Literature DB >> 25917481

A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.

Juan Gómez1, Julian R Reguero, Celso Alvarez, Manuel R Junquera, Ana Arango, César Morís, Eliecer Coto.   

Abstract

The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a total of 22 patients, the BMPR2, SMAD9, CAV1, KCNK3, and EIF2AK4 genes were sequenced with semiconductor chips and the ion torrent personal genome machine. We found six putative mutations in SMAD (p.R263Q), BMPR2 (p.S301P, p.T493I), CAV1 (p.V155I), and EIF2AK4 (p.L489P, p.P1115L) in five patients. One patient was compound heterozygous for BMPR2 + SMAD mutations, and one patient was homozygous for EIF2AK4 p.P1115L. The reported procedure would facilitate the rapid mutational screening of large cohorts of PH patients.

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Year:  2015        PMID： 25917481     DOI： 10.1007/s00408-015-9736-4

Source DB:  PubMed          Journal:  Lung        ISSN： 0341-2040            Impact factor:   2.584


  7 in total

1.  Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Authors:  Juan Gómez; Julian R Reguero; César Morís; María Martín; Victoria Alvarez; Belén Alonso; Sara Iglesias; Eliecer Coto
Journal:  Circ J       Date:  2014-10-22       Impact factor: 2.993

2.  A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Authors:  J Tenorio; P Navas; E Barrios; L Fernández; J Nevado; C A Quezada; M López-Meseguer; P Arias; R Mena; J L Lobo; C Alvarez; K Heath; P Escribano-Subías; P Lapunzina
Journal:  Clin Genet       Date:  2015-01-07       Impact factor: 4.438

3.  EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Authors:  Mélanie Eyries; David Montani; Barbara Girerd; Claire Perret; Anne Leroy; Christine Lonjou; Nadjim Chelghoum; Florence Coulet; Damien Bonnet; Peter Dorfmüller; Elie Fadel; Olivier Sitbon; Gérald Simonneau; David-Alexandre Tregouët; Marc Humbert; Florent Soubrier
Journal:  Nat Genet       Date:  2013-12-01       Impact factor: 38.330

4.  Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.

Authors:  Juan Gómez; Julian R Reguero; César Morís; Victoria Alvarez; Eliecer Coto
Journal:  J Cardiovasc Transl Res       Date:  2013-11-05       Impact factor: 4.132

5.  BMPR2 germline mutation in chronic thromboembolic pulmonary hypertension.

Authors:  Yu-Xuan Feng; Dong Liu; Ming-Li Sun; Xin Jiang; Na Sun; Yi-Min Mao; Zhi-Cheng Jing
Journal:  Lung       Date:  2014-04-13       Impact factor: 2.584

6.  EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Authors:  D Hunter Best; Kelli L Sumner; Eric D Austin; Wendy K Chung; Lynette M Brown; Alain C Borczuk; Erika B Rosenzweig; Pinar Bayrak-Toydemir; Rong Mao; Barbara C Cahill; Henry D Tazelaar; Kevin O Leslie; Anna R Hemnes; Ivan M Robbins; C Gregory Elliott
Journal:  Chest       Date:  2014-02       Impact factor: 9.410

Review 7.  Genetics and genomics of pulmonary arterial hypertension.

Authors:  Florent Soubrier; Wendy K Chung; Rajiv Machado; Ekkehard Grünig; Micheala Aldred; Mark Geraci; James E Loyd; C Gregory Elliott; Richard C Trembath; John H Newman; Marc Humbert
Journal:  J Am Coll Cardiol       Date:  2013-12-24       Impact factor: 24.094
  7 in total
  2 in total

1.  EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Authors:  Christina A Eichstaedt; Jie Song; Nicola Benjamin; Satenik Harutyunova; Christine Fischer; Ekkehard Grünig; Katrin Hinderhofer
Journal:  Respir Res       Date:  2016-11-04

Review 2.  The integrated stress response in pulmonary disease.

Authors:  Giulia Emanuelli; Nikou Nassehzadeh-Tabriz; Nick W Morrell; Stefan J Marciniak
Journal:  Eur Respir Rev       Date:  2020-10-01
  2 in total

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