C
Carlos López-Otín
Researcher at University of Oviedo
Publications - 521
Citations - 99434
Carlos López-Otín is an academic researcher from University of Oviedo. The author has contributed to research in topics: Matrix metalloproteinase & Gene. The author has an hindex of 126, co-authored 494 publications receiving 83933 citations. Previous affiliations of Carlos López-Otín include University of Barcelona & Lund University.
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Journal ArticleDOI
Cathepsin Z, a Novel Human Cysteine Proteinase with a Short Propeptide Domain and a Unique Chromosomal Location *
TL;DR: It is proposed that cathepsin Z may be the first representative of a novel subfamily of this class of proteolytic enzymes, including diverse peptide insertions and an unusual short propeptide, together with its unique chromosomal location among cysteine proteinases.
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A genomic view of the complexity of mammalian proteolytic systems.
TL;DR: The findings suggest that pseudogenization of specific protease genes has been a mechanism contributing to the evolution of the human genome, and found that proteases implicated in human hereditary diseases, and especially in neurodegenerative disorders, are highly conserved among mammals.
Journal ArticleDOI
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma
Lauren G. Aoude,Antonia L. Pritchard,Carla Daniela Robles-Espinoza,Karin Wadt,Mark Harland,Jiyeon Choi,Michael Gartside,Víctor Quesada,Peter Johansson,Jane M. Palmer,Andrew J. Ramsay,Xijun Zhang,Kristine Jones,Judith Symmons,Elizabeth A. Holland,Helen Schmid,Vanessa F. Bonazzi,Susan L. Woods,Ken Dutton-Regester,Mitchell S. Stark,Helen Snowden,Remco van Doorn,Grant W. Montgomery,Nicholas G. Martin,Thomas M. Keane,Carlos López-Otín,Anne-Marie Gerdes,Håkan Olsson,Christian Ingvar,Åke Borg,Nelleke A. Gruis,Jeffrey M. Trent,Göran Jönsson,D. Timothy Bishop,Graham J. Mann,Julia Newton-Bishop,Kevin M. Brown,David J. Adams,Nicholas K. Hayward +38 more
TL;DR: These findings add to the growing support for telomere dysregulation as a key process associated with melanoma susceptibility and suggest that these variants also predispose to a broader spectrum of cancers than just melanoma.
Journal ArticleDOI
The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia
Renée Beekman,Vicente Chapaprieta,Nuria Russiñol,Roser Vilarrasa-Blasi,Núria Verdaguer-Dot,Joost H.A. Martens,Martí Duran-Ferrer,Marta Kulis,François Serra,Biola M. Javierre,Steven W. Wingett,Guillem Clot,Ana C. Queirós,Giancarlo Castellano,Julie Blanc,Marta Gut,Angelika Merkel,Simon Heath,Anna Vlasova,Sebastian Ullrich,Emilio Palumbo,Anna Enjuanes,David Martín-García,Sílvia Beà,Magda Pinyol,Marta Aymerich,Romina Royo,Montserrat Puiggròs,David Torrents,David Torrents,Avik Datta,Ernesto Lowy,Myrto Kostadima,Maša Roller,Laura Clarke,Paul Flicek,Xabier Agirre,Xabier Agirre,Felipe Prosper,Felipe Prosper,Tycho Baumann,Julio Delgado,Armando López-Guillermo,Peter Fraser,Peter Fraser,Marie-Laure Yaspo,Roderic Guigó,Reiner Siebert,Marc A. Marti-Renom,Xose S. Puente,Xose S. Puente,Carlos López-Otín,Carlos López-Otín,Ivo Gut,Hendrik G. Stunnenberg,Elias Campo,José I. Martín-Subero +56 more
TL;DR: This study provides an integrative portrait of the CLL epigenome, identifies extensive networks of altered regulatory elements and sheds light on the relationship between the genetic and epigenetic architecture of the disease.
Journal Article
Collagenase-3 expression in breast myofibroblasts as a molecular marker of transition of ductal carcinoma in situ lesions to invasive ductal carcinomas.
Boye Schnack Nielsen,Fritz Rank,José Manuel López,Milagros Balbín,Francisco J. Vizoso,Leif R. Lund,Keld Danø,Carlos López-Otín +7 more
TL;DR: It is concluded that MMP-13 is primarily expressed by myofibroblasts in human breast carcinoma and that expression in DCIS lesions often is associated with microinvasive events.