Gudrun A Rappold

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. pmc Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids
    Julia Schmidt
    Institute of Human Genetics, University of Freiburg, Freiburg, Germany
    PLoS ONE 4:e5288. 2009
  2. 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
  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. pmc Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, INF 366, 69120 Heidelberg, Germany
    BMC Med Genet 6:20. 2005
  5. 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
  6. ncbi Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E
    Beate Niesler
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120, Heidelberg, Germany
    Gene 310:101-11. 2003
  7. 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
  8. ncbi Height matters-from monogenic disorders to normal variation
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Nat Rev Endocrinol 9:171-7. 2013
  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. ncbi The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions
    Stefan Kirsch
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Pediatr Endocrinol Metab 15:1295-300. 2002

Collaborators

Detail Information

Publications21

  1. pmc Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids
    Julia Schmidt
    Institute of Human Genetics, University of Freiburg, Freiburg, Germany
    PLoS ONE 4:e5288. 2009
    ....
  2. 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
    ..As Hoxa9 and Shox are both expressed in overlapping regions of the developing limb buds, a regulatory relationship of Hoxa9 and Shox during the process of limb development can be assumed...
  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
    ..In conclusion, SHOX expression is regulated by different mechanisms and alternative splicing coupled with nonsense-mediated RNA decay constitutes a further component that can be used to fine tune the SHOX expression level...
  4. pmc Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, INF 366, 69120 Heidelberg, Germany
    BMC Med Genet 6:20. 2005
    ..TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period...
  5. 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
    ....
  6. ncbi Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E
    Beate Niesler
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120, Heidelberg, Germany
    Gene 310:101-11. 2003
    ....
  7. 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
    ..This study provides the first insight into the biological function of SHOX as regulator of cellular proliferation and viability and relates these cellular events to the phenotypic consequences of SHOX deficiency...
  8. ncbi Height matters-from monogenic disorders to normal variation
    Claudia Durand
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Nat Rev Endocrinol 9:171-7. 2013
    ....
  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
    ..In conclusion, our data support a model where functional SHOX protein levels are regulated by a combination of transcriptional and translational control mechanisms...
  10. ncbi The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions
    Stefan Kirsch
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Pediatr Endocrinol Metab 15:1295-300. 2002
    ..No functional gene has been identified in this region...
  11. ncbi Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    Simone Berkel
    Department of Molecular Human Genetics, Ruprecht Karls University, Heidelberg, Germany
    Nat Genet 42:489-91. 2010
    ..Our findings further link common genes between ASD and intellectual disability...
  12. doi The cellular function of srGAP3 and its role in neuronal morphogenesis
    Claire Bacon
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Mech Dev 130:391-5. 2013
    ..Thus, srGAP3-mediated cytoskeletal reorganisation has an important influence on a variety of neurodevelopmental processes, which may be required for normal cognitive function...
  13. pmc The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation
    Volker Endris
    Institut fur Humangenetik, Universitat Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    Proc Natl Acad Sci U S A 99:11754-9. 2002
    ..We propose that haploinsufficiency of MEGAP/srGAP3 leads to the abnormal development of neuronal structures that are important for normal cognitive function...
  14. ncbi The human SHOX mutation database
    Beate Niesler
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 20:338-41. 2002
    ..2002]. The database is accessible via the website www.shox.uni-hd.de. It contains general information about the SHOX gene, and allows remote users to search the data and to submit new mutations to the database...
  15. pmc Identification of novel SHOX target genes in the developing limb using a transgenic mouse model
    Katja U Beiser
    Department of Human Molecular Genetics, Heidelberg University Hospital, Heidelberg, Germany
    PLoS ONE 9:e98543. 2014
    ..This finding was confirmed in human NHDF and U2OS cells and chicken micromass culture, demonstrating the value of the SHOX-transgenic mouse for the characterization of SHOX-dependent genes and pathways in early limb development. ..
  16. pmc The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders
    Claire Bacon
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Hum Genet 131:1687-98. 2012
    ....
  17. ncbi All shook up by SHOX deficiency
    Gudrun A Rappold
    J Pediatr 147:422-4. 2005
  18. ncbi Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma
    Deborah J Shears
    Br J Haematol 121:377-9. 2003
  19. ncbi Congenital conductive hearing loss in dyschondrosteosis
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Center St Radboud, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 112:153-8. 2003
    ..In our patient, exploratory tympanotomy revealed ankylosis of the stapes and a malformed incus. A substantial gain in hearing threshold was obtained by a stapedectomy in combination with a malleovestibulopexy...
  20. 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 findings are also relevant to observations made of "complete" ring chromosomes...
  21. ncbi Direct evidence for the Homo-Pan clade
    Rainer Wimmer
    Institute of Human Genetics and Anthropology, University of Freiburg, Germany
    Chromosome Res 10:55-61. 2002
    ..Thus, this shared derived (synapomorphic) trait provides clear evidence for a Homo-Pan clade independent of DNA sequence analysis...