G
Grainne M. O'Regan
Researcher at Boston Children's Hospital
Publications - 33
Citations - 7120
Grainne M. O'Regan is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Filaggrin & Atopic dermatitis. The author has an hindex of 23, co-authored 33 publications receiving 6444 citations.
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Journal ArticleDOI
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Colin N. A. Palmer,Alan D. Irvine,Ana Terron-Kwiatkowski,Yiwei Zhao,Haihui Liao,Simon P. Lee,David Goudie,Aileen Sandilands,Linda E. Campbell,Frances J.D. Smith,Grainne M. O'Regan,Rosemarie Watson,Jo E Cecil,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Philip Fleckman,Sue Lewis-Jones,Gehan Arseculeratne,Ann Sergeant,Colin S. Munro,Brahim El Houate,Ken McElreavey,Liselotte Brydensholt Halkjaer,Hans Bisgaard,Somnath Mukhopadhyay,Somnath Mukhopadhyay,W.H. Irwin McLean +28 more
TL;DR: It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.
Journal ArticleDOI
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Frances J.D. Smith,Alan D. Irvine,Ana Terron-Kwiatkowski,Aileen Sandilands,Linda E. Campbell,Yiwei Zhao,Haihui Liao,Alan Evans,David Goudie,Sue Lewis-Jones,Gehan Arseculeratne,Colin S. Munro,Ann Sergeant,Grainne M. O'Regan,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Richard B. Presland,Philip Fleckman,W.H. Irwin McLean +20 more
TL;DR: It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization.
Journal ArticleDOI
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands,Ana Terron-Kwiatkowski,Peter R. Hull,Grainne M. O'Regan,Timothy H Clayton,Rosemarie Watson,Thomas Carrick,Alan Evans,Haihui Liao,Yiwei Zhao,Linda E. Campbell,Matthias Schmuth,Robert Gruber,Andreas R. Janecke,Peter M. Elias,Maurice A.M. van Steensel,Ivo F Nagtzaam,Michel van Geel,Peter M. Steijlen,Colin S. Munro,Daniel G. Bradley,Colin N. A. Palmer,Frances J.D. Smith,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine +25 more
TL;DR: It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported.
Journal ArticleDOI
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis
Lavinia Paternoster,Marie Standl,Johannes Waage,H. Baurecht,Melanie Hotze,David P. Strachan,John A. Curtin,Klaus Bønnelykke,Chao Tian,Atsushi Takahashi,Jorge Esparza-Gordillo,Alexessander Couto Alves,Jacob P. Thyssen,Herman T. den Dekker,Manuel A. R. Ferreira,Elisabeth Altmaier,Patrick M. A. Sleiman,Patrick M. A. Sleiman,Feng Li Xiao,Juan R. González,Juan R. González,Ingo Marenholz,Birgit Kalb,Maria Pino-Yanes,Maria Pino-Yanes,Cheng-Jian Xu,Lisbeth Carstensen,Maria M. Groen-Blokhuis,Cristina Venturini,Craig E. Pennell,Sheila J. Barton,Albert M. Levin,Ivan Curjuric,Ivan Curjuric,Mariona Bustamante,Eskil Kreiner-Møller,Gabrielle A. Lockett,Jonas Bacelis,Supinda Bunyavanich,Rachel A. Myers,Anja Matanovic,Ashok Kumar,Joyce Y. Tung,Tomomitsu Hirota,Michiaki Kubo,Wendy L. McArdle,A. John Henderson,John P. Kemp,John P. Kemp,Jie Zheng,George Davey Smith,Franz Rueschendorf,Anja Bauerfeind,Min Ae Lee-Kirsch,Andreas Arnold,Georg Homuth,Carsten Oliver Schmidt,Elisabeth Mangold,Sven Cichon,Thomas Keil,Elke Rodriguez,Annette Peters,Andre Franke,Wolfgang Lieb,Natalija Novak,Regina Foelster-Holst,Momoko Horikoshi,Juha Pekkanen,Sylvain Sebert,Lise Lotte N. Husemoen,Niels Grarup,Johan C. de Jongste,Fernando Rivadeneira,Albert Hofman,Vincent W. V. Jaddoe,Suzanne G.M.A. Pasmans,Niels J. Elbert,André G. Uitterlinden,Guy B. Marks,Philip J. Thompson,Melanie C. Matheson,Colin F. Robertson,Janina S. Ried,Jin Li,Xian Bo Zuo,X. Zheng,Xianyong Yin,Liangdan Sun,Maeve A. McAleer,Grainne M. O'Regan,Caoimhe M. R. Fahy,Linda E. Campbell,Milan Macek,Michael Kurek,Donglei Hu,Celeste Eng,Dirkje S. Postma,Bjarke Feenstra,Frank Geller,Jouke-Jan Hottenga,Christel M. Middeldorp,Pirro G. Hysi,Veronique Bataille,Tim D. Spector,Carla M. T. Tiesler,Elisabeth Thiering,Badri Pahukasahasram,James J. Yang,Medea Imboden,Scott Huntsman,Natalia Vilor-Tejedor,Caroline L Relton,Ronny Myhre,Wenche Nystad,Adnan Custovic,Scott T. Weiss,Deborah A. Meyers,Cilla Soederhaell,Erik Melén,Carole Ober,Benjamin A. Raby,Angela Simpson,Bo Jacobsson,John W. Holloway,Hans Bisgaard,Jordi Sunyer,Nicole Probst-Hensch,L. Keoki Williams,Keith M. Godfrey,Carol A. Wang,Dorret I. Boomsma,Mads Melbye,Gerard H. Koppelman,Deborah Jarvis,W.H. Irwin McLean,Alan D. Irvine,Xuejun Zhang,Hakon Hakonarson,Christian Gieger,Esteban G. Burchard,Nicholas G. Martin,Liesbeth Duijts,Allan Linneberg,Marjo-Riitta Järvelin,Markus M. Noethen,Susanne Lau,Norbert Huebner,Young-Ae Lee,Mayumi Tamari,David A. Hinds,Daniel Glass,Sara J. Brown,Joachim Heinrich,David M. Evans,Stephan Weidinger +154 more
TL;DR: This paper performed a meta-analysis of >15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies.
Journal ArticleDOI
Filaggrin in atopic dermatitis
TL;DR: Recent advances in the understanding of the FLG genetics in the cause of eczema and related complex diseases are highlighted.