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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndromeAltered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteinsMutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossAP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingFunctional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertensionRegulation of bone morphogenetic protein signalling in human pulmonary vascular developmentA germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasiaBMP4 induces HO-1 via a Smad-independent, p38MAPK-dependent pathway in pulmonary artery myocytesBone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cellsMutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromeDeficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative diseaseDymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentAlbright's hereditary osteodystrophyMutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisMutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A regionMutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeMolecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypesMapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cellsGenetics and genomics of pulmonary arterial hypertensionA physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH ConsortiumEnlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS geneStress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxiaMutations in the pericentrin (PCNT) gene cause primordial dwarfismHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeAbsence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitisMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndromeGenome-wide association analysis identifies 13 new risk loci for schizophreniaMutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeEffect of octreotide on gall stone prevalence and gall bladder motility in acromegalyGenome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanismsAnalysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared lociA genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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Richard C Trembath
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P106
P21
P31
P496
0000-0003-0550-3400