Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 146 Records) |
Query Trace: Hypertension and PAH[original query] |
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Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation. The European respiratory journal 2020 12 58 (1): . Montani David, Girerd Barbara, Jaïs Xavier, Laveneziana Pierantonio, Lau Edmund M T, Bouchachi Amir, Hascoët Sébastien, Günther Sven, Godinas Laurent, Parent Florence, Guignabert Christophe, Beurnier Antoine, Chemla Denis, Hervé Philippe, Eyries Mélanie, Soubrier Florent, Simonneau Gérald, Sitbon Olivier, Savale Laurent, Humbert Ma |
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circulation. Genomic and precision medicine 2020 12 14 (1): e003155. Swietlik Emilia M, Greene Daniel, Zhu Na, Megy Karyn, Cogliano Marcella, Rajaram Smitha, Pandya Divya, Tilly Tobias, Lutz Katie A, Welch Carrie C L, Pauciulo Michael W, Southgate Laura, Martin Jennifer M, Treacy Carmen M, Penkett Christopher J, Stephens Jonathan C, Bogaard Harm J, Church Colin, Coghlan Gerry, Coleman Anna W, Condliffe Robin, Eichstaedt Christina A, Eyries Mélanie, Gall Henning, Ghio Stefano, Girerd Barbara, Grünig Ekkehard, Holden Simon, Howard Luke, Humbert Marc, Kiely David G, Kovacs Gabor, Lordan Jim, Machado Rajiv D, Mackenzie Ross Robert V, McCabe Colm, Moledina Shahin, Montani David, Olschewski Horst, Pepke-Zaba Joanna, Price Laura, Rhodes Christopher J, Seeger Werner, Soubrier Florent, Suntharalingam Jay, Toshner Mark R, Vonk Noordegraaf Anton, Wharton John, Wild James M, Wort Stephen John, Lawrie Allan, Wilkins Martin R, Trembath Richard C, Shen Yufeng, Chung Wendy K, Swift Andrew J, Nichols William C, Morrell Nicholas W, Gräf Stef |
Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension. Frontiers in cardiovascular medicine 2021 9 8 711694. Takashima Tomoya, Brisset Sophie, Furukawa Asuka, Taniguchi Hirohisa, Takeyasu Rika, Kawamura Akio, Tamura Yuic |
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population. Pulmonary circulation 2021 8 11 (3): 20458940211032057. Aldalaan Abdullah M, Ramzan Khushnooda, Saleemi Sarfraz A, Weheba Ihab, Alquait Laila, Abdelsayed Abeer, Alzubi Fatima, Zaytoun Hamdeia, Alharbi Nadeen, Al-Owain Mohammed, Imtiaz Fai |
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension. Frontiers in medicine 2021 5 8 625763. Pienkos Shaun, Gallego Natalia, Condon David F, Cruz-Utrilla Alejandro, Ochoa Nuria, Nevado Julián, Arias Pedro, Agarwal Stuti, Patel Hiral, Chakraborty Ananya, Lapunzina Pablo, Escribano Pilar, Tenorio-Castaño Jair, de Jesús Pérez Vinicio |
Genetic variants in LGALS3 are related to lower galectin-3 serum levels and clinical outcomes in systemic sclerosis patients: A case-control study. Autoimmunity 2021 May 1-8. Cunha Eudes Gustavo Constantino, de Lima Camilla Albertina Dantas, Vilar Kamila de Melo, Nóbrega Marcelo Francisco de, Almeida Anderson Rodrigues de, Pereira Michelly Cristiny, Dantas Andréa Tavares, Gonçalves Rafaela Silva Guimarães, Rêgo Moacyr Jesus Barreto de Melo, Duarte Angela Luzia Branco Pinto, Pitta Maira Galdino da Roc |
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome medicine 2021 May 13 (1): 80. Zhu Na, Swietlik Emilia M, Welch Carrie L, Pauciulo Michael W, Hagen Jacob J, Zhou Xueya, Guo Yicheng, Karten Johannes, Pandya Divya, Tilly Tobias, Lutz Katie A, Martin Jennifer M, Treacy Carmen M, Rosenzweig Erika B, Krishnan Usha, Coleman Anna W, Gonzaga-Jauregui Claudia, Lawrie Allan, Trembath Richard C, Wilkins Martin R, , , , , Morrell Nicholas W, Shen Yufeng, Gräf Stefan, Nichols William C, Chung Wendy |
Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next-generation sequencing. Journal of clinical laboratory analysis 2021 12 36 (2): e24183. Xu Xiao, Wang Xin, Yang Guo-Can, Liu |
Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients. Global heart 2021 12 16 (1): 70. Wang Mei-Tzu, Charng Ming-Ji, Chi Pei-Ling, Cheng Chin-Chang, Hung Cheng Chung, Huang Wei-Ch |
Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort. Genes 2021 10 12 (10): . Jansen Samara M A, van de Heuvel Lieke M, Houweling Arjan C, van Tintelen J Peter, de Man Frances S, Vonk Noordegraaf Anton, Jan Bogaard Ha |
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. International journal of molecular sciences 2022 Sep 23 (18): . Cruz-Utrilla Alejandro, Gallego-Zazo Natalia, Tenorio-Castaño Jair Antonio, Guillén Inmaculada, Torrent-Vernetta Alba, Moya-Bonora Amparo, Labrandero Carlos, Rodríguez-Monte María Elvira Garrido-Lestache, Rodríguez-Ogando Alejandro, Rey María Del Mar Rodríguez Vázquez Del, Espín Juana, Plata-Izquierdo Beatriz, Álvarez-Fuente María, Moreno-Galdó Antonio, Escribano-Subias Pilar, Marín María Jesús Del Cer |
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533. Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , , |
Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan. Frontiers in cardiovascular medicine 2022 9 911649. Liang Kae-Woei, Chang Sheng-Kai, Chen Yu-Wei, Lin Wei-Wen, Tsai Wan-Jane, Wang Kuo-Ya |
Significance of Cyclooxgenase-2 gene polymorphism and related miRNAs in pulmonary arterial hypertension. Clinical biochemistry 2022 Jun . Durmus Sinem, Atahan Ersan, Avci Kilickiran Burcak, Onal Burak, Cakatay Ufuk, Gelisgen Remise, Uzun Hafi |
Relation between endothelial nitric oxide synthase genetic polymorphisms and pulmonary arterial hypertension in newborns with congenital heart disease. Clinical and experimental hypertension (New York, N.Y. : 1993) 2022 Jun 1-6. Lin Qing-Fan, Rao Jing-Hong, Luo Shi-Mu, Wang Qing-Mu, Deng Li-Feng, Chen Xuan, Chen Chang-Di, Chen You-Fa |
TGF-? receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension. Pulmonary circulation 2022 5 12 (2): e12076. Zhang Xinyu, Zhang Chen, Li Qiangqiang, Gu Ho |
TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension. CJC open 2022 5 4 (4): 416-419. Hiraide Takahiro, Suzuki Hisato, Shinya Yoshiki, Momoi Mizuki, Inami Takumi, Katsumata Yoshinori, Fukuda Keiichi, Kosaki Kenjiro, Kataoka Masaha |
Differences in the expression of DNA methyltransferases and demethylases in leukocytes and the severity of pulmonary arterial hypertension between ethnic groups. Physiological reports 2022 5 10 (10): e15282. D'Addario Catherine A, Lanier Gregg M, Jacob Christina, Bauer Natalie, Hewes Jenny L, Bhadra Aritra, Gupte Sachin |
Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort. BioMed research international 2022 2022 6251232. Szabó Katalin, Bodoki Levente, Nagy-Vincze Melinda, Béldi Tibor, Vincze Anett, Zilahi Erika, Varga József, Sz?cs Gabriella, Dankó Katalin, Griger Zolt |
BMI and Treatment Response in Patients With Pulmonary Arterial Hypertension: A Meta-analysis. Chest 2022 3 162 (2): 436-447. McCarthy Breanne E, McClelland Robyn L, Appleby Dina H, Moutchia Jude S, Minhas Jasleen K, Min Jeff, Mazurek Jeremy A, Smith K Akaya, Fritz Jason S, Pugliese Steven C, Urbanowicz Ryan J, Holmes John H, Palevsky Harold I, Kawut Steven M, Al-Naamani Nadi |
Common Variation in EDN1 Regulatory Regions Highlights the Role of PPAR? as a Key Regulator of Endothelin in vitro. Frontiers in cardiovascular medicine 2022 3 9 823133. Lago-Docampo Mauro, Solarat Carlos, Méndez-Martínez Luis, Baloira Adolfo, Valverde Dia |
Right ventricular energetic biomarkers from 4D Flow CMR are associated with exertional capacity in pulmonary arterial hypertension. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2022 12 24 (1): 61. Zhao Xiaodan, Leng Shuang, Tan Ru-San, Chai Ping, Yeo Tee Joo, Bryant Jennifer Ann, Teo Lynette L S, Fortier Marielle V, Ruan Wen, Low Ting Ting, Ong Ching Ching, Zhang Shuo, van der Geest Rob J, Allen John C, Hughes Marina, Garg Pankaj, Tan Teng Hong, Yip James W, Tan Ju Le, Zhong Lia |
Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension.
![]() Pharmacogenetics and genomics 2022 4 32 (4): 144-151. Thomeas-McEwing Vasiliki, Psotka Mitchell A, Gamazon Eric R, Friedman Paula, Konkashbaev Anuar, Kubo Michiaki, Nakamura Yusuke, Ratain Mark J, Benza Raymond L, Cox Nancy J, Gomberg-Maitland Mardi I, Maitland Michael |
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing. Arthritis research & therapy 2023 9 25 (1): 175. Mucong Li, Yue Shi, Jiuliang Zhao, Qian Wang, Mengtao Li, Xiuli Zh |
Association study identified HLA-DQA1 as a novel genetic risk of systemic lupus erythematosus-associated pulmonary arterial hypertension. Arthritis & rheumatology (Hoboken, N.J.) 2023 6 . Junyan Qian, Ying Chen, Xinzhuang Yang, Qian Wang, Jiuliang Zhao, Xiaoyue Deng, Yufang Ding, Shengjie Li, Yongtai Liu, Zhuang Tian, Juan Shen, Qijun Liao, Yanhong Wang, Xianbo Zuo, Xuejun Zhang, Mengtao Li, Yong Cui, Xueqing Yu, Xiaofeng Ze |
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension. Radiology 2023 5 222488. Qinhua Zhao, Rui Zhang, Jingyun Shi, Huikang Xie, Liping Zhang, Fei Li, Rong Jiang, Wenhui Wu, Cijun Luo, Hongling Qiu, Huiting Li, Jing He, Ping Yuan, JinMing Liu, Sugang Gong, Lan Wa |
RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension. Pulmonary circulation 2023 4 13 (2): e12227. Clare C Prohaska, Xu Zhang, Tae-Hwi L Schwantes-An, Robert S Stearman, Stanley Hooker, Rick A Kittles, Micheala A Aldred, Katie A Lutz, Michael W Pauciulo, William C Nichols, Ankit A Desai, Victor R Gordeuk, Roberto F Macha |
Identification of novel genetic variants, including PIM1 and LINC01491, with ICD-10 based diagnosis of pulmonary arterial hypertension in the UK Biobank cohort.
![]() Frontiers in drug discovery 2023 4 3 . Alex Pu, Gautam Ramani, Yi-Ju Chen, James A Perry, Charles C Ho |
Mendelian randomization study on causal association of IL-6 signaling with pulmonary arterial hypertension. Clinical and experimental hypertension (New York, N.Y. : 1993) 2023 3 45 (1): 2183963. Zhang Min, Zeng Qi, Zhou Shan, Zhu Gaizhi, Xu Yaqi, Gao Ran, Su Wenting, Wang Ren |
Transpulmonary generation of cell-free hemoglobin contributes to vascular dysfunction in pulmonary arterial hypertension via dysregulated clearance mechanisms. Pulmonary circulation 2023 2 13 (1): e12185. Meegan Jamie E, Kerchberger Vern Eric, Fortune Niki L, McNeil Joel Brennan, Bastarache Julie A, Austin Eric D, Ware Lorraine B, Hemnes Anna R, Brittain Evan |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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