature homeobox-containing gene (SHOX), which is located within the pseudo-autosomal region on the p-arm of the X chromosome, may increase the occurrence ..
  32. ncbi Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome
    G Binder
    University Children s Hospital and Growth Research Center, Tubingen, Germany
    Horm Res 55:71-6. 2001
    ..The loss of SHOX on Xp22.32, also called PHOG (pseudoautosomal homeobox-containing osteogenic gene), through structural aberrations of the X chromosome was also ..
  33. ncbi The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
    M Clement-Jones
    School of Biochemistry and Genetics, University of Newcastle upon Tyne, Ridley Building, Claremont Place, Newcastle NE1 7RU, UK
    Hum Mol Genet 9:695-702. 2000
    ..Madelung deformity is also a key feature of Leri-Weill syndrome. Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsufficiency of SHOX was ..
  34. ncbi Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    J Clin Endocrinol Metab 85:2927-30. 2000
    ..paintings showed that the der(X) chromosome was associated with duplication of roughly distal half of Xp, including SHOX (short stature homeobox-containing gene), and deletion of most of Xq...
  35. doi Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy
    Anne Marie Ottesen
    University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
    Am J Med Genet A 152:1206-12. 2010
    ..It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies...
  36. ncbi Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion
    Nadja Kokalj-Vokac
    Medical Genetics Laboratory, Maribor Teaching Hospital, Ljubljanska 5, 2000, Maribor, Slovenia
    Eur J Pediatr 163:658-63. 2004
    ..The proband's phenotype corresponds to descriptions of contiguous gene syndromes due to deletion of the STS, SHOX, ARSE and KAL genes. Despite the loss of the ARSE gene there was no evidence of chondrodysplasia punctata...
  37. ncbi Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial
    Werner F Blum
    Lilly Research Laboratories, Eli Lilly and Company, Saalburgstrasse 153, D 61350 Bad Homburg, Germany
    J Clin Endocrinol Metab 92:219-28. 2007
    The short stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth...
  38. ncbi Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)
    T Reinehr
    Vestische Kinderklinik, University of Witten Herdecke, Datteln, Germany
    Am J Med Genet 102:81-5. 2001
    Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Léri-Weill syndrome...
  39. ncbi Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3
    S Spranger
    Center for Human Genetics and Genetic Counseling, University of Bremen, Germany
    Am J Med Genet 83:367-71. 1999
    ..The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia punctata (ARSE), and mental retardation (putative mental retardation gene MRX 49)...
  40. ncbi Gene expression analysis reveals that formation of the mouse anterior secondary palate involves recruitment of cells from the posterior side
    Qun Li
    Department of Molecular, Cellular and Craniofacial Biology and Birth Defects Center, University of Louisville, KY 40202, USA
    Int J Dev Biol 51:167-72. 2007
    ..Previous studies have shown that at the molecular level, the anterior palate can be defined by the expression of Shox-2 and the posterior palate by Meox-2 expression in certain mouse strains...
  41. ncbi Incidence of postoperative infections in patients undergoing coronary artery bypass grafting surgery receiving antimicrobial prophylaxis with original and generic cefuroxime
    Ekaterini Mastoraki
    Department of Surgical Intensive Care Unit, Onassis Cardiac Surgery Center, 356 Sygrou Ave, 17674 Athens, Greece
    J Infect 56:35-9. 2008
    ..was to compare the incidence of post-operative infections in patients undergoing coronary artery bypass grafting (CABG) surgery who received generic cefuroxime (gCFX) instead of original cefuroxime (oCFX) as antimicrobial prophylaxis.
  42. pmc SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
    R J Blaschke
    Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    Proc Natl Acad Sci U S A 95:2406-11. 1998
    Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome...
  43. pmc Pseudoautosomal linkage of Hodgkin disease
    M Horwitz
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
    Am J Hum Genet 65:1413-22. 1999
    ..The gene responsible for LWD, SHOX, localizes to the short-arm pseudoautosomal region (PAR) of the X and Y chromosomes...
  44. ncbi A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family
    B Karaman
    Istanbul University, Institute of Child Health, Division of Medical Genetics, Istanbul, Turkey
    Prenat Diagn 23:336-9. 2003
    The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype...
  45. pmc Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton
    Ling Yu
    Department of Cell and Molecular Biology, Tulane University, New Orleans, LA 70117, USA
    Dev Biol 306:549-59. 2007
    Mutations in the short stature homeobox gene SHOX lead to growth retardation associated with Turner, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia syndromes, which marked the shortening of the forearms and lower legs...
  46. ncbi Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure
    Gerard Tachdjian
    Service de Biologie et Génétique de la Reproduction, INSERM U782, Université Paris 11, Hopital A Beclere, Clamart, France
    Hum Reprod 23:222-6. 2008
    ..In order to look for potentially cryptic chromosomal imbalance, we used high-resolution genomic analysis to characterize X chromosome deletions associated with POF...
  47. doi Shox2 function couples neural, muscular and skeletal development in the proximal forelimb
    Lori Vickerman
    Department of Biological Sciences, University of Calgary, Calgary, AB, Canada
    Dev Biol 350:323-36. 2011
    ..Shox2 is also of special interest because it is closely related to the human SHOX gene, deficiencies of which cause the short stature in Turner, Langer and Léri-Weill syndromes...
  48. pmc Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions
    Carolina J Jorgez
    Scott Department of Urology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Endocrinol Metab 96:E674-9. 2011
    ..The pseudoautosomal regions (PARs) of the Y-chromosome undergo meiotic recombination with the X-chromosome. PAR mutations are associated with infertility and mental and stature disorders...
  49. pmc SHOX haploinsufficiency and overdosage: impact of gonadal function status
    T Ogata
    Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    J Med Genet 38:1-6. 2001
    Since its discovery in 1997, knowledge about the SHOX gene has rapidly increased. In this review, we summarise clinical features and diagnostic and therapeutic implications in SHOX haploinsufficiency and overdosage...
  50. doi Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 146:2944-9. 2008
    ..The latter two abnormalities have so far not been reported in terminal Xp deletions. MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed that the patient had an 8...
  51. ncbi [Low height and rare diseases]
    Mj Chueca Guindulain
    Servicio de Pediatria, Hospital Virgen del Camino, Pamplona, 31008, Spain
    An Sist Sanit Navar 31:31-53. 2008
    ..The frequent osseous dysplasias, in some cases with genetic alterations of the SHOX gene, situated in the short arm of the Xp chromosome...
  52. pmc Role of transcription factor CaNdt80p in cell separation, hyphal growth, and virulence in Candida albicans
    Adnane Sellam
    Biotechnology Research Institute, National Research Council of Canada, Montreal, Quebec, Canada
    Eukaryot Cell 9:634-44. 2010
    The NDT80/PhoG transcription factor family includes ScNdt80p, a key modulator of the progression of meiotic division in Saccharomyces cerevisiae...
  53. ncbi Leg length, proportion, health and beauty: a review
    Barry Bogin
    Health and Lifespan Research Centre, School of Sport, Exercise and Health Sciences, Loughborough University, Loughborough, Leicestershire, UK
    Anthropol Anz 67:439-59. 2009
    ..The short stature homeobox-containing gene (SHOX) is the first genomic region that may be relevant to human body proportions...
  54. ncbi Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Med Genet A 116:61-5. 2003
    ..The patient with hypochondroplasia had a heterozygous SHOX deletion; no SHOX mutation was identified in the child with achondroplasia...
  55. ncbi Reliability of speaking and maximum voice range measures in screening for dysphonia
    Estella Ma
    Voice Research Laboratory and Centre of Communication Disorders, Division of Speech and Hearing Sciences, The University of Hong Kong, Hong Kong, China
    J Voice 21:397-406. 2007
    ..All the recordings were captured and analyzed by Soundswell's computerized real-time phonetogram Phog 1.0 (Hitech Development AB, Täby, Sweden). The SRPs and the VRPs were compared between the two groups of subjects...
  56. pmc Leg length, body proportion, and health: a review with a note on beauty
    Barry Bogin
    Health and Lifespan Research Centre, School of Sport, Exercise and Health Sciences, Loughborough University, Loughborough, Leicestershire LE11 3TU, UK
    Int J Environ Res Public Health 7:1047-75. 2010
    ..The HOXd and the short stature homeobox-containing gene (SHOX) are genomic regions that may be relevant to human body proportions...
  57. ncbi A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
    Kym M Boycott
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 122:139-47. 2003
    ..33. The two boys were shown to be deleted for the SHOX and ARSE genes on their X chromosome...
  58. doi Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome
    Franz Binkert
    MCL Medical Laboratories, Bern, Switzerland
    Fertil Steril 94:350.e12-5. 2010
    ..To describe the parental origin and the mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)[23]/45,X[8] karyotype in a patient with mild Turner syndrome...
  59. ncbi Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
    Gerhard Binder
    University Children s Hospital, 72076 Tubingen, Germany
    J Clin Endocrinol Metab 88:4891-6. 2003
    b>SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis...
  60. ncbi Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements
    Eva Tiecke
    Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, UK
    Dev Biol 298:585-96. 2006
    b>SHOX is a homeobox-containing gene, highly conserved among species as diverse as fish, chicken and humans...
  61. doi Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
    N Simon Thomas
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Am J Med Genet A 149:1407-14. 2009
    Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities...
  62. doi Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks
    Orit Reish
    Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel
    Am J Med Genet A 152:2230-5. 2010
    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...
  63. ncbi Sequence and structure of Penicillium chrysogenum phoG, homologous to an acid phosphatase-encoding gene of Aspergillus nidulans
    F Marx
    Institut für Mikrobiologie Medizinische Fakultät, Universitat Innsbruck, Austria
    Gene 160:137-8. 1995
    A Penicillium chrysogenum (Pc) gene (phoG), homologous to an Aspergillus nidulans (An) gene which confers phosphate-non-repressible acid phosphatase (APase) activity, has been cloned and sequenced. The 2...
  64. ncbi Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
    K A Adamson
    School of Clinical Medical Sciences, The Medical School, University of Newcastle, Newcastle NE2 4HH, UK
    Clin Endocrinol (Oxf) 56:671-5. 2002
    ..Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp)...
  65. ncbi Evidence that postnatal growth retardation in XO mice is due to haploinsufficiency for a non-PAR X gene
    P S Burgoyne
    Division of Developmental Genetics, MRC National Institute for Medical Research, London, UK
    Cytogenet Genome Res 99:252-6. 2002
    ..and this is now thought to be largely a consequence of haploinsufficiency for the pseudoautosomal region (PAR) gene SHOX. X(p)O mice (with a paternal X) are developmentally retarded in fetal life, are underweight at birth, and show ..
  66. ncbi Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function
    Maki Fukami
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    Eur J Endocrinol 149:337-41. 2003
    To report on auxological data in the combination of SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function.
  67. ncbi An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
    Michael J Doherty
    Swedish Epilepsy Center, University of Washington, Seattle, Washington, U S A
    Epilepsia 44:1529-35. 2003
    ....
  68. ncbi Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history
    Ravi Savarirayan
    Genetic Health Services Victoria and Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet A 124:148-57. 2004
    ..All patients had recurrent patella dislocation. Sterol and very long chain fatty acid profiles, FISH analysis for SHOX gene deletions, blood lymphocyte karyotype, and phytanic acid levels were normal in those tested, and no mutations ..
  69. ncbi Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes
    Christina Kanaka-Gantenbein
    First Department of Pediatrics, Aghia Sophia Children s Hospital, University of Athens, Athens, Greece
    Horm Res 61:205-10. 2004
    ..To describe the tall stature and its possible underlying mechanism in a Caucasian girl (age 12 years and 10 months) with 46,XX (28%)/47,XXX (72%) mosaicism and to identify the parental origin of her extra X chromosome...
  70. ncbi SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity
    Gerhard Binder
    Section of Pediatric Endocrinology, University Children s Hospital, Hoppe Seyler Strasse 1, 72076 Tubingen, Germany
    J Clin Endocrinol Metab 89:4403-8. 2004
    b>SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists...
  71. ncbi Bioethics, bridge to medical education
    V Mele
    Catholic University of the Sacred Heart, Roma, Italy
    J Biol Regul Homeost Agents 19:49-53. 2005
    ..OBJECTIVES AND DIFFICULTIES: The knowledge that features the transition from a PHOG approach in teaching: prejudice, hunches, opinions, guess to an evidence-based education is not easy to collect, to ..
  72. ncbi Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay
    Valentina Gatta
    Department of Biomedical Sciences and Aging Research Center, Ce S I, G d Annunzio University Foundation, Via dei Vestini 35, Chieti Pescara, 66013, Italy
    J Hum Genet 52:21-7. 2007
    Deletions of the SHOX gene (Xp22-Yp11.3) are associated with Leri-Weill dyschondrosteosys (LWD) and idiopathic short stature...
  73. ncbi Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage
    Mirian Yumie Nishi
    Hospital das Clinicas, Universidade de Sao Paulo, SP, Brasil
    Arq Bras Endocrinol Metabol 52:1282-7. 2008
    b>SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion...
  74. doi Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype
    Wietske A Ester
    Department of Pediatrics, Subdivision of Endocrinology, Erasmus Medical Center Sophia Children s Hospital, 3015 GE Rotterdam, The Netherlands
    J Clin Endocrinol Metab 94:4717-27. 2009
    ..Small for gestational age (SGA)-born children comprise a heterogeneous group in which only few genetic causes have been identified...
  75. doi Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)
    Tsuguhiro Horikoshi
    Department of Obstetrics, Center for Perinatal Medicine, Nagano Children s Hospital, Azumino, Nagano, Japan
    J Obstet Gynaecol Res 36:671-5. 2010
    ..The genomic copy number analysis demonstrated terminal deletion of 8.33 Mb that included SHOX, CSF2RA, XG, ARSE, NLGN4 and STS genes...
  76. doi Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation
    A Takeda
    Southampton Health Technology Assessments Centre, Southampton, UK
    Health Technol Assess 14:1-209, iii-iv. 2010
    ..with growth hormone deficiency (GHD), Turner syndrome (TS), Prader-Willi syndrome (PWS), chronic renal insufficiency (CRI), short stature homeobox-containing gene deficiency (SHOX-D) and being born small for gestational age (SGA).
  77. ncbi The SHOX region and its mutations
    L Capone
    Genomic Research Center, Cante di Montevecchio Association ONLUS, Fano, PU, Italy
    J Endocrinol Invest 33:11-4. 2010
    The short stature homeobox-containing (SHOX) gene lies in the pseudoautosomal region 1 (PAR1) that comprises 2.6 Mb of the short-arm tips of both the X and Y chromosomes...
  78. ncbi Auxological and anthropometric evaluation in skeletal dysplasias
    L Mazzanti
    Rare Disease, Syndromology and Auxology Unit, Department of Pediatrics, S Orsola Malpighi Hospital, University of Bologna, Via Massarenti 11, 40138 Bologna, Italy
    J Endocrinol Invest 33:19-25. 2010
    ..Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short ..
  79. pmc Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos
    Emma J Kenyon
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, Cambridgeshire, United Kingdom
    PLoS ONE 6:e21498. 2011
    Mutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic limb shortening...
  80. doi Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius
    O Soucek
    Department of Pediatrics, Second Faculty ofMedicine, Charles University in Prague and University Hospital Motol, 15006 Prague 5, Czech Republic
    J Clin Endocrinol Metab 98:E1241-7. 2013
    The low bone mineral density (BMD) and alterations in bone geometry observed in patients with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene.
  81. pmc Replacing Shox2 with human SHOX leads to congenital disc degeneration of the temporomandibular joint in mice
    Xihai Li
    Academy of Integrative Medicine, Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian, 350122, People s Republic of China
    Cell Tissue Res 355:345-54. 2014
    ..chondyle, leads to dysplasia and ankylosis of the TMJ and that replacement of the mouse Shox2 with the human SHOX gene rescues the dysplastic and ankylosis phenotypes but results in a prematurely worn out articular disc...
  82. doi Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome
    Y X Cui
    Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China
    Andrologia 47:477-81. 2015
    ..32) (Yqter→Yp11.32::Yp11.32→Yqter).ish (DYZ3++, SRY++, SHOX-). array (PLCXD1→SHOX) ×1,(SRY →GOLGA2P3Y)×2, (DHRSX→ ASMT, SPRY3 →IL9R)×3...
  83. pmc Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb
    Stanley J Neufeld
    Department of Biological Sciences, University of Calgary, Calgary, Alberta T2N 1N4, Canada
    Genetics 198:1117-26. 2014
    The growth and development of the vertebrate limb relies on homeobox genes of the Hox and Shox families, with their independent mutation often giving dose-dependent effects...
  84. doi Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment
    Christopher J Child
    Lilly Research Laboratories, Eli Lilly and Company, Windlesham, UK
    Horm Res Paediatr 84:14-25. 2015
    The short stature homeobox-containing (SHOX) gene is one of many genes that regulate longitudinal growth...
  85. pmc Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
    Hannah Verdin
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Sci Rep 5:17667. 2015
    ..An example of this is the short stature homeobox (SHOX) gene, regulated by seven CNEs located downstream and upstream of SHOX, with proven enhancer capacity in chicken ..
  86. doi Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
    Hirohito Shima
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
    J Hum Genet 61:585-91. 2016
    ..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 ..
  87. pmc Expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritis‑like disease of the temporomandibular joint in postnatal mice
    Wenna Liang
    Research Base of Traditional Chinese Medicine Syndrome, Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian 350122, P R China
    Mol Med Rep 14:3676-82. 2016
    ..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. ..
  88. doi 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
    Sara Benito-Sanz
    Institute of Medical and Molecular Genetics INGEMM, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
    J Hum Genet 62:229-234. 2017
    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...
  89. ncbi SHOX: a geneticist's view
    Gudrun Rappold
    J Clin Endocrinol Metab 87:1911-2; author reply 1912. 2002
  90. ncbi Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21
    V Nataf
    Service d Histologie Embryologie Génétique Biologie de la Reproduction, centre hospitalier intercommunal Poissy Saint Germain en Laye, 10 rue du Champ Gaillard, 78303 Poissy Cedex, France
    Prenat Diagn 22:675-80. 2002
    ..The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21...
  91. pmc SHOX mutations detected by FISH and direct sequencing in patients with short stature
    L Stuppia
    J Med Genet 40:E11. 2003
  92. ncbi Research in medical education, a challenge to enhance the quality of education and care
    Paola Binetti
    Department of Education and Teaching, Università Campus Bio Medico, Roma
    Rays 29:83-99. 2004
    ..Knowledge characteristic of the transition from a PHOG approach, that is, based on prejudice, hunches, opinions, guess, to evidence-based education is not easy to collect,..
  93. pmc A second recombination hotspot associated with SHOX deletions
    Andrew R Zinn
    Am J Hum Genet 78:523-5. 2006
  94. ncbi Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family
    Kosuke Izumi
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet A 143:2838-42. 2007
  95. doi Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions
    Jessica M Rosin
    Department of Biological Sciences, 2500 University Drive N W University of Calgary, Calgary AB T2N 1N4, Canada
    Hum Mol Genet 22:3063-76. 2013
    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)...
  96. doi De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis
    Julie Auger
    Laboratoire de Genetique Medicale, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France Service de Médecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France
    Am J Med Genet A 161:2594-9. 2013
    ..Short stature homeobox (SHOX) haploinsufficiency explains growth retardation...
  97. doi Y-chromosome microdeletions are not associated with SHOX haploinsufficiency
    C Chianese
    Andrology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50139, Italy
    Hum Reprod 28:3155-60. 2013
    Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents?
  98. ncbi A short history of the initial discovery of the SHOX gene
    S Bernasconi
    Department of Pediatrics, University of Parma, Parma, Italy
    J Endocrinol Invest 33:3-6. 2010
    ..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...
  99. ncbi Different approaches in the molecular analysis of the SHOX gene dysfunctions
    L Stuppia
    Department of Biomedical Sciences, G D Annunzio University, Chieti Pescara, Italy
    J Endocrinol Invest 33:30-3. 2010
    Deficit of the short stature homeobox containing gene (SHOX) accounts for 2.15% of cases of idiopathic short stature (ISS) and 50-100% of cases of Leri-Weill dyschondrosteosis (LWD)...
  100. doi The role of Shox2 in SAN development and function
    Hongbing Liu
    Department of Cell and Molecular Biology, Tulane University, New Orleans, LA 70118, USA
    Pediatr Cardiol 33:882-9. 2012
    ..Mutations in the short-stature homeobox gene (SHOX) is associated with idiopathic short stature in humans, as observed in patients with Turner syndrome and/or Leri-..
  101. doi New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia
    Sang Heon Song
    Department of Orthopaedic Surgery, Institute for Rare Diseases, Korea University Medical Center Guro Hospital, Guro Gu, Seoul, Korea
    Am J Med Genet A 158:2456-62. 2012
    ..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...

Research Grants8

  1. Shox2 and temporomandibular joint formation
    YiPing Chen; Fiscal Year: 2013
    ..In the last aim, we will test if human SHOX and SHOX2 are functionally redundant in embryonic development through targeted insertion of the human SHOX gene ..
  2. GENETICS OF COGNITION IN ADULT TURNER SYNDROME
    Judith Ross; Fiscal Year: 2005
    ..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
  3. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2007
    ..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
  4. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith L Ross; Fiscal Year: 2010
    ..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
  5. REGULATORY MECHANISMS OF GROWTH-PLATE CHONDROCYTES
    Robert Olney; Fiscal Year: 2002
    ..Conversely, by identifying the important regulators of the human growth-plate, we will provide clues to direct the search for the genes responsible for some of the osteochondrodysplasias. ..
  6. Transgenic Zebrafish as Models for Tooth Morphogenesis
    William Jackman; Fiscal Year: 2005
    ..These studies will reveal cell behavior during normal and experimentally perturbed tooth morphogenesis at a level of detail never before described. ..
  7. Genetics of Turner Syndrome Neurocognitive Phenotype
    Andrew Zinn; Fiscal Year: 2006
    ..This same interval has been previously shown to contain a gene termed SHOX, deletions or mutations of which cause short stature and other TS skeletal abnormalities...
  8. Mistargeting of Elastase in Bone Marrow Failure
    Marshall Horwitz; Fiscal Year: 2008
    ..1 Determine if ELA2 promoter variation contributes to neutropenia; 3.2 Measure the frequency of the ELA2 C-199A allele in individuals of African descent with benign ethnic neutropenia; 3.3 Identify new neutropenia genes. ..