R C Trembath
Overview
Explore the profile of R C Trembath including associated specialties, affiliations and a list of published articles.
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Articles
86
Citations
3030
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Recent Articles
1.
Montani D, Eichstaedt C, Belge C, Chung W, Graf S, Grunig E, et al.
Rev Mal Respir
. 2023 Nov;
40(9-10):838-852.
PMID: 37923650
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein...
2.
Lam B, Williamson A, Finer S, Day F, Tadross J, Goncalves Soares A, et al.
Nature
. 2021 Nov;
599(7885):436-441.
PMID: 34732894
The state of somatic energy stores in metazoans is communicated to the brain, which regulates key aspects of behaviour, growth, nutrient partitioning and development. The central melanocortin system acts through...
3.
Chowdhury H, Sharmin N, Yuzbasioglu Baran M, Long L, Morrell N, Trembath R, et al.
Hum Mol Genet
. 2019 Feb;
28(13):2161-2173.
PMID: 30809644
Pulmonary arterial hypertension (PAH) is a devastating cardiovascular disorder characterized by the remodelling of pre-capillary pulmonary arteries. The vascular remodelling observed in PAH patients results from excessive proliferation and apoptosis...
4.
Pink A, Dafou D, Desai N, Holmes O, Hobbs C, Smith C, et al.
Br J Dermatol
. 2016 Jul;
175(3):632-5.
PMID: 27467207
No abstract available.
5.
Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, et al.
Br J Cancer
. 2013 Dec;
110(4):1053-7.
PMID: 24366306
Background: Invasive lobular breast cancer (ILC) and lobular carcinoma in situ (LCIS) are characterised by loss of E-cadherin expression. However germline CDH1 mutations are rare in cases of ILC with...
6.
Walsh D, Shah S, Simpson M, Morgan N, Khaliq S, Trembath R, et al.
Scientifica (Cairo)
. 2013 Nov;
2012:649090.
PMID: 24278723
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with...
7.
Makrythanasis P, van Bon B, Steehouwer M, Rodriguez-Santiago B, Simpson M, Dias P, et al.
Clin Genet
. 2013 Jan;
84(6):539-45.
PMID: 23320472
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort...
8.
Meyer E, Kurian M, Morgan N, McNeill A, Pasha S, Tee L, et al.
Mol Genet Metab
. 2011 Oct;
104(4):637-43.
PMID: 21959080
Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements,...
9.
Capon F, Boulding H, Quaranta M, Mortimer N, Setterfield J, Black M, et al.
Br J Dermatol
. 2009 Aug;
161(6):1403-5.
PMID: 19678820
No abstract available.
10.
Quaranta M, Burden A, Griffiths C, Worthington J, Barker J, Trembath R, et al.
Genes Immun
. 2009 Jul;
10(7):654-8.
PMID: 19587699
Psoriasis is an immune-mediated skin disorder, which is inherited as a complex trait. Genome-wide linkage and association studies have identified a major disease susceptibility locus on chromosome 6p21, as well...