Trembath RC - Search Results

1

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Among authors: trembath rc. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.

2

Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein tùype II receptor.

Thomson J, Machado R, Pauciulo M, Morgan N, Yacoub M, Corris P, McNeil K, Loyd J, Nichols W, Trembath R. Thomson J, et al. J Heart Lung Transplant. 2001 Feb;20(2):149. doi: 10.1016/s1053-2498(01)00259-5. J Heart Lung Transplant. 2001. PMID: 11250205 No abstract available.

3

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor.

Atkinson C, Stewart S, Upton PD, Machado R, Thomson JR, Trembath RC, Morrell NW. Atkinson C, et al. Among authors: trembath rc. Circulation. 2002 Apr 9;105(14):1672-8. doi: 10.1161/01.cir.0000012754.72951.3d. Circulation. 2002. PMID: 11940546

4

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.

Rudarakanchana N, Flanagan JA, Chen H, Upton PD, Machado R, Patel D, Trembath RC, Morrell NW. Rudarakanchana N, et al. Among authors: trembath rc. Hum Mol Genet. 2002 Jun 15;11(13):1517-25. doi: 10.1093/hmg/11.13.1517. Hum Mol Genet. 2002. PMID: 12045205

5

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

Machado RD, Rudarakanchana N, Atkinson C, Flanagan JA, Harrison R, Morrell NW, Trembath RC. Machado RD, et al. Among authors: trembath rc. Hum Mol Genet. 2003 Dec 15;12(24):3277-86. doi: 10.1093/hmg/ddg365. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583445

6

Genetic basis of pulmonary arterial hypertension: current understanding and future directions.

Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA 3rd, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G. Newman JH, et al. Among authors: trembath rc. J Am Coll Cardiol. 2004 Jun 16;43(12 Suppl S):33S-39S. doi: 10.1016/j.jacc.2004.02.028. J Am Coll Cardiol. 2004. PMID: 15194176 Free article. Review.

7

BMP4 inhibits proliferation and promotes myocyte differentiation of lung fibroblasts via Smad1 and JNK pathways.

Jeffery TK, Upton PD, Trembath RC, Morrell NW. Jeffery TK, et al. Among authors: trembath rc. Am J Physiol Lung Cell Mol Physiol. 2005 Feb;288(2):L370-8. doi: 10.1152/ajplung.00242.2004. Epub 2004 Oct 29. Am J Physiol Lung Cell Mol Physiol. 2005. PMID: 15516492 Free article.

8

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW, Aldred MA, Trembath RC. Harrison RE, et al. Among authors: trembath rc. Circulation. 2005 Feb 1;111(4):435-41. doi: 10.1161/01.CIR.0000153798.78540.87. Circulation. 2005. PMID: 15687131

9

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.

Machado RD, James V, Southwood M, Harrison RE, Atkinson C, Stewart S, Morrell NW, Trembath RC, Aldred MA. Machado RD, et al. Among authors: trembath rc. Circulation. 2005 Feb 8;111(5):607-13. doi: 10.1161/01.CIR.0000154543.07679.08. Circulation. 2005. PMID: 15699281

10

Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension.

Yang X, Long L, Southwood M, Rudarakanchana N, Upton PD, Jeffery TK, Atkinson C, Chen H, Trembath RC, Morrell NW. Yang X, et al. Among authors: trembath rc. Circ Res. 2005 May 27;96(10):1053-63. doi: 10.1161/01.RES.0000166926.54293.68. Epub 2005 Apr 21. Circ Res. 2005. PMID: 15845886

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