Frank J Kaiser

Frank J Kaiser

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Frank J Kaiser

Frank J Kaiser

Publications by authors named "Frank J Kaiser"

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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 May 25. 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
May 2019

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

Hum Mutat 2018 Dec 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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
Publisher Site
http://dx.doi.org/10.1074/jbc.M306259200DOI Listing
October 2003