SHOX

Summary

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

Top Publications

  1. ncbi Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 99:196-9. 2001
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  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

Publications158 found, 100 shown here

  1. ncbi Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
    S Uehara
    Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 99:196-9. 2001
    ..FISH analyses of her structurally altered X chromosome showed a der(X)- (wcpX+,TelXp/Yp++,SHOX++,STS++,KAL-, 37A12-,DXZ1+,XIST++,97L7++,300O13-,404F- 18-,417G15-,404F18-,140A-,TelXq/Yq-)...
  2. 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...
  3. 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 ..
  4. 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...
  5. 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...
  6. 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 ..
  7. 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 ..
  8. 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 ..
  9. 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 ..
  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. 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 ..
  12. 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...
  13. 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, ..
  14. 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...
  15. 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 ..
  16. 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.
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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 ..
  24. 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 ..
  25. 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 ..
  26. 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
    ..LWD), a mesomelic short stature syndrome with Madelung deformity, was recently reported to be caused by SHOX (short stature homeobox-containing gene) haploinsufficiency. The loss of SHOX on Xp22...
  27. 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 ..
  28. 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...
  29. 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).
  30. 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...
  31. 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
    ....
  32. 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...
  33. 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...
  34. 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...
  35. 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 ..
  36. 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...
  37. 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)...
  38. 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...
  39. 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.
  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 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 ..
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  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 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  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. 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...
  64. 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...
  65. 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...
  66. 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?
  67. pmc A second recombination hotspot associated with SHOX deletions
    Andrew R Zinn
    Am J Hum Genet 78:523-5. 2006
  68. 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)...
  69. 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
  70. 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...
  71. 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,..
  72. 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...
  73. ncbi SHOX: a geneticist's view
    Gudrun Rappold
    J Clin Endocrinol Metab 87:1911-2; author reply 1912. 2002
  74. pmc SHOX mutations detected by FISH and direct sequencing in patients with short stature
    L Stuppia
    J Med Genet 40:E11. 2003
  75. doi Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy
    Lorenzo Iughetti
    Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy
    Horm Res Paediatr 78:279-87. 2012
    Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency...
  76. pmc The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    PLoS ONE 7:e45369. 2012
    The homeobox gene SHOX encodes for a transcription factor that plays an important role during limb development...
  77. 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...
  78. 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-..
  79. 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...
  80. 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)...
  81. doi Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency
    O Soucek
    Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    Exp Clin Endocrinol Diabetes 121:109-14. 2013
    The short stature homeobox-containing gene (SHOX) plays an important role in bone development and growth...
  82. doi Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
    C Evers
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    Clin Genet 79:489-94. 2011
    The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes...
  83. pmc The Human Pseudoautosomal Region (PAR): Origin, Function and Future
    A Helena Mangs
    Basic and Clinical Genomics Laboratory, School of Medical Sciences and Bosch Institute, The University of Sydney, NSW 2006, Australia
    Curr Genomics 8:129-36. 2007
    ..Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1...
  84. ncbi Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
    G Grigelioniene
    Paediatric Endocrinology Unit, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 109:551-8. 2001
    ..Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO...
  85. doi Turner syndrome and clinical treatment
    Britta E Hjerrild
    Medical Department M Endocrinology and Diabetes, Arhus Kommunehospital, DK 8000 Aarhus C, Denmark
    Br Med Bull 86:77-93. 2008
    ..The average intellectual performance is within the normal range. New insight into genetics, epidemiology, cardiology, endocrinology and metabolism from a number of recent studies will be included in this review...
  86. doi Current indications for growth hormone therapy for children and adolescents
    Erick Richmond
    Pediatric Endocrinology, National Children s Hospital, San Jose, Costa Rica
    Endocr Dev 18:92-108. 2010
    ..age with failure to catch up to the normal height percentiles, Prader-Willi syndrome, idiopathic short stature, SHOX gene haploinsufficiency and Noonan syndrome (current to October 2008)...
  87. doi Zirconium oxide regulates RNA interfering of osteoblast-like cells
    Annalisa Palmieri
    Institute of Histology, University of Bologna and Center of Molecular Genetics, CARISBO Foundation, Bologna, Italy
    J Mater Sci Mater Med 19:2471-6. 2008
    ..The most notable regulated genes acting on osteoblasts are: NOG, SHOX, IGF1, BMP1 and FGFR1...
  88. ncbi SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Growth Horm IGF Res 9:53-7; discussion 57-8. 1999
    ..Recently, Rao et al. have identified a novel homeobox containing gene, SHOX (short stature homeobox containing gene), from the distal part of PAR1, by means of a positional cloning method...
  89. ncbi A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse
    E V Semina
    Departments of Pediatrics and Biological Sciences, The University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 7:415-22. 1998
    ..gene was identified, exhibiting the most homology to murine Og12x (formerly OG12) and the recently reported human SHOX gene. Human OG12X and murine Og12x are highly homologous and the OG12X and Og12x proteins are 100% identical...
  90. ncbi Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX
    Celia A May
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Nat Genet 31:272-5. 2002
    ..pattern also applies to PAR1, we have examined linkage disequilibrium over an interval of 43 kb around the gene SHOX. Here we show that in northern European populations, disequilibrium decays rapidly with physical distance, which is ..
  91. ncbi Phenotypes Associated with SHOX Deficiency
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 86:5674-80. 2001
    ..LWD can now be defined genetically by haploinsufficiency of the SHOX (short stature homeobox-containing) gene...
  92. ncbi FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    Am J Med Genet 104:307-11. 2001
    ..normal stature in the two mosaic cases with the der(X)(ptel++) chromosomes that were shown to be associated with SHOX duplication...
  93. ncbi Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis
    G Palka
    Dipartimento di Scienze Biomediche, Universita G D Annunzio, Chieti, Italy
    Clin Genet 57:449-53. 2000
    ..In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene...
  94. ncbi Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Am J Med Genet 92:256-9. 2000
    ..Y chromosome was accompanied by: 1) a partial deletion of the short arm pseudoautosomal region (PAR1) involving SHOX, with the breakpoint distal to DXYS85; and 2) a partial duplication of Yq, with the breakpoint proximal to DAZ...
  95. doi Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome
    Andreas Poplinski
    Centre of Reproductive Medicine and Andrology, University Clinics Münster, Munster, Germany
    Eur J Endocrinol 162:169-75. 2010
    ..We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome...
  96. doi Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia
    Bina C Shah
    Department of Pediatric Endocrinology, New York University Medical Center, 550 First Avenue, New York, New York 10016, USA
    J Clin Endocrinol Metab 94:5028-33. 2009
    Homozygous mutation of the short stature homeobox-containing gene, SHOX, results in Langer mesomelic dysplasia (LMD)...
  97. ncbi SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features
    Tsutomu Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 87:1390-4. 2002
    We report on clinical and molecular findings in a Japanese family consisting of a male infant with SHOX nullizygosity and his four family members with SHOX haploinsufficiency...
  98. ncbi Molecular characterization of a ring X chromosome in a male with short stature
    Jay W Ellison
    Department of Medical Genetics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Hum Genet 110:322-6. 2002
    ..The total amount of deleted material is 700-900 kb DNA and includes six known transcribed genes. Interestingly, SHOX, a gene implicated in short stature, is not deleted from the ring chromosome...
  99. ncbi Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling
    D Baralle
    Medical Genetics Department, Addenbrooke s Hospital, Cambridge, United Kingdom
    Am J Med Genet 95:391-5. 2000
    ..The phenotype is consistent with the observed deletion of the SHOX gene by FISH and molecular studies...
  100. ncbi [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]
    Alexander A L Jorge
    Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM 42, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil
    Arq Bras Endocrinol Metabol 52:765-73. 2008
    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...
  101. pmc SHOX point mutations in dyschondrosteosis
    C Huber
    J Med Genet 38:323. 2001

Research Grants69

  1. MEDICAL GENETICS POSTDOCTORAL FELLOWSHIP
    Marshall Horwitz; Fiscal Year: 2007
    ..As they progress, trainees are encouraged to seek individual fellowship awards. The Program continues in its successful mission of launching independent, research-focused careers in medical genetics. ..
  2. Shox2 and temporomandibular joint formation
    YiPing Chen; Fiscal Year: 2010
    ..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 ..
  3. Androgen effect on brain structure/function in Klinefelter syndrome
    Judith Ross; Fiscal Year: 2009
    ..We aim to link the structural and functional neuroimaging findings of androgen deficiency and replacement in KS, in order to expand our understanding of mechanisms underlying androgen impact on cognition. ..
  4. 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. ..
  5. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2003
    ..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. ..
  6. 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. ..
  7. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith Ross; Fiscal Year: 2007
    ..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
  8. 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. ..
  9. 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. ..
  10. Molecular Genetic Basic of Cyclic Hematopiesis
    Marshall Horwitz; Fiscal Year: 2007
    ..3. Evaluate the genes encoding nodal points of the proposed feedback circuit as candidates for unaccounted cases of neutropenia. ..
  11. Sim1 Function in Feeding Regulation
    Andrew R Zinn; Fiscal Year: 2010
    ..The proposed project will delineate molecular mechanisms within the brain that regulate food intake. ..
  12. Mistargeting of Elastase in Bone Marrow Failure
    Marshall Horwitz; Fiscal Year: 2007
    ..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. ..
  13. Genomic Fate Maps
    Marshall S Horwitz; Fiscal Year: 2010
    ..We will initially focus our studies on how the liver develops and responds to injury. ..
  14. Genomic Fate Maps
    Marshall S Horwitz; Fiscal Year: 2010
    ..We will initially focus our studies on how the liver develops and responds to injury. ..
  15. Molecular Genetic Basic of Cyclic Hematopiesis
    Marshall S Horwitz; Fiscal Year: 2010
    ..3. Evaluate the genes encoding nodal points of the proposed feedback circuit as candidates for unaccounted cases of neutropenia. ..
  16. Sim1 Function in Feeding Regulation
    Andrew R Zinn; Fiscal Year: 2010
    ..The proposed project will delineate molecular mechanisms within the brain that regulate food intake. ..
  17. 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...
  18. 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. ..
  19. MOLECULAR GENETIC BASIS OF CYCLIC HEMATOPOIESIS
    Marshall Horwitz; Fiscal Year: 2006
    ..The broad, long-term objective is to understand the 21 day biological clock of the bone marrow, whose cycle is made evident in this disease. ..
  20. GENETICS OF TURNER SYNDROME--COGNITIVE/PHYSICAL ASPECTS
    Andrew Zinn; Fiscal Year: 2001
    ..Characterization of these genes would provide insight into the pathophysiology of Turner syndrome as well as processes of normal physical and cognitive development. ..