Publications by authors named "Gudrun A Rappold"

54Publications

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562944PMC
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

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

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

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

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

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

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

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

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

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

J Biol Chem 2003 Nov 5;278(48):47820-6. Epub 2003 Sep 5.

Institute of Human Genetics, Ruprecht-Karls-University, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M306685200
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http://dx.doi.org/10.1074/jbc.M306685200DOI Listing
November 2003

Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E.

Gene 2003 May;310:101-11

Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1016/s0378-1119(03)00503-1DOI Listing
May 2003

Congenital conductive hearing loss in dyschondrosteosis.

Ann Otol Rhinol Laryngol 2003 Feb;112(2):153-8

Department of Otorhinolaryngology, University Medical Center St Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348940311200208DOI Listing
February 2003

The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions.

J Pediatr Endocrinol Metab 2002 Dec;15 Suppl 5:1295-300

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

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December 2002

The human SHOX mutation database.

Hum Mutat 2002 Nov;20(5):338-41

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

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http://dx.doi.org/10.1002/humu.10125DOI Listing
November 2002

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

Proc Natl Acad Sci U S A 2002 Sep 23;99(18):11754-9. Epub 2002 Aug 23.

Institut für Humangenetik, Universität Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1073/pnas.162241099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC129341PMC
September 2002

Molecular characterization of a ring X chromosome in a male with short stature.

Hum Genet 2002 Apr 2;110(4):322-6. Epub 2002 Mar 2.

Department of Medical Genetics, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00439-002-0685-7DOI Listing
April 2002

Direct evidence for the Homo-Pan clade.

Chromosome Res 2002 ;10(1):55-61

Institute of Human Genetics and Anthropology, University of Freiburg, Germany.

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http://dx.doi.org/10.1023/a:1014222311431DOI Listing
August 2002