Publications by authors named "Gudrun Rappold"

99Publications

Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent.

Stem Cell Res 2020 Sep 19;49:102004. Epub 2020 Sep 19.

Department of Human Molecular Genetics, Institute of Human Genetics, University Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.102004DOI Listing
September 2020

Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib Selection.

Stem Cell Reports 2020 10 24;15(4):999-1013. Epub 2020 Sep 24.

Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, 69120 Heidelberg, Baden-Wuerttemberg, Germany; DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg/Mannheim, Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2020.08.015DOI Listing
October 2020

Two Cases of Recessive Intellectual Disability Caused by and Variants.

Genes (Basel) 2020 Aug 31;11(9). Epub 2020 Aug 31.

Laboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 67085 Strasbourg, France.

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http://dx.doi.org/10.3390/genes11091021DOI Listing
August 2020

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder.

Mol Psychiatry 2020 May 27. Epub 2020 May 27.

Institute of Human Genetics, Department of Human Molecular Genetics, Heidelberg University, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1038/s41380-020-0778-5DOI Listing
May 2020

Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disorders.

Neurogastroenterol Motil 2020 09 11;32(9):e13868. Epub 2020 May 11.

Department of Human Molecular Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1111/nmo.13868DOI Listing
September 2020

Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity.

Sci Rep 2020 04 8;10(1):6064. Epub 2020 Apr 8.

Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1038/s41598-020-62678-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142125PMC
April 2020

Molecular Characterization of Embryonic Stem Cell-Derived Cardiac Neural Crest-Like Cells Revealed a Spatiotemporal Expression of an Mlc-3 Isoform.

Int J Stem Cells 2020 Mar;13(1):65-79

Institute for Biological Interfaces 1, Karlsruhe Institute of Technology (KIT), Eggenstein-Leopoldshafen, Germany.

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http://dx.doi.org/10.15283/ijsc19069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7119212PMC
March 2020

Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in mice.

Proc Natl Acad Sci U S A 2019 10 14;116(44):22237-22245. Epub 2019 Oct 14.

Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, D-69120 Heidelberg, Germany;

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http://dx.doi.org/10.1073/pnas.1911429116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825283PMC
October 2019

Sex Hormones Regulate Expression.

Front Mol Neurosci 2018 25;11:337. Epub 2018 Sep 25.

Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.3389/fnmol.2018.00337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167484PMC
September 2018

Distinct Phenotypes of Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With Variants.

Front Mol Neurosci 2018 19;11:240. Epub 2018 Jul 19.

Max Planck Research Group "Molecular Neurobiology", Max Planck Institute for Medical Research, Heidelberg, Germany.

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http://dx.doi.org/10.3389/fnmol.2018.00240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060255PMC
July 2018

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.

J Neurodev Disord 2018 04 17;10(1):15. Epub 2018 Apr 17.

Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany.

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http://dx.doi.org/10.1186/s11689-018-9233-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905159PMC
April 2018

Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways.

Stem Cell Res 2017 12 11;25:278-282. Epub 2017 Jul 11.

Institute of Human Genetics, University Heidelberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Heidelberg/Mannheim, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.07.011DOI Listing
December 2017

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells.

Stem Cell Res 2017 05 29;21:51-57. Epub 2017 Mar 29.

Department of Human Molecular Genetics, Institute of Human Genetics, University Heidelberg, Germany; DZHK, German Centre for Cardiovascular Research, Partner site Heidelberg/Mannheim, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.03.018DOI Listing
May 2017

Investigation of SHANK3 in schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2017 Jun 28;174(4):390-398. Epub 2017 Mar 28.

Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.b.32528DOI Listing
June 2017

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.

Hum Mol Genet 2017 04;26(8):1511-1521

Department of Human Molecular Genetics, Medical Faculty of the Heidelberg University, Im Neuenheimer Feld 366, Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddx055DOI Listing
April 2017

The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant Database.

Hum Mutat 2017 02 9;38(2):137-147. Epub 2016 Nov 9.

Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.23136DOI Listing
February 2017

A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Endocr Rev 2016 08 29;37(4):417-48. Epub 2016 Jun 29.

Tumour Virology Division F010 (A.M.), German Cancer Research Center, 69120 Heidelberg, Germany; Department of Oncology (A.M.), Luxembourg Institute of Health 84, rue Val Fleuri L-1526, Luxembourg; Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Higashi-ku, Hamamatsu 431-3192, Japan; and Department of Human Molecular Genetics (G.A.R.), Institute of Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany.

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https://academic.oup.com/edrv/article-lookup/doi/10.1210/er.
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http://dx.doi.org/10.1210/er.2016-1036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971310PMC
August 2016

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Hum Mol Genet 2016 Feb 8;25(3):546-57. Epub 2015 Dec 8.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6525 EN, The Netherlands

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http://dx.doi.org/10.1093/hmg/ddv495DOI Listing
February 2016

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex.

PLoS One 2015 26;10(5):e0127671. Epub 2015 May 26.

Key Laboratory of Visual Science, National Ministry of Health, and School of Optometry and Ophthalmology, Wenzhou Medical University, Wenzhou, 325027, P. R. China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127671PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444005PMC
April 2016

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Genome-wide UPD screening in patients with intellectual disability.

Eur J Hum Genet 2014 Oct 7;22(10):1233-5. Epub 2014 May 7.

1] Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany [2] Rare Disease Center, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169544PMC
October 2014

Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.

Dev Dyn 2014 May 28;243(5):629-39. Epub 2014 Jan 28.

Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/dvdy.24104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232222PMC
May 2014

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Horm Res Paediatr 2013 26;80(6):431-42. Epub 2013 Nov 26.

University Hospital for Children and Adolescents, Centre for Paediatric Research, Leipzig, Germany.

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http://dx.doi.org/10.1159/000355410DOI Listing
October 2014

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

Hum Mol Genet 2014 Mar 1;23(6):1619-30. Epub 2013 Nov 1.

Tumour Virology Division F010, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 242, Heidelberg 69120, Germany.

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http://dx.doi.org/10.1093/hmg/ddt552DOI Listing
March 2014

Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia.

Basic Res Cardiol 2013 Mar 1;108(2):339. Epub 2013 Mar 1.

Department of Human Molecular Genetics, Institute of Human Genetics, University Heidelberg, INF 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1007/s00395-013-0339-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597335PMC
March 2013

Height matters-from monogenic disorders to normal variation.

Nat Rev Endocrinol 2013 Mar 22;9(3):171-7. Epub 2013 Jan 22.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1038/nrendo.2012.251DOI Listing
March 2013

The cellular function of srGAP3 and its role in neuronal morphogenesis.

Mech Dev 2013 Jun-Aug;130(6-8):391-5. Epub 2012 Nov 2.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S09254773120011
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http://dx.doi.org/10.1016/j.mod.2012.10.005DOI Listing
December 2013

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders.

Hum Genet 2012 Nov 27;131(11):1687-98. Epub 2012 Jun 27.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1007/s00439-012-1193-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470686PMC
November 2012

SrGAP3 interacts with lamellipodin at the cell membrane and regulates Rac-dependent cellular protrusions.

J Cell Sci 2011 Dec 8;124(Pt 23):3941-55. Epub 2011 Dec 8.

Department of Human Molecular Genetics, University of Heidelberg, Germany.

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http://dx.doi.org/10.1242/jcs.077081DOI Listing
December 2011

The HTR3A polymorphism c. -42C>T is associated with amygdala responsiveness in patients with irritable bowel syndrome.

Gastroenterology 2011 Jun 21;140(7):1943-51. Epub 2011 Mar 21.

Center for Neurobiology of Stress, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1053/j.gastro.2011.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757951PMC
June 2011

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

Hum Mol Genet 2011 Apr 27;20(8):1524-35. Epub 2011 Jan 27.

Department of Human Molecular Genetics, University of Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddr030DOI Listing
April 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Am J Med Genet A 2010 Nov;152A(11):2908-11

Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33692DOI Listing
November 2010

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.

Hum Mol Genet 2010 Dec 21;19(23):4625-33. Epub 2010 Sep 21.

Department of Human Molecular Genetics, Division of Developmental Genetics, Institute of Human Genetics,University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddq393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2972695PMC
December 2010

5-HT(3) receptors: role in disease and target of drugs.

Pharmacol Ther 2010 Oct 16;128(1):146-69. Epub 2010 Jul 16.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.pharmthera.2010.07.001DOI Listing
October 2010

Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome.

Horm Res Paediatr 2010 3;73(3):161-5. Epub 2010 Mar 3.

Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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https://www.karger.com/Article/FullText/284356
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http://dx.doi.org/10.1159/000284356DOI Listing
May 2010

Enhancer elements upstream of the SHOX gene are active in the developing limb.

Eur J Hum Genet 2010 May 9;18(5):527-32. Epub 2009 Dec 9.

Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.

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http://www.nature.com/articles/ejhg2009216
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http://dx.doi.org/10.1038/ejhg.2009.216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987325PMC
May 2010

Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system.

J Comp Neurol 2009 Mar;513(2):224-36

Institute of Human Genetics, University of Heidelberg, Heidelberg, 69120, Germany.

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http://dx.doi.org/10.1002/cne.21955DOI Listing
March 2009

Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors.

Pharmacogenet Genomics 2008 Sep;18(9):793-802

Institute of Pharmacology and Toxicology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1097/FPC.0b013e3283050117DOI Listing
September 2008

Serotonin type 3 receptor genes: HTR3A, B, C, D, E.

Pharmacogenomics 2008 May;9(5):501-4

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.2217/14622416.9.5.501DOI Listing
May 2008

The human pseudoautosomal regions: a review for genetic epidemiologists.

Eur J Hum Genet 2008 Jul 9;16(7):771-9. Epub 2008 Apr 9.

Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany.

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http://www.nature.com/articles/ejhg200863
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http://dx.doi.org/10.1038/ejhg.2008.63DOI Listing
July 2008

SHOX at a glance: from gene to protein.

Arch Physiol Biochem 2007 Jun;113(3):116-23

German Cancer Research Center (DKFZ) and Inserm U375, Heidelberg, Germany.

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http://dx.doi.org/10.1080/13813450701531201DOI Listing
June 2007

BNP is a transcriptional target of the short stature homeobox gene SHOX.

Hum Mol Genet 2007 Dec 19;16(24):3081-7. Epub 2007 Sep 19.

Institute of Human Genetics, Ruprecht-Karls-University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1093/hmg/ddm266DOI Listing
December 2007

The novel human SHOX allelic variant database.

Hum Mutat 2007 Oct;28(10):933-8

Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/humu.20542
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http://dx.doi.org/10.1002/humu.20542DOI Listing
October 2007

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Eur J Hum Genet 2007 Jul 18;15(7):743-51. Epub 2007 Apr 18.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201833DOI Listing
July 2007

Characterization of the novel human serotonin receptor subunits 5-HT3C,5-HT3D, and 5-HT3E.

Mol Pharmacol 2007 Jul 28;72(1):8-17. Epub 2007 Mar 28.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1124/mol.106.032144DOI Listing
July 2007

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

J Med Genet 2007 May 20;44(5):306-13. Epub 2006 Dec 20.

Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1136/jmg.2006.046581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597980PMC
May 2007

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.

J Clin Endocrinol Metab 2007 Jan 17;92(1):219-28. Epub 2006 Oct 17.

Lilly Research Laboratories, Eli Lilly & Company, Saalburgstrasse 153, D-61350 Bad Homburg, Germany.

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http://dx.doi.org/10.1210/jc.2006-1409DOI Listing
January 2007

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.

Dev Biol 2006 Oct 12;298(2):585-96. Epub 2006 Jul 12.

Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S001216060600990
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http://dx.doi.org/10.1016/j.ydbio.2006.07.008DOI Listing
October 2006

MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation.

Exp Cell Res 2006 Jul 19;312(12):2379-93. Epub 2006 Apr 19.

Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.yexcr.2006.04.001DOI Listing
July 2006

The pseudoautosomal regions, SHOX and disease.

Curr Opin Genet Dev 2006 Jun 2;16(3):233-9. Epub 2006 May 2.

Department of Human Molecular Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.gde.2006.04.004DOI Listing
June 2006

Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein.

J Mol Biol 2006 Jan 21;355(3):590-603. Epub 2005 Nov 21.

Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jmb.2005.11.007DOI Listing
January 2006

All shook up by SHOX deficiency.

J Pediatr 2005 Oct;147(4):422-4

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http://dx.doi.org/10.1016/j.jpeds.2005.06.048DOI Listing
October 2005

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Am J Hum Genet 2005 Jul 1;77(1):89-96. Epub 2005 Jun 1.

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1086/431655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226197PMC
July 2005