• Publications
  • Influence
Genome-wide Association Analysis Identifies 14 New Risk Loci for Schizophrenia
TLDR
It is estimated that 8,300 independent, mostly common SNPs contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
TLDR
Moderate powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility.
Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension
TLDR
It is shown that FPPH is caused by mutations in BMPR2, encoding a TGF-β type II receptor (BMPR-II), which transduce signals by binding to heteromeric complexes of type I and II receptors, which activates serine/threonine kinases, leading to transcriptional regulation by phosphorylated Smads.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
TLDR
This work mapped a locus for infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility
TLDR
It is shown that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27–positive individuals.
Genetics and genomics of pulmonary arterial hypertension.
Elevated Levels of Inflammatory Cytokines Predict Survival in Idiopathic and Familial Pulmonary Arterial Hypertension
TLDR
Dysregulation of a broad range of inflammatory mediators in idiopathic and familial PAH demonstrates that cytokine levels have a previously unrecognized impact on patient survival and cytokines may prove to be useful biomarkers and provide insight into the contribution of inflammation in PAH.
SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton
TLDR
It is demonstrated that SUN1 is an integral membrane protein located at the inner nuclear membrane, and the luminal C-terminal domain of SUN1 interacts with the mammalian ANC-1 homologs nesprins 1 and 2 via their conserved KASH domain.
Primary Pulmonary Hypertension Is Associated With Reduced Pulmonary Vascular Expression of Type II Bone Morphogenetic Protein Receptor
TLDR
The cellular localization of BM PR-II is consistent with a role in the formation of pulmonary vascular lesions in PPH, and reduced BMPR-II expression may contribute to the process of vascular obliteration in severe pulmonary hypertension.
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
TLDR
Pulmonary hypertension in association with hereditary hemorrhagic telangiectasia can involve mutations in ALK1, a member of the transforming growth factor beta (TGF-beta) superfamily of receptors, which is associated with diverse effects, including the vascular dilatation characteristic of hereditary hemorrhage.
...
...