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Items: 10

1.

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.

J Med Genet. 2000 Oct;37(10):741-5.

2.

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.

Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12.

3.

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

Sankelo M, Flanagan JA, Machado R, Harrison R, Rudarakanchana N, Morrell N, Dixon M, Halme M, Puolijoki H, Kere J, Elomaa O, Kupari M, Räisänen-Sokolowski A, Trembath RC, Laitinen T.

Hum Mutat. 2005 Aug;26(2):119-24.

PMID:
15965979
4.

Evolutionary conservation and mutational spectrum of BMPR2 gene.

Wong WK, Morse JH, Knowles JA.

Gene. 2006 Mar 1;368:84-93. Epub 2005 Dec 20.

PMID:
16361068
5.

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC.

Hum Mutat. 2006 Feb;27(2):121-32.

PMID:
16429395
6.

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG, Glissmeyer EW, Havlena GT, Carlquist J, McKinney JT, Rich S, McGoon MD, Scholand MB, Kim M, Jensen RL, Schmidt JW, Ward K.

Circulation. 2006 May 30;113(21):2509-15. Epub 2006 May 22.

PMID:
16717148
7.

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H, Cui QQ, Sun K, Song L, Zou YB, Wang XJ, Jia L, Liu X, Gao S, Zhang CN, Hui RT.

Clin Genet. 2010 Feb;77(2):189-92. doi: 10.1111/j.1399-0004.2009.01335.x. Epub 2009 Dec 10. No abstract available.

PMID:
20002458
8.

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.

Rosenzweig EB, Morse JH, Knowles JA, Chada KK, Khan AM, Roberts KE, McElroy JJ, Juskiw NK, Mallory NC, Rich S, Diamond B, Barst RJ.

J Heart Lung Transplant. 2008 Jun;27(6):668-74. doi: 10.1016/j.healun.2008.02.009. Epub 2008 Apr 9.

PMID:
18503968
9.

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

Portillo K, Santos S, Madrigal I, Blanco I, Paré C, Borderías L, Peinado VI, Roca J, Milà M, Barberà JA.

Arch Bronconeumol. 2010 Mar;46(3):129-34. doi: 10.1016/j.arbres.2009.11.005. Epub 2010 Jan 21. Spanish.

10.

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

Girerd B, Montani D, Eyries M, Yaici A, Sztrymf B, Coulet F, Sitbon O, Simonneau G, Soubrier F, Humbert M.

Respir Res. 2010 Jun 10;11:73. doi: 10.1186/1465-9921-11-73.

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