Publications by authors named "Claes Wadelius"

69Publications

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Nature 2020 02 5;578(7793):102-111. Epub 2020 Feb 5.

The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1038/s41586-020-1965-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054214PMC
February 2020

rs953413 Regulates Polyunsaturated Fatty Acid Metabolism by Modulating ELOVL2 Expression.

iScience 2020 Feb 9;23(2):100808. Epub 2020 Jan 9.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.100808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033636PMC
February 2020

Detailed Functional Characterization of a Waist-Hip Ratio Locus in 7p15.2 Defines an Enhancer Controlling Adipocyte Differentiation.

iScience 2019 Oct 10;20:42-59. Epub 2019 Sep 10.

Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Stanford Diabetes Research Center, Stanford University, Stanford, CA 94305, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817687PMC
October 2019

Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.

Nat Med 2019 09 9;25(9):1390-1395. Epub 2019 Sep 9.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1038/s41591-019-0563-7DOI Listing
September 2019

Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population.

Pharmacogenomics 2017 Feb 13;18(3):201-213. Epub 2017 Jan 13.

Department of Medical Sciences, Clinical Pharmacology & Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.2217/pgs-2016-0184DOI Listing
February 2017

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c.

Nucleic Acids Res 2017 03;45(5):2408-2422

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala 75237, Sweden.

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http://dx.doi.org/10.1093/nar/gkw1186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389558PMC
March 2017

Maps of context-dependent putative regulatory regions and genomic signal interactions.

Nucleic Acids Res 2016 Nov 12;44(19):9110-9120. Epub 2016 Sep 12.

Department of Cell and Molecular Biology, Uppsala University, Uppsala SE-751-24, Sweden

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http://dx.doi.org/10.1093/nar/gkw800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100580PMC
November 2016

Genetic prevention of hepatitis C virus-induced liver fibrosis by allele-specific downregulation of MERTK.

Hepatol Res 2017 Jul 29;47(8):826-830. Epub 2016 Sep 29.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/hepr.12810DOI Listing
July 2017

A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers.

Hum Mutat 2016 09 2;37(9):904-13. Epub 2016 Jun 2.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, SE-751 08, Sweden.

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http://dx.doi.org/10.1002/humu.23014DOI Listing
September 2016

Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals.

Genomics 2016 06 26;107(6):248-54. Epub 2016 Apr 26.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2016.04.006DOI Listing
June 2016

Novel regulatory variant detected on the VKORC1 haplotype that is associated with warfarin dose.

Pharmacogenomics 2016 08 5;17(12):1305-14. Epub 2016 Feb 5.

Department of Medical Sciences & Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.2217/pgs-2015-0013DOI Listing
August 2016

Looking beyond GWAS: allele-specific transcription factor binding drives the association of GALNT2 to HDL-C plasma levels.

Lipids Health Dis 2016 Jan 27;15:18. Epub 2016 Jan 27.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1186/s12944-016-0183-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728761PMC
January 2016

lobChIP: from cells to sequencing ready ChIP libraries in a single day.

Epigenetics Chromatin 2015 21;8:25. Epub 2015 Jul 21.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, BMC, Uppsala University, Box 815, 75108 Uppsala, Sweden.

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http://dx.doi.org/10.1186/s13072-015-0017-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507313PMC
July 2015

Different distribution of histone modifications in genes with unidirectional and bidirectional transcription and a role of CTCF and cohesin in directing transcription.

BMC Genomics 2015 Apr 15;16:300. Epub 2015 Apr 15.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, SE-751 08, Sweden.

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http://dx.doi.org/10.1186/s12864-015-1485-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446127PMC
April 2015

Integration of genome-wide of Stat3 binding and epigenetic modification mapping with transcriptome reveals novel Stat3 target genes in glioma cells.

Biochim Biophys Acta 2014 Nov 8;1839(11):1341-50. Epub 2014 Aug 8.

Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden; Institute of Computer Science, Polish Academy of Sciences, Warszawa, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18749399140019
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http://dx.doi.org/10.1016/j.bbagrm.2014.07.010DOI Listing
November 2014

Nucleosome regulatory dynamics in response to TGFβ.

Nucleic Acids Res 2014 Jun 25;42(11):6921-34. Epub 2014 Apr 25.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, BMC, Box 815, Uppsala University, SE-75108 Uppsala, Sweden

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gku326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066760PMC
June 2014

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.

BMC Med Genomics 2013 Nov 8;6:50. Epub 2013 Nov 8.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, BMC, Uppsala University, PO BOX 815, Uppsala, SE 751 08, Sweden.

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http://dx.doi.org/10.1186/1755-8794-6-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831757PMC
November 2013

Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization.

Acta Ophthalmol 2014 May 26;92(3):238-42. Epub 2013 Apr 26.

Department of Ophthalmology, Linköping University, Linköping, SwedenDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/aos.12142DOI Listing
May 2014

A strand specific high resolution normalization method for chip-sequencing data employing multiple experimental control measurements.

Algorithms Mol Biol 2012 Jan 16;7(1). Epub 2012 Jan 16.

The Linnaeus Centre for Bioinformatics, Department of Cell and Molecular Biology, Science for Life Laboratory, Biomedical Center, Uppsala University, Box 598, SE-75124 Uppsala, Sweden.

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http://almob.biomedcentral.com/articles/10.1186/1748-7188-7-
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http://dx.doi.org/10.1186/1748-7188-7-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371767PMC
January 2012

Combinations of histone modifications mark exon inclusion levels.

PLoS One 2012 5;7(1):e29911. Epub 2012 Jan 5.

The Linnaeus Centre for Bioinformatics, Department of Cell and Molecular Biology, Science for Life Laboratory, Biomedical Center, Uppsala University, Uppsala, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029911PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3252363PMC
May 2012

Cancer associated epigenetic transitions identified by genome-wide histone methylation binding profiles in human colorectal cancer samples and paired normal mucosa.

BMC Cancer 2011 Oct 19;11:450. Epub 2011 Oct 19.

The Linnaeus Centre for Bioinformatics, Department of Cell and Molecular Biology, Science for Life Laboratory, Uppsala University, Sweden.

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http://dx.doi.org/10.1186/1471-2407-11-450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3216894PMC
October 2011

SICTIN: Rapid footprinting of massively parallel sequencing data.

BioData Min 2010 Aug 13;3(1). Epub 2010 Aug 13.

Department of Cell and Molecular Biology, The Linnaeus Centre for Bioinformatics, Uppsala University, Box 598, SE-75124 Uppsala, Sweden.

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http://dx.doi.org/10.1186/1756-0381-3-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928217PMC
August 2010

Integrative epigenomic and genomic analysis of malignant pheochromocytoma.

Exp Mol Med 2010 Jul;42(7):484-502

Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, SE-75185 Uppsala, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2912476PMC
http://dx.doi.org/10.3858/emm.2010.42.7.050DOI Listing
July 2010

Nucleosomes are well positioned in exons and carry characteristic histone modifications.

Genome Res 2009 Oct 17;19(10):1732-41. Epub 2009 Aug 17.

The Linnaeus Centre for Bioinformatics, Uppsala University, Sweden.

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http://dx.doi.org/10.1101/gr.092353.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765275PMC
October 2009

Two polypyrimidine tracts in the nitric oxide synthase 2 gene: similar regulatory sequences with different properties.

Mol Biol Rep 2010 Apr 8;37(4):2021-30. Epub 2009 Aug 8.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s11033-009-9653-9DOI Listing
April 2010

Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP.

Nucleic Acids Res 2009 Jul 18;37(12):e85. Epub 2009 May 18.

The Linnaeus Centre for Bioinformatics, Uppsala University, Sweden.

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http://dx.doi.org/10.1093/nar/gkp381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709586PMC
July 2009

Histone H3 lysine 27 trimethylation in adult differentiated colon associated to cancer DNA hypermethylation.

Epigenetics 2009 Feb 1;4(2):107-13. Epub 2009 Mar 1.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.4161/epi.4.2.8038DOI Listing
February 2009

Monte Carlo feature selection for supervised classification.

Bioinformatics 2008 Jan 28;24(1):110-7. Epub 2007 Nov 28.

Institute of Computer Science, Polish Academy of Science, Ordona 21, PL-01-237 Warsaw, Poland.

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http://dx.doi.org/10.1093/bioinformatics/btm486DOI Listing
January 2008

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

Authors:
Ewan Birney John A Stamatoyannopoulos Anindya Dutta Roderic Guigó Thomas R Gingeras Elliott H Margulies Zhiping Weng Michael Snyder Emmanouil T Dermitzakis Robert E Thurman Michael S Kuehn Christopher M Taylor Shane Neph Christoph M Koch Saurabh Asthana Ankit Malhotra Ivan Adzhubei Jason A Greenbaum Robert M Andrews Paul Flicek Patrick J Boyle Hua Cao Nigel P Carter Gayle K Clelland Sean Davis Nathan Day Pawandeep Dhami Shane C Dillon Michael O Dorschner Heike Fiegler Paul G Giresi Jeff Goldy Michael Hawrylycz Andrew Haydock Richard Humbert Keith D James Brett E Johnson Ericka M Johnson Tristan T Frum Elizabeth R Rosenzweig Neerja Karnani Kirsten Lee Gregory C Lefebvre Patrick A Navas Fidencio Neri Stephen C J Parker Peter J Sabo Richard Sandstrom Anthony Shafer David Vetrie Molly Weaver Sarah Wilcox Man Yu Francis S Collins Job Dekker Jason D Lieb Thomas D Tullius Gregory E Crawford Shamil Sunyaev William S Noble Ian Dunham France Denoeud Alexandre Reymond Philipp Kapranov Joel Rozowsky Deyou Zheng Robert Castelo Adam Frankish Jennifer Harrow Srinka Ghosh Albin Sandelin Ivo L Hofacker Robert Baertsch Damian Keefe Sujit Dike Jill Cheng Heather A Hirsch Edward A Sekinger Julien Lagarde Josep F Abril Atif Shahab Christoph Flamm Claudia Fried Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Missal Andrea Tanzer Stefan Washietl Jan Korbel Olof Emanuelsson Jakob S Pedersen Nancy Holroyd Ruth Taylor David Swarbreck Nicholas Matthews Mark C Dickson Daryl J Thomas Matthew T Weirauch James Gilbert Jorg Drenkow Ian Bell XiaoDong Zhao K G Srinivasan Wing-Kin Sung Hong Sain Ooi Kuo Ping Chiu Sylvain Foissac Tyler Alioto Michael Brent Lior Pachter Michael L Tress Alfonso Valencia Siew Woh Choo Chiou Yu Choo Catherine Ucla Caroline Manzano Carine Wyss Evelyn Cheung Taane G Clark James B Brown Madhavan Ganesh Sandeep Patel Hari Tammana Jacqueline Chrast Charlotte N Henrichsen Chikatoshi Kai Jun Kawai Ugrappa Nagalakshmi Jiaqian Wu Zheng Lian Jin Lian Peter Newburger Xueqing Zhang Peter Bickel John S Mattick Piero Carninci Yoshihide Hayashizaki Sherman Weissman Tim Hubbard Richard M Myers Jane Rogers Peter F Stadler Todd M Lowe Chia-Lin Wei Yijun Ruan Kevin Struhl Mark Gerstein Stylianos E Antonarakis Yutao Fu Eric D Green Ulaş Karaöz Adam Siepel James Taylor Laura A Liefer Kris A Wetterstrand Peter J Good Elise A Feingold Mark S Guyer Gregory M Cooper George Asimenos Colin N Dewey Minmei Hou Sergey Nikolaev Juan I Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham Haiyan Huang Nancy R Zhang Ian Holmes James C Mullikin Abel Ureta-Vidal Benedict Paten Michael Seringhaus Deanna Church Kate Rosenbloom W James Kent Eric A Stone Serafim Batzoglou Nick Goldman Ross C Hardison David Haussler Webb Miller Arend Sidow Nathan D Trinklein Zhengdong D Zhang Leah Barrera Rhona Stuart David C King Adam Ameur Stefan Enroth Mark C Bieda Jonghwan Kim Akshay A Bhinge Nan Jiang Jun Liu Fei Yao Vinsensius B Vega Charlie W H Lee Patrick Ng Atif Shahab Annie Yang Zarmik Moqtaderi Zhou Zhu Xiaoqin Xu Sharon Squazzo Matthew J Oberley David Inman Michael A Singer Todd A Richmond Kyle J Munn Alvaro Rada-Iglesias Ola Wallerman Jan Komorowski Joanna C Fowler Phillippe Couttet Alexander W Bruce Oliver M Dovey Peter D Ellis Cordelia F Langford David A Nix Ghia Euskirchen Stephen Hartman Alexander E Urban Peter Kraus Sara Van Calcar Nate Heintzman Tae Hoon Kim Kun Wang Chunxu Qu Gary Hon Rosa Luna Christopher K Glass M Geoff Rosenfeld Shelley Force Aldred Sara J Cooper Anason Halees Jane M Lin Hennady P Shulha Xiaoling Zhang Mousheng Xu Jaafar N S Haidar Yong Yu Yijun Ruan Vishwanath R Iyer Roland D Green Claes Wadelius Peggy J Farnham Bing Ren Rachel A Harte Angie S Hinrichs Heather Trumbower Hiram Clawson Jennifer Hillman-Jackson Ann S Zweig Kayla Smith Archana Thakkapallayil Galt Barber Robert M Kuhn Donna Karolchik Lluis Armengol Christine P Bird Paul I W de Bakker Andrew D Kern Nuria Lopez-Bigas Joel D Martin Barbara E Stranger Abigail Woodroffe Eugene Davydov Antigone Dimas Eduardo Eyras Ingileif B Hallgrímsdóttir Julian Huppert Michael C Zody Gonçalo R Abecasis Xavier Estivill Gerard G Bouffard Xiaobin Guan Nancy F Hansen Jacquelyn R Idol Valerie V B Maduro Baishali Maskeri Jennifer C McDowell Morgan Park Pamela J Thomas Alice C Young Robert W Blakesley Donna M Muzny Erica Sodergren David A Wheeler Kim C Worley Huaiyang Jiang George M Weinstock Richard A Gibbs Tina Graves Robert Fulton Elaine R Mardis Richard K Wilson Michele Clamp James Cuff Sante Gnerre David B Jaffe Jean L Chang Kerstin Lindblad-Toh Eric S Lander Maxim Koriabine Mikhail Nefedov Kazutoyo Osoegawa Yuko Yoshinaga Baoli Zhu Pieter J de Jong
June 2007

In vitro analysis of DNA-protein interactions by proximity ligation.

Proc Natl Acad Sci U S A 2007 Feb 20;104(9):3067-72. Epub 2007 Feb 20.

Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Dag Hammarskjöldsväg 20, SE-75185 Uppsala, Sweden.

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http://dx.doi.org/10.1073/pnas.0611229104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805562PMC
February 2007

Placental transfer of quetiapine in relation to P-glycoprotein activity.

J Psychopharmacol 2007 Sep 26;21(7):751-6. Epub 2007 Jan 26.

Department of Pharmacology and Clinical Pharmacology, Joint Clinical Biochemistry Laboratory of University of Turku, Turku University Central Hospital, Turku, Finland.

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http://jop.sagepub.com/content/early/2007/01/26/026988110607
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http://jop.sagepub.com/cgi/doi/10.1177/0269881106074065
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http://dx.doi.org/10.1177/0269881106074065DOI Listing
September 2007

Association of warfarin dose with genes involved in its action and metabolism.

Hum Genet 2007 Mar 18;121(1):23-34. Epub 2006 Oct 18.

Department of Medical Sciences, Clinical Pharmacology, University Hospital, 751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-006-0260-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797064PMC
March 2007

The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.

Mol Vis 2005 Nov 4;11:950-7. Epub 2005 Nov 4.

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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November 2005

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells.

FASEB J 2006 Jan 10;20(1):178-80. Epub 2005 Nov 10.

Augenklinik, Charité-Universitaetsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany.

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http://dx.doi.org/10.1096/fj.05-4495fjeDOI Listing
January 2006

Functional role of P-glycoprotein in the human blood-placental barrier.

Clin Pharmacol Ther 2005 Aug;78(2):123-31

Department of Pharmacology and Clinical Pharmacology, University of Turku, Finland.

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http://dx.doi.org/10.1016/j.clpt.2005.04.014DOI Listing
August 2005

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.

Ophthalmic Genet 2005 Jun;26(2):85-9

Department of Genetics and Pathology Unit of Medical Genetics, Uppsala University, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1080/13816810490967953DOI Listing
June 2005

Some microsatellites may act as novel polymorphic cis-regulatory elements through transcription factor binding.

Gene 2004 Oct;341:149-65

Department of Genetics and Pathology, Unit of Clinical Genetic, Rudbeck Laboratory, Uppsala University, Uppsala SE-75185, Sweden.

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http://dx.doi.org/10.1016/j.gene.2004.06.035DOI Listing
October 2004

A model of best vitelliform macular dystrophy in rats.

Invest Ophthalmol Vis Sci 2004 Oct;45(10):3733-9

Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona 85711, USA.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.04-0307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834278PMC
October 2004

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1.

Hereditas 2003 ;139(1):64-7

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/j.1601-5223.2003.01682.xDOI Listing
February 2004

Expression and localization of bestrophin during normal mouse development.

Invest Ophthalmol Vis Sci 2003 Aug;44(8):3622-8

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1167/iovs.03-0030DOI Listing
August 2003

Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma.

Exp Eye Res 2003 Aug;77(2):239-43

Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala SE-751 85, Sweden.

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http://dx.doi.org/10.1016/s0014-4835(03)00109-xDOI Listing
August 2003

Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p.

Ann Genet 2003 Jan-Mar;46(1):29-35

Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1016/s0003-3995(03)00002-9DOI Listing
February 2004

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

Ophthalmic Genet 2003 Jun;24(2):103-10

Department of Genetics and Pathology, Unit of Clinical Genetics, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1076/opge.24.2.103.13997DOI Listing
June 2003

Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma.

Mol Vis 2003 Mar 24;9:93-5. Epub 2003 Mar 24.

Department of Genetics and Pathology, Unit of Clinical Genetics, Uppsala University, Uppsala, Sweden.

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March 2003

No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma.

Acta Ophthalmol Scand 2002 Aug;80(4):384-6

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Sweden.

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http://dx.doi.org/10.1034/j.1600-0420.2002.800407.xDOI Listing
August 2002

Trisomy 4q syndrome: presentation of a new case and review of the literature.

Ann Genet 2002 Apr-Jun;45(2):53-7

Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University, Sweden

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http://dx.doi.org/10.1016/s0003-3995(02)01117-6DOI Listing
February 2003

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.

Hum Genet 2002 Feb 29;110(2):145-7. Epub 2002 Jan 29.

Department of Genetics and Pathology, Rudbeck Laboratory, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-002-0680-zDOI Listing
February 2002