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Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P.

Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. English, Spanish.


Extensive pulmonary sarcoid reaction in a patient with BMPR-2 associated idiopathic pulmonary arterial hypertension.

Braam EA, Quanjel MJ, Van Haren-Willems JH, Van Oosterhout MF, Vink A, Heijdra YF, Kwakkel-van Erp JM.

Sarcoidosis Vasc Diffuse Lung Dis. 2016 Aug 1;33(2):182-5.


A Functional Variant rs6435156C > T in BMPR2 is Associated With Increased Risk of Chronic Obstructive Pulmonary Disease (COPD) in Southern Chinese Population.

Wang J, Zhang C, Zhang Z, Zheng Z, Sun D, Yang Q, Hadadi C, Li D, Xu X, Xiong M, Zhou Q, Guo M, Wang Y, Tang C, Xu G, Yang K, Zhong N, Lu W.

EBioMedicine. 2016 Feb 5;5:167-74. doi: 10.1016/j.ebiom.2016.02.004. eCollection 2016 Mar.


BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease.

Liu D, Liu QQ, Guan LH, Jiang X, Zhou DX, Beghetti M, Qu JM, Jing ZC.

Int J Cardiol. 2016 May 15;211:132-6. doi: 10.1016/j.ijcard.2016.02.150. Epub 2016 Mar 7.


Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.

van der Bruggen CE, Happé CM, Dorfmüller P, Trip P, Spruijt OA, Rol N, Hoevenaars FP, Houweling AC, Girerd B, Marcus JT, Mercier O, Humbert M, Handoko ML, van der Velden J, Vonk Noordegraaf A, Bogaard HJ, Goumans MJ, de Man FS.

Circulation. 2016 May 3;133(18):1747-60. doi: 10.1161/CIRCULATIONAHA.115.020696. Epub 2016 Mar 16.


High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension.

Xi Q, Liu Z, Zhao Z, Luo Q, Huang Z.

PLoS One. 2016 Jan 28;11(1):e0147396. doi: 10.1371/journal.pone.0147396. eCollection 2016.


Reversal of MicroRNA Dysregulation in an Animal Model of Pulmonary Hypertension.

Gubrij IB, Pangle AK, Pang L, Johnson LG.

PLoS One. 2016 Jan 27;11(1):e0147827. doi: 10.1371/journal.pone.0147827. eCollection 2016.


BMPR2 gene therapy for PAH acts via Smad and non-Smad signalling.

Harper RL, Reynolds AM, Bonder CS, Reynolds PN.

Respirology. 2016 May;21(4):727-33. doi: 10.1111/resp.12729. Epub 2016 Jan 26.


Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report.

Wang G, Fan R, Ji R, Zou W, Penny DJ, Varghese NP, Fan Y.

BMC Pulm Med. 2016 Jan 22;16:17. doi: 10.1186/s12890-016-0183-7.


BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.

Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW.

Lancet Respir Med. 2016 Feb;4(2):129-37. doi: 10.1016/S2213-2600(15)00544-5. Epub 2016 Jan 19.


Inactivation of NKX6.3 in the stomach leads to abnormal expression of CDX2 and SOX2 required for gastric-to-intestinal transdifferentiation.

Yoon JH, Choi SS, Kim O, Choi WS, Park YK, Nam SW, Lee JY, Park WS.

Mod Pathol. 2016 Feb;29(2):194-208. doi: 10.1038/modpathol.2015.150. Epub 2016 Jan 8.


Genetic counselling in a national referral centre for pulmonary hypertension.

Girerd B, Montani D, Jaïs X, Eyries M, Yaici A, Sztrymf B, Savale L, Parent F, Coulet F, Godinas L, Lau EM, Tamura Y, Sitbon O, Soubrier F, Simonneau G, Humbert M.

Eur Respir J. 2016 Feb;47(2):541-52. doi: 10.1183/13993003.00717-2015. Epub 2015 Dec 23.


BMPR2 gene delivery reduces mutation-related PAH and counteracts TGF-β-mediated pulmonary cell signalling.

Feng F, Harper RL, Reynolds PN.

Respirology. 2016 Apr;21(3):526-32. doi: 10.1111/resp.12712. Epub 2015 Dec 21.


Raf/ERK drives the proliferative and invasive phenotype of BMPR2-silenced pulmonary artery endothelial cells.

Awad KS, Elinoff JM, Wang S, Gairhe S, Ferreyra GA, Cai R, Sun J, Solomon MA, Danner RL.

Am J Physiol Lung Cell Mol Physiol. 2016 Jan 15;310(2):L187-201. doi: 10.1152/ajplung.00303.2015. Epub 2015 Nov 20.


Comparative analysis of microRNA expression in mouse and human brown adipose tissue.

Güller I, McNaughton S, Crowley T, Gilsanz V, Kajimura S, Watt M, Russell AP.

BMC Genomics. 2015 Oct 19;16:820. doi: 10.1186/s12864-015-2045-8.


Transcriptional up-regulation of BMP-4 and BMPR-II genes in the peripheral blood of breast cancer patients: A pilot study.

Gul S, Murad S, Ehsan N, Bloodsworth P, Sultan A, Faheem M.

Cancer Biomark. 2015;15(5):551-7. doi: 10.3233/CBM-150494.


Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.


Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Lopes P, Henrique R, Baldaia H, Carneiro F, Seruca R, Tomlinson I, Kovac M, Heinimann K, Teixeira MR.

Br J Cancer. 2015 Aug 11;113(4):686-92. doi: 10.1038/bjc.2015.281. Epub 2015 Aug 6.


Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

Viales RR, Eichstaedt CA, Ehlken N, Fischer C, Lichtblau M, Grünig E, Hinderhofer K.

PLoS One. 2015 Jul 13;10(7):e0133042. doi: 10.1371/journal.pone.0133042. eCollection 2015.


MicroRNA-153 suppresses the osteogenic differentiation of human mesenchymal stem cells by targeting bone morphogenetic protein receptor type II.

Cao Y, LV Q, LV C.

Int J Mol Med. 2015 Sep;36(3):760-6. doi: 10.3892/ijmm.2015.2275. Epub 2015 Jul 7.


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