J
Jan P. Dumanski
Researcher at Science for Life Laboratory
Publications - 159
Citations - 12251
Jan P. Dumanski is an academic researcher from Science for Life Laboratory. The author has contributed to research in topics: Chromosome 22 & Gene. The author has an hindex of 50, co-authored 153 publications receiving 11551 citations. Previous affiliations of Jan P. Dumanski include University of Alabama & Ludwig Institute for Cancer Research.
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Journal ArticleDOI
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more
TL;DR: The deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.
Journal ArticleDOI
The DNA sequence of human chromosome 22
Ian Dunham,Nobuyoshi Shimizu,Bruce A. Roe,S. Chissoe,Adrienne Hunt,Joanna Collins,Richard Bruskiewich,David Beare,Michele Clamp,Luc J. Smink,R Ainscough,J P Almeida,A K Babbage,C L Bagguley,J Bailey,K F Barlow,K Bates,O. Beasley,Christine P. Bird,S. Blakey,Anne Bridgeman,D. Buck,J. Burgess,J. Burgess,W Burrill,John Burton,C Carder,Nigel P. Carter,Yuan Chen,Graeme T Clark,S. M. Clegg,V. Cobley,Charlotte G. Cole,R. E. Collier,R. Connor,D. Conroy,N Corby,G. J. Coville,Antony V. Cox,J. C. Davis,J. C. Davis,Elisabeth Dawson,Pawandeep Dhami,C. Dockree,S. J. Dodsworth,Richard Durbin,Andrew D. Ellington,Kathryn L. Evans,J. M. Fey,K. Fleming,Lisa French,A. A. Garner,James G. R. Gilbert,Melanie E. Goward,Darren Grafham,Mark Griffiths,C. Hall,C. Hall,Rebekah Hall,G. Hall-Tamlyn,R. W. Heathcott,R. W. Heathcott,Shuk-Mei Ho,S. Holmes,Sarah E. Hunt,Matthew Jones,J K Kershaw,A M Kimberley,A. King,Gavin K. Laird,Cordelia Langford,Margaret A. Leversha,Christine Lloyd,D. M. Lloyd,I. D. Martyn,M Mashreghi-Mohammadi,Lucy Matthews,O. T. McCann,Joseph L. McClay,Stuart McLaren,Amanda McMurray,Sarah Milne,B. J. Mortimore,C. Odell,R. Pavitt,A. V. Pearce,D. Pearson,Benjamin Phillimore,Sam Phillips,Robert W. Plumb,H. Ramsay,Y. Ramsey,Lesley J. Rogers,Mark T. Ross,Carol Scott,Harminder Sehra,C. D. Skuce,S. Smalley,Michelle Smith,Carol Soderlund,L. Spragon,Charles A. Steward,John Sulston,R. M. Swann,M. Vaudin,M. Vaudin,Melanie M. Wall,J. M. Wallis,M. N. Whiteley,M. N. Whiteley,Dave Willey,L. Williams,Scott M. Williams,H. Williamson,H. Williamson,T. E. Wilmer,Laurens G. Wilming,Charmain L. Wright,Tim Hubbard,David R. Bentley,Stephan Beck,Jane Rogers,Shinsei Minoshima,Kazuhiko Kawasaki,Takashi Sasaki,Shuichi Asakawa,Jun Kudoh,Ai Shintani,Kazunori Shibuya,Y. Yoshizaki,Noriaki Aoki,Susumu Mitsuyama,Feng Chen,L. Chu,Judy S. Crabtree,Stéphane Deschamps,A. Do,T. Do,Angela Dorman,F. Fang,Y. Fu,P. Hu,Axin Hua,Steve Kenton,Hongshing Lai,H. I. Lao,Jennifer Lewis,S. Lewis,Shaoping Lin,P. Loh,Eda Malaj,T. Nguyen,Huaqin Pan,S. Phan,S. Qi,Y. Qian,L. Ray,Q. Ren,S. Shaull,D. Sloan,L. Song,Q. Wang,Yuhang Wang,Z. Wang,Jim White,D. Willingham,H. Wu,Ziyun Yao,M. Zhan,Genwei Zhang,Joseph A. Murray,N. Miller,Patrick Minx,Robert S. Fulton,David W. Johnson,G. Bemis,David Bentley,H. Bradshaw,S. Bourne,Matt Cordes,Zijin Du,Lucinda Fulton,D. Goela,Tina Graves,J. Hawkins,K. Hinds,K. Kemp,Phil Latreille,Dan Layman,Philip Ozersky,Tracy Rohlfing,Paul Scheet,C. Walker,A. Wamsley,Patricia Wohldmann,Kymberlie H. Pepin,Joanne O. Nelson,Ian F Korf,Joseph A. Bedell,LaDeana W. Hillier,Elaine R. Mardis,Robert H. Waterston,Richard K. Wilson,Beverly S. Emanuel,Tamim H. Shaikh,Hiroki Kurahashi,Sulagna C. Saitta,M. L. Budarf,Heather E. McDermid,Alexander Johnson,A. C.C. Wong,Bernice E. Morrow,Lisa Edelmann,U. J. Kim,Hiroaki Shizuya,Melvin I. Simon,Jan P. Dumanski,Myriam Peyrard,Darek Kedra,Eyal Seroussi,Ingegerd Fransson,I. Tapia,Carl E.G. Bruder,K. P. O'Brien +223 more
TL;DR: The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Journal ArticleDOI
Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
Carl E.G. Bruder,Arkadiusz Piotrowski,Antoinet C.J. Gijsbers,Robin Andersson,Stephen W. Erickson,Teresita Díaz de Ståhl,Uwe Menzel,Johanna Sandgren,Desiree von Tell,Andrzej Poplawski,Michael J. Crowley,Chiquito J. Crasto,E. Christopher Partridge,Hemant K. Tiwari,David B. Allison,Jan Komorowski,Gert-Jan B. van Ommen,Dorret I. Boomsma,Nancy L. Pedersen,Johan T. den Dunnen,Karin Wirdefeldt,Jan P. Dumanski,Jan P. Dumanski +22 more
TL;DR: It is suggested that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci and that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
Journal Article
Clonal Genomic Alterations in Glioma Malignancy Stages
C D James,E. Carlbom,Jan P. Dumanski,Marc F. Hansen,Magnus Nordenskjöld,Vincent Peter Collins,Webster K. Cavenee +6 more
TL;DR: A close association of the loss of chromosome 10 sequences with the most malignant histological stage of glioma is demonstrated and glioblastoma is suggested to be a common phenotypic and malignancy terminus for glial tumors of various cellular subtypes which is reached through a common molecular pathway.
Journal ArticleDOI
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma
Marie Pierre Simon,Florence Pedeutour,Nicolas Sirvent,J. Grosgeorge,Fabiola Minoletti,Jean Michel Coindre,Marie José Terrier-Lacombe,Nils Mandahl,Randall D. Craver,Nikolaus Blin,Gabriella Sozzi,Claude Turc-Carel,Kevin O'Brien,Darek Kedra,Ingegerd Fransson,Cecile Guilbaud,Jan P. Dumanski +16 more
TL;DR: The breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF) were characterised on the genomic and RNA level and deleted exon 1 of PDGFB and release this growth factor from its normal regulation.