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Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC. Thomson JR, et al. Among authors: wheeler l. J Med Genet. 2000 Oct;37(10):741-5. doi: 10.1136/jmg.37.10.741. J Med Genet. 2000. PMID: 11015450 Free PMC article.
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, Nichols WC. Machado RD, et al. Among authors: wheeler l. Am J Hum Genet. 2001 Jan;68(1):92-102. doi: 10.1086/316947. Epub 2000 Dec 12. Am J Hum Genet. 2001. PMID: 11115378 Free PMC article.
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L. Trembath RC, et al. Among authors: wheeler l. N Engl J Med. 2001 Aug 2;345(5):325-34. doi: 10.1056/NEJM200108023450503. N Engl J Med. 2001. PMID: 11484689 Free article.
Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension.
Willers ED, Newman JH, Loyd JE, Robbins IM, Wheeler LA, Prince MA, Stanton KC, Cogan JA, Runo JR, Byrne D, Humbert M, Simonneau G, Sztrymf B, Morse JA, Knowles JA, Roberts KE, McElroy JJ, Barst RJ, Phillips JA 3rd. Willers ED, et al. Am J Respir Crit Care Med. 2006 Apr 1;173(7):798-802. doi: 10.1164/rccm.200509-1361OC. Epub 2005 Dec 9. Am J Respir Crit Care Med. 2006. PMID: 16339917 Free PMC article.
Aberrant signal transduction in pulmonary hypertension.
Lane KB, Blackwell TR, Runo J, Wheeler L, Phillips JA 3rd, Loyd JE. Lane KB, et al. Among authors: wheeler l. Chest. 2005 Dec;128(6 Suppl):564S-565S. doi: 10.1378/chest.128.6_suppl.564S-a. Chest. 2005. PMID: 16373826 No abstract available.
598 results