Mads Bak

Mads Bak

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Publications by authors named "Mads Bak"

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Haploinsufficiency of ARHGAP42 is associated with hypertension.

Eur J Hum Genet 2019 Aug 21;27(8):1296-1303. Epub 2019 Mar 21.

Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, 2200, Denmark.

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http://dx.doi.org/10.1038/s41431-019-0382-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777610PMC
August 2019

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Hum Mutat 2019 08 14;40(8):1057-1062. Epub 2019 May 14.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/humu.23775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688968PMC
August 2019

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family.

Mol Vis 2019 20;25:1-11. Epub 2019 Jan 20.

Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377PMC
June 2019

Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity.

Mol Cancer 2018 12 10;17(1):171. Epub 2018 Dec 10.

Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, DK-2200, Copenhagen N, Denmark.

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https://molecular-cancer.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12943-018-0918-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287350PMC
December 2018

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Am J Hum Genet 2018 06 24;102(6):1090-1103. Epub 2018 May 24.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen N, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen O, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992120PMC
June 2018

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Hum Mutat 2018 05 20;39(5):709-716. Epub 2018 Feb 20.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/humu.23408DOI Listing
May 2018

Elevation of brain-enriched miRNAs in cerebrospinal fluid of patients with acute ischemic stroke.

Biomark Res 2017 11;5:24. Epub 2017 Jul 11.

Department of Neurology, Nordsjællands Hospital, University of Copenhagen, Dyrehavevej 29, 3400 Hillerød, Denmark.

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http://dx.doi.org/10.1186/s40364-017-0104-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504978PMC
July 2017

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.

Hum Mutat 2016 Apr 4;37(4):385-95. Epub 2016 Feb 4.

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, 2600, Denmark.

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http://dx.doi.org/10.1002/humu.22953DOI Listing
April 2016

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

BMC Med Genet 2016 Apr 14;17:29. Epub 2016 Apr 14.

Wilhelm Johannsen Center for Functional Genome Research, Institute of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, DK-2200, Copenhagen N, Denmark.

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http://dx.doi.org/10.1186/s12881-016-0292-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831126PMC
April 2016

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Hum Genet 2016 Mar 2;135(3):345-57. Epub 2016 Feb 2.

Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00439-016-1635-0DOI Listing
March 2016

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Eur J Hum Genet 2015 Dec 25;23(12):1646-51. Epub 2015 Mar 25.

Clinical Genetics Clinic, The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2015.54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795208PMC
December 2015

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Mol Cytogenet 2015 30;8:106. Epub 2015 Dec 30.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, 05508-090 São Paulo, SP Brazil.

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http://dx.doi.org/10.1186/s13039-015-0205-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696321PMC
December 2015

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes.

RNA 2015 Jun 22;21(6):1085-95. Epub 2015 Apr 22.

Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Can Ruti Campus, Badalona, Barcelona 08916, Spain Josep Carreras Leukaemia Research Institute (IJC), ICO-Hospital GermansTrias i Pujol, Badalona, Barcelona 08916, Spain.

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http://dx.doi.org/10.1261/rna.046482.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436662PMC
June 2015

Dysregulation of FOXG1 by ring chromosome 14.

Mol Cytogenet 2015 9;8:24. Epub 2015 Apr 9.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s13039-015-0129-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404611PMC
April 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

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http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.

Epilepsia 2014 Dec 19;55(12):2017-27. Epub 2014 Nov 19.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark; Research Laboratory for Stereology and Neuroscience, Bispebjerg Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/epi.12839DOI Listing
December 2014

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Eur J Hum Genet 2014 Mar 17;22(3):338-43. Epub 2013 Jul 17.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ejhg.2013.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925275PMC
March 2014

Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma.

Transfusion 2013 Nov 3;53(11 Suppl 2):2892-8. Epub 2013 Apr 3.

Department of Clinical Immunology, Center for Genomic Medicine, Department of Obstetrics and Gynecology, Copenhagen University Hospital, Copenhagen, Denmark; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://doi.wiley.com/10.1111/trf.12172
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http://dx.doi.org/10.1111/trf.12172DOI Listing
November 2013

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

Eur J Hum Genet 2012 Dec 23;20(12):1315-9. Epub 2012 May 23.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/ejhg.2012.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499750PMC
December 2012

REST-mediated recruitment of polycomb repressor complexes in mammalian cells.

PLoS Genet 2012 1;8(3):e1002494. Epub 2012 Mar 1.

Biotech Research and Innovation Centre (BRIC) and Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark.

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http://dx.plos.org/10.1371/journal.pgen.1002494
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http://dx.doi.org/10.1371/journal.pgen.1002494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291536PMC
September 2012

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae.

BMC Genomics 2012 Sep 6;13:459. Epub 2012 Sep 6.

Department of Veterinary Clinical and Animal Sciences, Section of Anatomy, Cell Biology, Genetics and Bioinformatics, University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/1471-2164-13-459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3465251PMC
September 2012

Sequence and expression analysis of gaps in human chromosome 20.

Nucleic Acids Res 2012 Aug 17;40(14):6660-72. Epub 2012 Apr 17.

Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Blegdamsvej 3B, DK-2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1093/nar/gks302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413113PMC
August 2012

YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers.

J Histochem Cytochem 2012 Mar 1;60(3):188-204. Epub 2011 Dec 1.

Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1369/0022155411433331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351129PMC
March 2012

SIMPSON - an important driver for numerical simulations in solid-state NMR spectroscopy.

J Magn Reson 2011 Dec 7;213(2):401-3. Epub 2011 Sep 7.

Center for Insoluble Protein Structures (inSPIN), Interdisciplinary Nanoscience Center (iNANO) and Department of Chemistry, Aarhus University, Denmark.

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http://dx.doi.org/10.1016/j.jmr.2011.08.002DOI Listing
December 2011

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Eur J Med Genet 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110004
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http://dx.doi.org/10.1016/j.ejmg.2011.03.008DOI Listing
October 2011

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing.

Genome Res 2011 Aug 9;21(8):1388-93. Epub 2011 May 9.

Department of Science, Systems and Models, Roskilde University, DK-4000 Roskilde, Denmark.

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http://dx.doi.org/10.1101/gr.117416.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149504PMC
August 2011

MicroRNA-138 regulates osteogenic differentiation of human stromal (mesenchymal) stem cells in vivo.

Proc Natl Acad Sci U S A 2011 Apr 28;108(15):6139-44. Epub 2011 Mar 28.

Molecular Endocrinology Laboratory, KMEB, Odense University Hospital, University of South Denmark, DK-5000 Odense C, Denmark.

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http://dx.doi.org/10.1073/pnas.1016758108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076836PMC
April 2011

Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2).

J Biol Chem 2010 Aug 15;285(33):25115-25. Epub 2010 Jun 15.

Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3. 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1074/jbc.M109.089516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2919073PMC
August 2010

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells.

Nature 2010 Mar;464(7286):306-10

Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Ole Maaløes Vej 5, 2200 Copenhagen N, Denmark.

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http://www.nature.com/articles/nature08788
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http://dx.doi.org/10.1038/nature08788DOI Listing
March 2010

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

DNA Cell Biol 2008 May;27(5):251-6

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1089/dna.2007.0625DOI Listing
May 2008

MicroRNA expression in the adult mouse central nervous system.

RNA 2008 Mar 29;14(3):432-44. Epub 2008 Jan 29.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, DK-2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1261/rna.783108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2248253PMC
March 2008

Altered MicroRNA expression confined to specific epithelial cell subpopulations in breast cancer.

Cancer Res 2007 Dec;67(24):11612-20

Department of Biochemistry, Dartmouth Medical School, Hanover, New Hampshire, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-07-5019DOI Listing
December 2007

Non-disjunction of chromosome 13.

Hum Mol Genet 2007 Aug 21;16(16):2004-10. Epub 2007 Jun 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1093/hmg/ddm148DOI Listing
August 2007

The hedgehog signaling pathway in cancer.

Prog Mol Subcell Biol 2005 ;40:1-28

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1007/3-540-27671-8_1DOI Listing
January 2007

Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.

Anal Biochem 2006 Nov 7;358(1):111-9. Epub 2006 Sep 7.

Wilhelm Johannsen Center for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, DK-2200N Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ab.2006.08.023DOI Listing
November 2006

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.

Am J Med Genet A 2005 Jan;132A(3):310-3

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.30474DOI Listing
January 2005

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.

Brain Res Mol Brain Res 2004 Jul;126(2):207-11

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Blegdamsvej 3, Bldg. 24.4, DK-2200N Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.molbrainres.2004.04.005DOI Listing
July 2004

The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.

Pharmacogenomics 2003 Jul;4(4):411-29

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1517/phgs.4.4.411.22751DOI Listing
July 2003

Specification and visualization of anisotropic interaction tensors in polypeptides and numerical simulations in biological solid-state NMR.

J Magn Reson 2002 Jan;154(1):28-45

Laboratory for Biomolecular NMR Spectroscopy, Department of Molecular and Structural Biology, University of Aarhus, DK-8000 Aarhus C, Denmark.

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http://dx.doi.org/10.1006/jmre.2001.2454DOI Listing
January 2002