N
Nuno Rocha
Researcher at University of Cambridge
Publications - 19
Citations - 731
Nuno Rocha is an academic researcher from University of Cambridge. The author has contributed to research in topics: Adipose tissue & Insulin. The author has an hindex of 11, co-authored 18 publications receiving 614 citations. Previous affiliations of Nuno Rocha include Medical Research Council & National Institute for Health Research.
Papers
More filters
Journal ArticleDOI
A Genome-Wide Association Study Reveals Variants in ARL15 that Influence Adiponectin Levels
J. Brent Richards,J. Brent Richards,Dawn M. Waterworth,Stephen O'Rahilly,Marie-France Hivert,Ruth J. F. Loos,John R. B. Perry,Toshiko Tanaka,Nicholas J. Timpson,Robert K. Semple,Nicole Soranzo,Nicole Soranzo,Kijoung Song,Nuno Rocha,Elin Grundberg,Josée Dupuis,Jose C. Florez,Jose C. Florez,Claudia Langenberg,Inga Prokopenko,Richa Saxena,Richa Saxena,Robert Sladek,Yurii S. Aulchenko,David M. Evans,Gérard Waeber,Jeanette Erdmann,Mary-Susan Burnett,Naveed Sattar,Joseph M. Devaney,Christina Willenborg,Aroon D. Hingorani,Jaquelin C. M. Witteman,Peter Vollenweider,Beate Glaser,Christian Hengstenberg,Luigi Ferrucci,David Melzer,Klaus Stark,John E. Deanfield,Janina Winogradow,Martina Grassl,Alistair S. Hall,Josephine M. Egan,John R. Thompson,Sally L. Ricketts,Inke R. König,Wibke Reinhard,Scott M. Grundy,H-Erich Wichmann,Phil Barter,Robert W. Mahley,Y. Antero Kesäniemi,Daniel J. Rader,Muredach P. Reilly,Stephen E. Epstein,Alexandre F.R. Stewart,Cornelia M. van Duijn,Heribert Schunkert,Keith Burling,Panos Deloukas,Tomi Pastinen,Nilesh J. Samani,Ruth McPherson,George Davey Smith,Timothy M. Frayling,Nicholas J. Wareham,James B. Meigs,Vincent Mooser,Tim D. Spector +69 more
TL;DR: A novel protein is identified, ARL15, which influences circulating adiponectin levels and may impact upon CHD risk, and several metabolic traits are identified.
Journal ArticleDOI
Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor
Tulay Guran,Gwen Tolhurst,Abdullah Bereket,Nuno Rocha,Keith M. Porter,Serap Turan,Fiona M. Gribble,L. Damla Kotan,Teoman Akcay,Zeynep Atay,Husniye Canan,Ayşe Serin,Stephen O'Rahilly,Frank Reimann,Robert K. Semple,A. Kemal Topaloglu +15 more
TL;DR: Homozygosity for the TACR3 His148Leu mutation leads to failure of sexual maturation in humans, whereas signaling by the mutant receptor in vitro in response to either NKB or senktide is severely impaired, which strengthens the link between NKB, the NKB receptor, and regulation of human reproductive function.
Journal ArticleDOI
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Felicity Payne,Rita Colnaghi,Nuno Rocha,Asha Seth,Julie Harris,Gillian Carpenter,William Bottomley,Eleanor Wheeler,Stephen Wong,Vladimir Saudek,David B. Savage,Stephen O'Rahilly,Jean-Claude Carel,Inês Barroso,Mark O'Driscoll,Robert K. Semple +15 more
TL;DR: Findings support a role for NSMCE2 in recovery from DNA damage and raise the possibility that loss of its function produces dwarfism through reduced tolerance of replicative stress.
Journal ArticleDOI
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Nuno Rocha,Nuno Rocha,David A Bulger,David A Bulger,David A Bulger,Andrea Frontini,Hannah Titheradge,Sigrid Bjerge Gribsholt,Rachel G. Knox,Rachel G. Knox,Matthew Page,Julie Harris,Julie Harris,Felicity Payne,Claire Adams,Claire Adams,Alison Sleigh,Alison Sleigh,John Crawford,Anette P. Gjesing,Jette Bork-Jensen,Oluf Pedersen,Inês Barroso,Torben Hansen,Helen Cox,Mary M. Reilly,Alexander M. Rossor,Rebecca J. Brown,Simeon I. Taylor,Duncan McHale,Martin Armstrong,Elif A. Oral,Vladimir Saudek,Vladimir Saudek,Stephen O'Rahilly,Stephen O'Rahilly,Eamonn R. Maher,Eamonn R. Maher,Bjørn Richelsen,David B. Savage,David B. Savage,Robert K. Semple,Robert K. Semple +42 more
TL;DR: It is suggested that specific MFN2 mutations cause tissue-selective mitochondrial dysfunction with increased adipocyte proliferation and survival, confirm a novel form of excess adiposity with paradoxical suppression of leptin expression, and suggest potential targeted therapies.
Journal ArticleDOI
Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
Isabel Huang-Doran,Louise S. Bicknell,Francis M. Finucane,Nuno Rocha,Keith M. Porter,Y. C. Loraine Tung,Ferenc Szekeres,Anna Krook,John J. Nolan,Mark O'Driscoll,Michael B. Bober,Stephen O'Rahilly,Andrew P. Jackson,Robert K. Semple +13 more
TL;DR: The prevalence of diabetes and insulin resistance among patients with PCNT defects was determined and the effects of pericentrin depletion on insulin action using 3T3-L1 adipocytes as a model system was examined.