Publications by authors named "Frank J Kaiser"

61Publications

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clin Genet 2020 Oct 3. Epub 2020 Oct 3.

Children's Hospital of Philadelphia, Division of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/cge.13851DOI Listing
October 2020

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

Chromatinopathies: A focus on Cornelia de Lange syndrome.

Clin Genet 2020 01 24;97(1):3-11. Epub 2019 Nov 24.

Department of Health Sciences, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1111/cge.13674DOI Listing
January 2020

HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Neurol Genet 2019 Jun 29;5(3):e330. Epub 2019 Apr 29.

IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC-Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center for Cardiovascular Research (DZHK e.V.) (F.J.K.), Partner Site Hamburg/Kiel/Lübeck, Lübeck; Institute of Cellular Neurosciences (M.K.H., C.H.), University of Bonn Medical School, Germany; Centre for Neuroendocrinology (M.K.H.), Department of Physiology, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand; Department of Neurophysiology and Neuropharmacology (A.C., F.J.M.Q.), Center for Physiology and Pharmacology, Medical University of Vienna, Austria; Drug Safety and Metabolism (R.N.), IMED Biotech Unit, AstraZeneca, Gothenburg, Sweden; Division of Genetics and the Roberts Individualized Medical Genetics Center (M.A.D., E.C.B.), Children's Hospital of Philadelphia, PA; Departments of Pediatrics (M.A.D.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Institute of Human Genetics (Y.L., G.Y., B.W.), University Medical Center Göttingen, Germany; Institute of Neurology (C.H.), University College London, UK; German Center for Neurodegenerative Diseases (DZNE) (C.H.), Bonn, Germany; Zentrum für Kinder- und Jugendmedizin (G.C.K.), Neuropädiatrie, Klinikum Oldenburg, Germany; Department of Medical Genetics (E.F.P.), Faculty of Medicine, Gazi University, Ankara, Turkey; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (P.B., J.M.), Vienna, Austria.

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http://dx.doi.org/10.1212/NXG.0000000000000330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561753PMC
June 2019

Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?

Parkinsonism Relat Disord 2019 08 25;65:274-276. Epub 2019 May 25.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.036DOI Listing
August 2019

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Hum Mutat 2018 12 22;39(12):2097-2109. Epub 2018 Oct 22.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Luebeck, Luebeck, Germany.

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http://dx.doi.org/10.1002/humu.23664DOI Listing
December 2018

Mosaic Intronic Variant in a Family With Cornelia de Lange Syndrome.

Front Genet 2018 13;9:255. Epub 2018 Jul 13.

Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.

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http://dx.doi.org/10.3389/fgene.2018.00255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053508PMC
July 2018

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.

Cerebellum 2018 Aug;17(4):504-506

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1007/s12311-018-0931-8DOI Listing
August 2018

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.004DOI Listing
November 2018

Functional Characterization of the Coronary Artery Disease Risk Locus.

Circulation 2017 Aug 9;136(5):476-489. Epub 2017 May 9.

From Deutsches Herzzentrum München, Klinik für Herz-und Kreislauferkrankungen, Technische Universität München, Munich, Germany (T.K., J.W., B.W., B.V., S.V.A., T.A.D., H.B.S., P.M.R., A.K., H.S.); Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Germany (J. Eckhold, R.H., F.J.K.); Center for Public Health Genomics, Department of Biomedical Engineering, University of Virginia, Charlottesville (R.A., M.C.); DZHK e.V. (German Center for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich, Germany (A.K., H.S.); Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY (J.L.M.B.); Department of Physiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Estonia (J.L.M.B.); Institut für Integrative und Experimentelle Genomik and Universitäres Herzzentrum Lübeck, Universität zu Lübeck, Germany (J. Erdmann); DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Lübeck, Germany (J. Erdmann, F.J.K.); and Departments of Human Genetics and Medicine, David Geffen School of Medicine, University of California, Los Angeles (A.J.L., M.C.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.024152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560301PMC
August 2017

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.

Hum Mol Genet 2017 08;26(15):2975-2983

Section for Functional Genetics at the Institute for Human Genetics, University of Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddx187DOI Listing
August 2017

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2017 May 29;173(5):1400-1405. Epub 2017 Mar 29.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38188DOI Listing
May 2017

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

J Mol Neurosci 2017 May 15;62(1):11-16. Epub 2017 Mar 15.

Institute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23538, Luebeck, Germany.

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http://dx.doi.org/10.1007/s12031-017-0904-2DOI Listing
May 2017

Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.

Curr Opin Genet Dev 2016 04 25;37:59-66. Epub 2016 Jan 25.

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.12.004DOI Listing
April 2016

Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men.

Clin Exp Hypertens 2015 20;37(7):580-6. Epub 2015 May 20.

a Institut für Physiologie, Universität zu Lübeck , Lübeck , Germany .

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http://dx.doi.org/10.3109/10641963.2015.1026043DOI Listing
August 2016

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 2015

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Hum Mutat 2015 Jan 2;36(1):26-9. Epub 2014 Dec 2.

Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/humu.22685DOI Listing
January 2015

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Biochim Biophys Acta 2014 Nov 1;1839(11):1196-204. Epub 2014 Aug 1.

Sektion für Funktionelle Genetik am Institut für Humangenetik, University of Luebeck, Luebeck 23538, Germany.

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http://dx.doi.org/10.1016/j.bbagrm.2014.07.019DOI Listing
November 2014

Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation.

PLoS Genet 2014 Mar 27;10(3):e1004263. Epub 2014 Mar 27.

Institut für Molekulare Medizin, Universität zu Lübeck, Lübeck, Germany; DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lubeck/Kiel, Lubeck, Germany.

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https://dx.doi.org/10.1371/journal.pgen.1004263
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http://dx.doi.org/10.1371/journal.pgen.1004263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3967965PMC
March 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Functional interaction of osteogenic transcription factors Runx2 and Vdr in transcriptional regulation of Opn during soft tissue calcification.

Am J Pathol 2013 Jul 2;183(1):60-8. Epub 2013 May 2.

Institute for Integrative and Experimental Genomics and DZHK-German Centre for Cardiovascular Research, partner site Lübeck/Hamburg/Kiel, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.ajpath.2013.03.007DOI Listing
July 2013

Homozygous THAP1 mutations as cause of early-onset generalized dystonia.

Mov Disord 2011 Apr 21;26(5):858-61. Epub 2011 Mar 21.

Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/mds.23561DOI Listing
April 2011

Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3.

Dev Biol 2009 Apr 14;328(1):40-53. Epub 2009 Jan 14.

Center for Medical Biotechnology, Department of Developmental Biology, University Duisburg-Essen, 45117 Essen, Germany.

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http://dx.doi.org/10.1016/j.ydbio.2009.01.012DOI Listing
April 2009

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications.

Nucleic Acids Res 2008 Nov 14;36(20):6450-8. Epub 2008 Oct 14.

Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1093/nar/gkn688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582609PMC
November 2008

SUMOylation modulates transcriptional repression by TRPS1.

Biol Chem 2007 Apr;388(4):381-90

Institut für Humangenetik, Universitätsklinikum Essen, D-45122 Essen, Germany.

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http://dx.doi.org/10.1515/BC.2007.051DOI Listing
April 2007

Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.

Biochem Biophys Res Commun 2007 May 19;356(3):773-9. Epub 2007 Mar 19.

Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2007.03.050DOI Listing
May 2007

The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor.

J Biol Chem 2003 Oct 28;278(40):38780-5. Epub 2003 Jul 28.

Institut für Humangenetik, Universitätsklinikum, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M306259200
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http://dx.doi.org/10.1074/jbc.M306259200DOI Listing
October 2003