A founderEIF2AK4mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies-Reference-Cited by-同舟云学术

A founderEIF2AK4mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

Published:2015-01-07 Issue:6 Volume:88 Page:579-583
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Tenorio J.¹²,Navas P.³⁴,Barrios E.⁵,Fernández L.¹²,Nevado J.¹²,Quezada C.A.⁴,López-Meseguer M.⁶⁷⁸,Arias P.¹²,Mena R.²,Lobo J.L.⁹,Alvarez C.¹⁰,Heath K.¹²,Escribano-Subías P.³⁴,Lapunzina P.¹²

Affiliation:

1. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras; ISCIII; 28029 Madrid Spain

2. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ; Hospital Universitario La Paz, Madrid, Spain; Universidad Autónoma de Madrid (UAM); 28046 Madrid Spain

3. RIC (Red de Investigación Cardiovascular); ISCIII; 28029 Madrid Spain

4. Unidad Multidisciplinar de Hipertensión Pulmonar; Servicio de Cardiología. Hospital Doce de Octubre; Madrid Spain

5. Unidad de Cardiología pediátrica; Hospital Universitario Ramón y Cajal; Madrid Spain

6. Servicio de Neumología; Hospital Universitario Vall d' Hebron; Barcelona Spain

7. Universitat Autònoma de Barcelona; Barcelonal Spain

8. CIBERES, Centro de Investigación Biomédica en Red de Enfermedades Respiratorias; ISCIII; 28029 Madrid Spain

9. Servicio de Neumología; Hospital Txagorritxu; Vitoria Spain

10. Servicio de Neumología; Hospital Central de Asturias; Spain

Funder

ACTELION

“Spanish Pulmonary Hypertension National Association” (ANHP)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Updated clinical classification of pulmonary hypertension;Simonneau;J Am Coll Cardiol,2009

2. Updated clinical classification of pulmonary hypertension;Simonneau;J Am Coll Cardiol,2013

3. Molecular mechanisms of pulmonary arterial remodeling;Crosswhite;Mol Med,2014

4. State of the art: advanced imaging of the right ventricle and pulmonary circulation in humans (2013 Grover Conference series);Van de Veerdonk;Pulmonary Circulation,2014

5. Heritable forms of pulmonary arterial hypertension;Austin;Semin Respir Crit Care Med,2013

Cited by 60 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension;Human Molecular Genetics;2024-05-22

2. Pulmonary Arterial Hypertension (PAH) Group 1 (Part A): Overview, Classification, Clinical Subsets, and Workup;Current Respiratory Medicine Reviews;2024-05

3. Functional validation ofEIF2AK4(GCN2) missense variants associated with pulmonary arterial hypertension;2024-01-30

4. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension;Genetics in Medicine;2023-11

5. Conseil génétique et dépistage de l’hypertension artérielle pulmonaire – consensus du Consortium international pour les études génétiques dans l’HTAP – version française;Revue des Maladies Respiratoires;2023-11