Publications:

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Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report.

Bmc Pulmonary Medicine

Zeng, Xiaofang X; Liu, Qiong Q; Rathinasabapathy, Anandharajan A; Zha, Lihuang L; Liu, Dongliang D; Tang, Yiyang Y; Sun, Jing J; Luo, Hui H; Yu, Zaixin Z

Publication Date: 2023-01-18

Variant appearance in text: EIF2AK4: 3344C>T

PubMed Link: 36653758

Variant Present in the following documents:

• 12890_2023_Article_2322.pdf

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Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties.

Diagnostics (Basel, Switzerland)

Pérez Núñez, Marta M; Alonso Charterina, Sergio S; Pérez-Olivares, Carmen C; Revilla Ostolaza, Yolanda Y; Morales Ruiz, Rafael R; Enguita Valls, Ana Belén AB; Tenorio, Jair Antonio JA; Gallego Zazo, Natalia N; De Pablo Gafas, Alicia A; Lapunzina, Pablo P; Rodríguez Chaverri, Adriana A; Escribano Subías, Pilar P

Publication Date: 2021-01-19

Variant appearance in text: EIF2AK4: 3344C>T; P1115L

PubMed Link: 33477983

Variant Present in the following documents:

• Main text
• diagnostics-11-00141.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: EIF2AK4: 3344C>T; P1115L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Genes

Castaño, Jair Antonio Tenorio JAT; Hernández-Gonzalez, Ignacio I; Gallego, Natalia N; Pérez-Olivares, Carmen C; Ochoa Parra, Nuria N; Arias, Pedro P; Granda, Elena E; Acebo, Gonzalo Gómez GG; Lago-Docampo, Mauro M; Palomino-Doza, Julian J; López Meseguer, Manuel M; Del Cerro, María Jesús MJ; Pah Consortium, Spanish S; Valverde, Diana D; Lapunzina, Pablo P; Escribano-Subías, Pilar P

Publication Date: 2020-09-30

Variant appearance in text: EIF2AK4: 3344C>T; Pro1115Leu

PubMed Link: 33007923

Variant Present in the following documents:

• Main text
• genes-11-01158.pdf

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The integrated stress response in pulmonary disease.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Emanuelli, Giulia G; Nassehzadeh-Tabriz, Nikou N; Morrell, Nick W NW; Marciniak, Stefan J SJ

Publication Date: 2020-09-30

Variant appearance in text: EIF2AK4: 3344C>T

PubMed Link: 33004527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: EIF2AK4: 3344C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report.

Bmc Pulmonary Medicine

Zeng, Xiaofang X; Chen, Fan F; Rathinasabapathy, Anandharajan A; Li, Tangzhiming T; Adnan Ali Mohammed Mohammed, Agila A; Yu, Zaixin Z

Publication Date: 2020-07-06

Variant appearance in text: EIF2AK4: 3344C>T

PubMed Link: 32631303

Variant Present in the following documents:

• Main text
• 12890_2020_Article_1186.pdf

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: EIF2AK4: 3344C>T; P1115L

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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

Respiratory Research

Eichstaedt, Christina A CA; Song, Jie J; Benjamin, Nicola N; Harutyunova, Satenik S; Fischer, Christine C; Grünig, Ekkehard E; Hinderhofer, Katrin K

Publication Date: 2016-11-04

Variant appearance in text: EIF2AK4: 3344C>T

PubMed Link: 27809840

Variant Present in the following documents:

• Main text
• 12931_2016_Article_457.pdf

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

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: EIF2AK4: 3344C>T; P1115L

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

View BVdb publication page

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