Gudrun Rappold

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome
    Beate Niesler
    Psychiatr Genet 15:303-4. 2005
  2. ncbi The novel human SHOX allelic variant database
    Beate Niesler
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 28:933-8. 2007
  3. 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
  4. ncbi New roles of SHOX as regulator of target genes
    G A Rappold
    Institute of Human Genetics, Department of Human Molecular Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    Pediatr Endocrinol Rev 9:733-8. 2012
  5. 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
  6. 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
  7. 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
  8. ncbi Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis
    Katja U Schneider
    Department of Molecular Human Genetics, University of Heidelberg, Germany
    Hum Mutat 26:44-52. 2005
  9. pmc Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia
    Sandra Hoffmann
    Department of Human Molecular Genetics, Institute of Human Genetics, University Heidelberg, INF 366, 69120 Heidelberg, Germany
    Basic Res Cardiol 108:339. 2013
  10. 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

Detail Information

Publications46

  1. ncbi Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome
    Beate Niesler
    Psychiatr Genet 15:303-4. 2005
    ..Statistical analysis rated all variants as probably non-disease-related polymorphisms. Yet a certain effect of the detected variants on the severity of the disease cannot be excluded...
  2. ncbi The novel human SHOX allelic variant database
    Beate Niesler
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 28:933-8. 2007
    ..Furthermore, it includes general information about the SHOX gene via links to other resources such as MIM, GDB, HGMD, and HAPMAP, as well as websites of Short Stature Associations...
  3. 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
    ..Thus, we speculate that SHOX upstream deletions occur at a lower frequency because of the structural organization of this genomic region and/or that SHOX upstream deletions may cause a phenotype that differs from the one observed in LWD...
  4. ncbi New roles of SHOX as regulator of target genes
    G A Rappold
    Institute of Human Genetics, Department of Human Molecular Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    Pediatr Endocrinol Rev 9:733-8. 2012
    ..g. achondroplasia) and SHOX defects (e.g. Léri-Weill dyschondrosteosis)...
  5. 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
    ....
  6. 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
    ....
  7. 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
    ....
  8. ncbi Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis
    Katja U Schneider
    Department of Molecular Human Genetics, University of Heidelberg, Germany
    Hum Mutat 26:44-52. 2005
    ..Thus, we demonstrate that single missense mutations in the homeodomain fundamentally impair SHOX key functions, thereby leading to the phenotype observed in patients with LWD and ISS...
  9. pmc Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia
    Sandra Hoffmann
    Department of Human Molecular Genetics, Institute of Human Genetics, University Heidelberg, INF 366, 69120 Heidelberg, Germany
    Basic Res Cardiol 108:339. 2013
    ..Our findings demonstrate a novel epistatic relationship between Shox2 and Isl1 in the heart with important developmental consequences for SAN formation and heart beat...
  10. 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...
  11. pmc RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits
    Jutta Walstab
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    J Biol Chem 285:26956-65. 2010
    ..These data implicate a possible role of RIC-3 in determining 5-HT(3) receptor composition in vivo...
  12. pmc Identification of a major recombination hotspot in patients with short stature and SHOX deficiency
    Katja U Schneider
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Am J Hum Genet 77:89-96. 2005
    ..We propose that the sequence present within this proximal deletion breakpoint "hotspot" region predisposes to recurrent breaks...
  13. 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...
  14. doi FGFR3 is a target of the homeobox transcription factor SHOX in limb development
    Eva Decker
    Department of Human Molecular Genetics, University of Heidelberg, 69120 Heidelberg, Germany
    Hum Mol Genet 20:1524-35. 2011
    ..g. achondroplasia) and SHOX defects (e.g. LWD). In summary, these data present a link between two frequent short stature phenotypes...
  15. pmc Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart
    Sandra Puskaric
    Department of Human Molecular Genetics, Division of Developmental Genetics, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mol Genet 19:4625-33. 2010
    ....
  16. doi SrGAP3 interacts with lamellipodin at the cell membrane and regulates Rac-dependent cellular protrusions
    Volker Endris
    Department of Human Molecular Genetics, University of Heidelberg, Germany
    J Cell Sci 124:3941-55. 2011
    ..Furthermore, we show that mouse embryonic fibroblasts derived from homozygous srGAP3-knockout embryos display an increased cell area and lamellipodia formation that can be blocked by shRNA-mediated knockdown of lamellipodin...
  17. 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...
  18. pmc Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E
    Johannes Kapeller
    Department of Human Molecular Genetics, University of Heidelberg, Germany
    J Comp Neurol 519:420-32. 2011
    ....
  19. ncbi Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein
    Antonio Marchini
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, D 69120 Heidelberg, Germany
    J Mol Biol 355:590-603. 2006
    ....
  20. doi Phenotypic spectrum associated with CASK loss-of-function mutations
    Ute Moog
    Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
    J Med Genet 48:741-51. 2011
    ..Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia...
  21. ncbi BNP is a transcriptional target of the short stature homeobox gene SHOX
    Antonio Marchini
    Institute of Human Genetics, Ruprecht Karls University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Hum Mol Genet 16:3081-7. 2007
    ..Together these data strongly suggest that BNP represents a direct target of SHOX...
  22. ncbi Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients
    Bernd Frank
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Am J Med Genet B Neuropsychiatr Genet 131:1-5. 2004
    ..49, 95% CI: 0.3-0.82; genotype-wise: 15,5% vs. 29,0%, P = 0.005, OR = 0.45, 95% CI: 0.26-0.77). We suggest that this deletion may influence translational efficiency, thereby possibly affecting the development of bipolar affective disease...
  23. doi First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome
    Johannes Kapeller
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Hum Mol Genet 17:2967-77. 2008
    ..This is the first example indicating micro RNA-related expression regulation of a serotonin receptor gene with a cis-regulatory variant affecting this regulation and appearing to be associated with female IBS-D...
  24. doi Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system
    Claire Bacon
    Institute of Human Genetics, University of Heidelberg, Heidelberg, 69120, Germany
    J Comp Neurol 513:224-36. 2009
    ..Compared to srGAP2 and srGAP3, the onset of srGAP1 expression is later in most CNS tissues. We propose that these differences in expression point to functional differences between these three genes in the development of neural tissues...
  25. ncbi Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome
    Nitin Sabherwal
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    J Cell Sci 117:3041-8. 2004
    ..These results establish impairment of nuclear localization as a mechanistic basis for SHOX-related diseases...
  26. pmc Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
    Juliane Hoyer
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Am J Hum Genet 90:565-72. 2012
    ....
  27. pmc Evidence for a role of srGAP3 in the positioning of commissural axons within the ventrolateral funiculus of the mouse spinal cord
    Claire Bacon
    Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany
    PLoS ONE 6:e19887. 2011
    ..We suggest a role for srGAP3 in the lateral positioning of post crossing axons within the ventrolateral funiculus...
  28. doi Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders
    Christian Hammer
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld, Germany
    Pharmacogenet Genomics 19:790-9. 2009
    ....
  29. ncbi Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development
    Rudiger J Blaschke
    Human Genetics, University of Heidelberg, Heidelberg, Germany
    Circulation 115:1830-8. 2007
    ..Here, we report on a highly restricted expression pattern of the homeodomain transcription factor Shox2 in the sinus venosus myocardium, including the sinoatrial nodal region and the venous valves...
  30. pmc Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors
    Katja U Schneider
    University Hospital Heidelberg, Institute of Human Genetics, Heidelberg, Germany
    BMC Cancer 11:102. 2011
    ..An amplification of the SHOX2 gene locus together with the observed tumor-specific hypermethylation might explain the good performance of this marker in bronchial lavage samples...
  31. doi Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    Sabine Endele
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Nat Genet 42:1021-6. 2010
    ..Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected...
  32. doi Serotonin type 3 receptor genes: HTR3A, B, C, D, E
    Beate Niesler
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Pharmacogenomics 9:501-4. 2008
    ..HTR3A and HTR3B polymorphisms may also contribute to the etiology of psychiatric disorders and serve as predictors in CINV and in the medical treatment of psychiatric patients...
  33. pmc Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome
    Stefan Kirsch
    Institute of Human Genetics, University of Heidelberg, INF 366, 69120 Heidelberg, Germany
    Genome Res 15:195-204. 2005
    ....
  34. ncbi SHOX at a glance: from gene to protein
    Antonio Marchini
    German Cancer Research Center DKFZ and Inserm U375, Heidelberg, Germany
    Arch Physiol Biochem 113:116-23. 2007
    ..However, the exact role of SHOX in bone development still remains elusive and poses the next major challenge for researchers in this field...
  35. doi 5-HT(3) receptors: role in disease and target of drugs
    Jutta Walstab
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Pharmacol Ther 128:146-69. 2010
    ..This shall point to alternative treatment options modulating the 5-HT(3) receptor system and open new possibilities for drug development in the future...
  36. ncbi Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, Heidelberg, Germany
    Circulation 108:2843-50. 2003
    ..TGA represents a septation defect of the common outflow tract of the heart, manifesting around the fifth week during embryonic development. Despite its high prevalence, very little is known about the pathogenesis of this disease...
  37. ncbi Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients
    Bernd Frank
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Clin Rheumatol 23:338-44. 2004
    ..Sequence variants of the serotonin receptor subunit genes HTR3A and HTR3B indicate no obvious significance in the aetiology of fibromyalgia, yet they represent the basis for future studies on their pharmacogenetic relevance...
  38. ncbi Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome
    Stefan Kirsch
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany
    Hum Genet 114:173-81. 2004
    ....
  39. ncbi MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation
    Ying Yang
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, D 69120 Heidelberg, Germany
    Exp Cell Res 312:2379-93. 2006
    ..These data suggest that MEGAP negatively regulates cell migration by perturbing the actin and microtubule cytoskeleton and by hindering the formation of focal complexes...
  40. ncbi The pseudoautosomal regions, SHOX and disease
    Rüdiger Jörg Blaschke
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Curr Opin Genet Dev 16:233-9. 2006
    ..Recent analyses have furthermore revealed that the phosphorylation-sensitive function of SHOX is directly involved in chondrocyte differentiation and maturation...
  41. ncbi Characterization of the novel human serotonin receptor subunits 5-HT3C,5-HT3D, and 5-HT3E
    Beate Niesler
    Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany
    Mol Pharmacol 72:8-17. 2007
    ..These data show for the first time that the novel 5-HT(3) subunits are able to form heteromeric 5-HT(3) receptors, which exhibit quantitatively different functional properties compared with homomeric 5-HT(3A) receptors...
  42. 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
    ..Deletion analysis of this newly identified region should be included in the mutation screening of patients with LWD, LMD, and ISS...
  43. doi Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors
    Jutta Walstab
    Institute of Pharmacology and Toxicology, University of Bonn, Bonn, Germany
    Pharmacogenet Genomics 18:793-802. 2008
    ..We have characterized the impact of four naturally occurring variants in the HTR3B gene leading to amino acid exchanges within the respective subunit of heteromeric 5-HT3A/B receptors on a functional and expressional level...
  44. ncbi SHOX: a geneticist's view
    Gudrun Rappold
    J Clin Endocrinol Metab 87:1911-2; author reply 1912. 2002
  45. 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
    ..These results fit well with the proposed role of Shox in cartilage and bone differentiation and suggest chick embryos as a useful model to study further the role of Shox in limb development...
  46. 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
    ....