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- Publications
- Influence
Genome-wide Association Analysis Identifies 14 New Risk Loci for Schizophrenia
- S. Ripke, C. O’Dushlaine, +164 authors P. Sullivan
- Biology, Medicine
- Nature Genetics
- 25 August 2013
Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia… Expand
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- S. Sawcer, Garrett Hellenthal, +239 authors A. Compston
- Biology, Medicine
- Nature
- 1 August 2011
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological… Expand
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
- K. Lane, R. D. Machado, +5 authors R. Trembath
- Biology, Medicine
- Nature Genetics
- 1 September 2000
Primary pulmonary hypertension (PPH), characterized by obstruction of pre-capillary pulmonary arteries, leads to sustained elevation of pulmonary arterial pressure (mean >25 mm Hg at rest or >30 mm… Expand
SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton
- Farhana Haque, D. Lloyd, +5 authors S. Shackleton
- Biology, Medicine
- Molecular and Cellular Biology
- 15 May 2006
ABSTRACT Nuclear migration and positioning within cells are critical for many developmental processes and are governed by the cytoskeletal network. Although mechanisms of nuclear-cytoskeletal… Expand
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
- D. Evans, C. Spencer, +90 authors P. Donnelly
- Biology, Medicine
- Nature Genetics
- 1 August 2011
TLDR
Genetics and genomics of pulmonary arterial hypertension.
- R. Machado, O. Eickelberg, +8 authors W. Chung
- Medicine
- Journal of the American College of Cardiology
- 30 June 2009
Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditable (HPAH), idiopathic (IPAH), or associated with either drug-toxin exposures or other medical conditions. Familial cases… Expand
Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension
- E. Soon, Alan M. Holmes, +11 authors N. Morrell
- Medicine
- Circulation
- 31 August 2010
Background— Inflammation is a feature of pulmonary arterial hypertension (PAH), and increased circulating levels of cytokines are reported in patients with PAH. However, to date, no information… Expand
Primary Pulmonary Hypertension Is Associated With Reduced Pulmonary Vascular Expression of Type II Bone Morphogenetic Protein Receptor
- C. Atkinson, Susan Stewart, +4 authors N. Morrell
- Medicine
- Circulation
- 9 April 2002
Background—Mutations in the type II receptor for bone morphogenetic protein (BMPR-II), a receptor member of the transforming growth factor-&bgr; (TGF-&bgr;) superfamily, underlie many familial and… Expand
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
- L. Tsoi, S. Spain, +197 authors R. Trembath
- Biology
- 2012
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip,… Expand
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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
- S. Shackleton, D. Lloyd, +10 authors R. Trembath
- Biology, Medicine
- Nature Genetics
- 1 February 2000
The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a… Expand