S
Stephen O'Rahilly
Researcher at University of Cambridge
Publications - 537
Citations - 81904
Stephen O'Rahilly is an academic researcher from University of Cambridge. The author has contributed to research in topics: Insulin resistance & Insulin. The author has an hindex of 138, co-authored 520 publications receiving 75686 citations. Previous affiliations of Stephen O'Rahilly include Dana Corporation & University of Oxford.
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Journal ArticleDOI
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
A. Kemal Topaloglu,Frank Reimann,Metin Guclu,Ayse Serap Yalin,L. Damla Kotan,Keith M. Porter,Ayşe Serin,Neslihan Önenli Mungan,Joshua R. Cook,Mehmet Nuri Ozbek,Sazi Imamoglu,N Sema Akalin,Bilgin Yüksel,Stephen O'Rahilly,Robert K. Semple +14 more
TL;DR: Findings implicate Neurokinin B as a critical central regulator of human gonadal function and suggest new approaches to the pharmacological control of human reproduction and sex hormone-related diseases.
Journal ArticleDOI
Genetics of body-weight regulation
TL;DR: The role of genetics in obesity is twofold: Studying rare mutations in humans and model organisms provides fundamental insight into a complex physiological process, and complements population-based studies that seek to reveal primary causes.
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Mapping cis - and trans -regulatory effects across multiple tissues in twins
Elin Grundberg,Kerrin S. Small,Kerrin S. Small,Åsa K. Hedman,Alexandra C. Nica,Alfonso Buil,Sarah Keildson,Jordana T. Bell,Jordana T. Bell,Yang T-P.,Eshwar Meduri,Eshwar Meduri,Amy Barrett,James Nisbett,Magdalena Sekowska,Alicja Wilk,Shin S-Y.,Daniel Glass,Mary E. Travers,Josine L. Min,Susan M. Ring,Karen M Ho,Gudmar Thorleifsson,Augustine Kong,Unnur Thorsteindottir,Unnur Thorsteindottir,Chrysanthi Ainali,Antigone S. Dimas,Neelam Hassanali,Catherine E. Ingle,David A. Knowles,Maria Krestyaninova,Christopher E. Lowe,Christopher E. Lowe,P. Di Meglio,Stephen B. Montgomery,Stephen B. Montgomery,Leopold Parts,Simon C. Potter,Gabriela L. Surdulescu,Loukia Tsaprouni,Sophia Tsoka,Veronique Bataille,Richard Durbin,Frank O. Nestle,Stephen O'Rahilly,Stephen O'Rahilly,Nicole Soranzo,Cecilia M. Lindgren,Krina T. Zondervan,Kourosh R. Ahmadi,Eric E. Schadt,Kari Stefansson,Kari Stefansson,George Davey Smith,Mark I. McCarthy,Mark I. McCarthy,Mark I. McCarthy,Panos Deloukas,Emmanouil T. Dermitzakis,Tim D. Spector +60 more
TL;DR: It is shown that at least 40% of the total heritable cis effect on expression cannot be accounted for by common cis variants, a finding that reveals the contribution of low-frequency and rare regulatory variants with respect to both transcriptional regulation and complex trait susceptibility.
Journal ArticleDOI
Resistin / Fizz3 Expression in Relation to Obesity and Peroxisome Proliferator - Activated Receptor-γ Action in Humans
David B. Savage,C. P. Sewter,Ellen S. Klenk,David G. Segal,Antonio Vidal-Puig,Robert V. Considine,Stephen O'Rahilly +6 more
TL;DR: It is concluded that the recently described relationships of murine resistin/Fizz3 expression with obesity, insulin resistance, and PPAR-gamma action may not readily translate to humans.
Journal ArticleDOI
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
I. Sadaf Farooqi,Giles S.H. Yeo,Julia M. Keogh,Shiva Aminian,Susan A. Jebb,Gary Butler,Tim Cheetham,Stephen O'Rahilly +7 more
TL;DR: The nucleotide sequence of the entire coding region of the MC4R gene is determined in 243 subjects with severe, early-onset obesity, resulting in a syndrome of hyperphagic obesity in humans that can present with either dominant or recessive patterns of inheritance.