| 1 | BMPR2, PPH1
|
| Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension.
|
| Trip P, Girerd B, Bogaard HJ, de Man FS, Boonstra A, Garcia G, Humbert M, Montani D, Vonk-Noordegraaf A.
|
| Eur Respir J ur Respir J. 2013 Sep 13. [Epub ahead of print] No abstract available.
2013
|
| 2 | BMPR2, PPH1
|
| BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension.
|
| Liu D, Wu WH, Mao YM, Yuan P, Zhang R, Ju FL, Jing ZC.
|
| Circ Cardiovasc Genet 5(5):511-8. doi: 10.1161/CIRCGENETICS.111.962209. Epub 2012 Aug 25.
2012
|
| 3 | BMPR2, PPH1
|
| Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.
|
| Johnson JA, Hemnes AR, Perrien DS, Schuster M, Robinson LJ, Gladson S, Loibner H, Bai S, Blackwell TR, Tada Y, Harral JW, Talati M, Lane KB, Fagan KA, West J.
|
| Am J Physiol Lung Cell Mol Physiol 302(5):L474-84. doi: 10.1152/ajplung.00202.2011. Epub 2011 Dec 16.
2012
|
| 4 | BMPR2, PPH1
|
| Physiologic and molecular consequences of endothelial Bmpr2 mutation.
|
| Majka S, Hagen M, Blackwell T, Harral J, Johnson JA, Gendron R, Paradis H, Crona D, Loyd JE, Nozik-Grayck E, Stenmark KR, West J.
|
| Respir Res 12:84. doi: 10.1186/1465-9921-12-84.
2011
|
| 5 | BMPR2, PPH1
|
| Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.
|
| Wang H, Li W, Zhang W, Sun K, Song X, Gao S, Zhang C, Hui R, Hu H.
|
| Eur J Hum Genet 17(8):1063-9. Epub 2009 Feb 18.PMID: 19223935 2009
|
| 6 | PPH1
|
| 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 27(2):121-32. 2006
|
| 7 | BMPR2, PPH1
|
| 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, Raisanen-Sokolowski A, Trembath RC, Laitinen T.
|
| Hum Mutat 26(2):119-24. 2005
|
| 8 | BMPR2, PPH1
|
| Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.
|
| Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA 3rd, Loyd JE.
|
| N Engl J Med 345(5):319-24. 2001
|
| 9 | ABI2, AOX1, BMPR2, CASP10, CASP8, CD28, CFLAR, CLK1, CTLA4, DAZAP2, MAGI2, ORC2, PPH1, PSMA2, SATB2, SUMO1, TRAK2
|
| A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension.
|
| Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilarino Guell C, Aldred M, Brannon CA, Trembath RC, Nichols WC.
|
| Genomics 68(2):220-8. 2000
|
| 10 | BMPR2, PPH1
|
| 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 37(10):741-5. 2000
|
| 11 | BMPR2, PPH1
|
| Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
|
| Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikov S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA.
|
| Am J Hum Genet 67(3):737-44. 2000
|
| 12 | PPH1
|
| Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32.
|
| Nichols WC, et al.
|
| Nat Genet 15 : 277-280. 1997
|
| 13 | PPH1
|
| Genetic mapping of primary pulmonary hypertension : evidence for linkage to chromosome 2 in a large family. (abstr)
|
| Morse JH, et al.
|
| Circulation 94 : 0275. 1996
|