Literature DB >> 27525458

Genetic Insights into Pulmonary Arterial Hypertension. Application of Whole-Exome Sequencing to the Study of Pathogenic Mechanisms.

Haiyang Tang1, Ankit A Desai1, Jason X-J Yuan1.   

Abstract

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Year:  2016        PMID： 27525458      PMCID： PMC5003333          DOI： 10.1164/rccm.201603-0577ED

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  26 in total

1.  Inactivation of smad-transforming growth factor beta signaling by Ca(2+)-calmodulin-dependent protein kinase II.

Authors:  S J Wicks; S Lui; N Abdel-Wahab; R M Mason; A Chantry
Journal:  Mol Cell Biol       Date:  2000-11       Impact factor: 4.272

2.  Bone morphogenetic protein-2 upregulates expression and function of voltage-gated K+ channels in human pulmonary artery smooth muscle cells.

Authors:  Ivana Fantozzi; Oleksandr Platoshyn; Ada H Wong; Shen Zhang; Carmelle V Remillard; Manohar R Furtado; Olga V Petrauskene; Jason X-J Yuan
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2006-06-30       Impact factor: 5.464

3.  Critical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension.

Authors:  Anna R Hemnes; Min Zhao; James West; John H Newman; Stuart Rich; Stephen L Archer; Ivan M Robbins; Timothy S Blackwell; Joy Cogan; James E Loyd; Zhongming Zhao; Christa Gaskill; Christopher Jetter; Jonathan A Kropski; Susan M Majka; Eric D Austin
Journal:  Am J Respir Crit Care Med       Date:  2016-08-15       Impact factor: 21.405

4.  A novel channelopathy in pulmonary arterial hypertension.

Authors:  Lijiang Ma; Danilo Roman-Campos; Eric D Austin; Mélanie Eyries; Kevin S Sampson; Florent Soubrier; Marine Germain; David-Alexandre Trégouët; Alain Borczuk; Erika Berman Rosenzweig; Barbara Girerd; David Montani; Marc Humbert; James E Loyd; Robert S Kass; Wendy K Chung
Journal:  N Engl J Med       Date:  2013-07-25       Impact factor: 91.245

5.  Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

Authors:  K B Lane; R D Machado; M W Pauciulo; J R Thomson; J A Phillips; J E Loyd; W C Nichols; R C Trembath
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

6.  Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension.

Authors:  Carmelle V Remillard; Donna D Tigno; Oleksandr Platoshyn; Elyssa D Burg; Elena E Brevnova; Diane Conger; Ann Nicholson; Brinda K Rana; Richard N Channick; Lewis J Rubin; Daniel T O'connor; Jason X-J Yuan
Journal:  Am J Physiol Cell Physiol       Date:  2007-01-31       Impact factor: 4.249

7.  Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

Authors:  Barbara Girerd; David Montani; Florence Coulet; Benjamin Sztrymf; Azzeddine Yaici; Xavier Jaïs; David Tregouet; Abilio Reis; Valérie Drouin-Garraud; Alain Fraisse; Olivier Sitbon; Dermot S O'Callaghan; Gérald Simonneau; Florent Soubrier; Marc Humbert
Journal:  Am J Respir Crit Care Med       Date:  2010-01-07       Impact factor: 21.405

8.  Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.

Authors:  Marine Germain; Mélanie Eyries; David Montani; Odette Poirier; Barbara Girerd; Peter Dorfmüller; Florence Coulet; Sophie Nadaud; Svetlana Maugenre; Christophe Guignabert; Wassila Carpentier; Anton Vonk-Noordegraaf; Marilyne Lévy; Ari Chaouat; Jean-Charles Lambert; Marion Bertrand; Anne-Marie Dupuy; Luc Letenneur; Mark Lathrop; Philippe Amouyel; Thomy J L de Ravel; Marion Delcroix; Eric D Austin; Ivan M Robbins; Anna R Hemnes; James E Loyd; Erika Berman-Rosenzweig; Robyn J Barst; Wendy K Chung; Gerald Simonneau; David A Trégouët; Marc Humbert; Florent Soubrier
Journal:  Nat Genet       Date:  2013-03-17       Impact factor: 38.330

Review 9.  Exome sequencing and complex disease: practical aspects of rare variant association studies.

Authors:  Ron Do; Sekar Kathiresan; Gonçalo R Abecasis
Journal:  Hum Mol Genet       Date:  2012-09-13       Impact factor: 6.150

10.  Mutations of NOTCH3 in childhood pulmonary arterial hypertension.

Authors:  Ayako Chida; Masaki Shintani; Yoshihisa Matsushita; Hiroki Sato; Takahiro Eitoku; Tomotaka Nakayama; Yoshiyuki Furutani; Emiko Hayama; Yoichi Kawamura; Kei Inai; Shinichi Ohtsuki; Tsutomu Saji; Shigeaki Nonoyama; Toshio Nakanishi
Journal:  Mol Genet Genomic Med       Date:  2014-04-01       Impact factor: 2.183
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  6 in total

1.  AMP-activated Protein Kinase Phosphorylation of Angiotensin-Converting Enzyme 2 in Endothelium Mitigates Pulmonary Hypertension.

Authors:  Jiao Zhang; Jianjie Dong; Marcy Martin; Ming He; Brendan Gongol; Traci L Marin; Lili Chen; Xinxing Shi; Yanjun Yin; Fenqing Shang; Yan Wu; Hsi-Yuan Huang; Jin Zhang; Yu Zhang; Jian Kang; Esteban A Moya; Hsien-Da Huang; Frank L Powell; Zhen Chen; Patricia A Thistlethwaite; Zu-Yi Yuan; John Y-J Shyy
Journal:  Am J Respir Crit Care Med       Date:  2018-08-15       Impact factor: 21.405

Review 2.  The Action of Smooth Muscle Cell Potassium Channels in the Pathology of Pulmonary Arterial Hypertension.

Authors:  Yasunobu Hayabuchi
Journal:  Pediatr Cardiol       Date:  2016-11-08       Impact factor: 1.655

3.  Identifying "super responders" in pulmonary arterial hypertension.

Authors:  Stephen J Halliday; Anna R Hemnes
Journal:  Pulm Circ       Date:  2017-05-30       Impact factor: 3.017

4.  A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Authors:  Chiara Barozzi; Margherita Galletti; Luciana Tomasi; Sara De Fanti; Massimiliano Palazzini; Alessandra Manes; Marco Sazzini; Nazzareno Galiè
Journal:  Sci Rep       Date:  2019-01-24       Impact factor: 4.379

Review 5.  Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension.

Authors:  Emmanuel Eroume-A Egom; Roger Moyou-Somo; Jean Louis Essame Oyono; Rene Kamgang
Journal:  Appl Clin Genet       Date:  2021-03-11

6.  Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.

Authors:  Kevin P Cunningham; Robyn G Holden; Pilar M Escribano-Subias; Angel Cogolludo; Emma L Veale; Alistair Mathie
Journal:  J Physiol       Date:  2018-11-24       Impact factor: 5.182
  6 in total

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