D
David Markie
Researcher at University of Otago
Publications - 71
Citations - 6037
David Markie is an academic researcher from University of Otago. The author has contributed to research in topics: Germline mutation & Gene mapping. The author has an hindex of 25, co-authored 68 publications receiving 5614 citations. Previous affiliations of David Markie include Guy's Hospital & King's College London.
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Journal ArticleDOI
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Akseli Hemminki,David Markie,Ian Tomlinson,Egle Avizienyte,Stina Roth,Anu Loukola,Graham R. Bignell,William H. Warren,Maria Aminoff,Pia Höglund,H Järvinen,Paula Kristo,Katarina Pelin,Maaret Ridanpää,Reijo Salovaara,T Toro,Walter F. Bodmer,S Olschwang,Anne S. Olsen,Michael R. Stratton,A de la Chapelle,Lauri A. Aaltonen +21 more
TL;DR: The molecular background of the Peutz–Jeghers syndrome, a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems, is investigated and truncating germline mutations in a gene residing on chromosome 19p are identified.
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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Eugene D. Carstea,Jill A. Morris,Katherine G. Coleman,Stacie K. Loftus,Dana Zhang,Christiano Cummings,Jessie Z. Gu,Melissa A. Rosenfeld,William J. Pavan,David B. Krizman,James W. Nagle,M H Polymeropoulos,Stephen L. Sturley,Yiannis A. Ioannou,Maureen E. Higgins,Marcella E. Comly,Adele Cooney,Anthony Brown,Christine R. Kaneski,E. Joan Blanchette-Mackie,Nancy K. Dwyer,Edward B. Neufeld,Ta-Yuan Chang,Laura Liscum,Jerome F. Strauss,Kousaku Ohno,Marsha Zeigler,Rivka Carmi,J Sokol,David Markie,Raymond R. O'Neill,O. P. van Diggelen,Milan Elleder,Marc C. Patterson,Roscoe O. Brady,Marie T. Vanier,Peter G. Pentchev,Danilo A. Tagle +37 more
TL;DR: Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking.
Journal ArticleDOI
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
Akseli Hemminki,Ian Tomlinson,David Markie,Heikki Järvinen,Pertti Sistonen,Anna Maria Björkqvist,Sakari Knuutila,Reijo Salovaara,Walter F. Bodmer,Darryl Shibata,A. de la Chapelle,Lauri A. Aaltonen +11 more
TL;DR: A search for a putative tumour suppressor locus was made using comparative genomic hybridization of Peutz-Jeghers polyps, combined with loss of heterozygosity (LOH), and molecular evidence of malignant potential in hamartomas is provided.
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Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes
Xiao-Ping Zhou,Kelly Woodford-Richens,Rainer Lehtonen,Keisuke Kurose,Micheala A. Aldred,Heather Hampel,Virpi Launonen,Sanno Virta,Robert Pilarski,Reijo Salovaara,Walter F. Bodmer,Beth A. Conrad,Malcolm G. Dunlop,Shirley Hodgson,Takeo Iwama,Heikki Järvinen,Ilmo Kellokumpu,Jin Cheon Kim,Barbara A. Leggett,David Markie,Jukka-Pekka Mecklin,K Neale,Robin K. S. Phillips,J. Piris,Paul Rozen,Richard S. Houlston,Lauri A. Aaltonen,Ian Tomlinson,Charis Eng,Charis Eng +29 more
TL;DR: Germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of casesof CS/BRRS with specific colonic phenotype, which is a clinical diagnosis by exclusion.
Journal ArticleDOI
Mutations in PYCR1 cause cutis laxa with progeroid features
Bruno Reversade,Nathalie Escande-Beillard,Aikaterini Dimopoulou,Björn Fischer,Serene C Chng,Yun Li,Mohammad Shboul,Puay -Yoke Tham,Hülya Kayserili,Lihadh Al-Gazali,Monzer Shahwan,Francesco Brancati,Francesco Brancati,Hane Lee,Brian O'Connor,Mareen Schmidt-von Kegler,Barry Merriman,Stanley F. Nelson,Amira Masri,Fawaz Alkazaleh,Deanna Guerra,Paola Ferrari,Arti Nanda,Anna Rajab,David Markie,Mary J Gray,John Nelson,Arthur Grix,Annemarie Sommer,Ravi Savarirayan,Andreas R. Janecke,Elisabeth Steichen,David Sillence,Ingrid Hausser,Birgit Budde,Gudrun Nürnberg,Peter Nürnberg,Petra Seemann,Désirée Kunkel,Giovanna Zambruno,Bruno Dallapiccola,Markus Schuelke,Stephen P. Robertson,Hanan Hamamy,Bernd Wollnik,Lionel Van Maldergem,Stefan Mundlos,Uwe Kornak +47 more
TL;DR: The authors' findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues, which led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis.