Cargando…

Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants

BACKGROUND: Variants in the gene encoding bone morphogenetic protein receptor type II (BMPR2) are the most common genetic cause of pulmonary arterial hypertension (PAH), whereas biallelic variants in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zeng, Qixian, Yang, Hang, Liu, Bingyang, Ma, Yanyun, Liu, Zhihong, Chen, Qianlong, Li, Wenke, Luo, Qin, Zhao, Zhihui, Zhou, Zhou, Xiong, Changming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257189/ https://www.ncbi.nlm.nih.gov/pubmed/32471403 http://dx.doi.org/10.1186/s12890-020-01179-7

Ejemplares similares

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients
por: Yang, Hang, et al.
Publicado: (2018)

Patient-specific and gene-corrected induced pluripotent stem cell-derived endothelial cells elucidate single-cell phenotype of pulmonary veno-occlusive disease
por: Ma, Baihui, et al.
Publicado: (2022)

Circulating choline levels are associated with prognoses in patients with pulmonary hypertension: a cohort study
por: Yang, Yicheng, et al.
Publicado: (2023)

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation
por: Montani, David, et al.
Publicado: (2021)

Higher circulating Trimethylamine N-oxide levels are associated with worse severity and prognosis in pulmonary hypertension: a cohort study
por: Yang, Yicheng, et al.
Publicado: (2022)

BMPR2 Variants Underlie Nonsyndromic Oligodontia
por: Zheng, Jinglei, et al.
Publicado: (2023)

Mildly Elevated Pulmonary Arterial Pressure Is Associated With a High Risk of Progression to Pulmonary Hypertension and Increased Mortality: A Systematic Review and Meta‐Analysis
por: Xue, Lin, et al.
Publicado: (2021)

Physiologic and molecular consequences of endothelial Bmpr2 mutation
por: Majka, Susan, et al.
Publicado: (2011)

BMPR2 spruces up the endothelium in pulmonary hypertension
por: Xiong, Jianhua
Publicado: (2015)

Novel Advances in Modifying BMPR2 Signaling in PAH
por: Dannewitz Prosseda, Svenja, et al.
Publicado: (2020)

High-circulating gut microbiota-dependent metabolite trimethylamine N-oxide is associated with poor prognosis in pulmonary arterial hypertension
por: Yang, Yicheng, et al.
Publicado: (2022)

Oxidative injury is a common consequence of BMPR2 mutations
por: Lane, Kirk L., et al.
Publicado: (2011)

BMPR2 expression is suppressed by signaling through the estrogen receptor
por: Austin, Eric D, et al.
Publicado: (2012)

The genetics of pulmonary arterial hypertension in the post-BMPR2 era
por: Fessel, Joshua P., et al.
Publicado: (2011)

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
por: Russell, Bianca E., et al.
Publicado: (2019)

eIF2B promotes eIF5 dissociation from eIF2•GDP to facilitate guanine nucleotide exchange for translation initiation
por: Jennings, Martin D., et al.
Publicado: (2013)

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension
por: Pousada, Guillermo, et al.
Publicado: (2017)

Deficiency of Axl aggravates pulmonary arterial hypertension via BMPR2
por: Novoyatleva, Tatyana, et al.
Publicado: (2021)

Sequential combination therapy with parenteral prostacyclin in BMPR2 mutations carriers
por: Boucly, Athénaïs, et al.
Publicado: (2022)

Elevated BMPR2 expression amplifies osteoblast differentiation in ankylosing spondylitis
por: Jo, Sungsin, et al.
Publicado: (2023)

Translation of Sindbis Subgenomic mRNA is Independent of eIF2, eIF2A and eIF2D
por: Sanz, Miguel Angel, et al.
Publicado: (2017)

The original and two new derivative versions of the COMPERA 2.0 risk assessment model: useful tools for guiding balloon pulmonary angioplasty
por: Zhang, Yi, et al.
Publicado: (2022)

Single-cell RNA sequencing reveals that BMPR2 mutation regulates right ventricular function via ID genes
por: Du, Mingxia, et al.
Publicado: (2022)

A Retrospective on eIF2A—and Not the Alpha Subunit of eIF2
por: Komar, Anton A., et al.
Publicado: (2020)

The Initiation Factors eIF2, eIF2A, eIF2D, eIF4A, and eIF4G Are Not Involved in Translation Driven by Hepatitis C Virus IRES in Human Cells
por: González-Almela, Esther, et al.
Publicado: (2018)

Gender differences in pulmonary arterial hypertension patients with BMPR2 mutation: a meta-analysis
por: Ge, Xiaoyue, et al.
Publicado: (2020)

Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation
por: Liang, Li, et al.
Publicado: (2018)

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension
por: Johnson, Jennifer A, et al.
Publicado: (2009)

A Novel BMPR2 Mutation Associated with Pulmonary Arterial Hypertension in an Octogenarian
por: Johri, Shilpa, et al.
Publicado: (2010)

Functional Changes in Pulmonary Arterial Endothelial Cells Associated with BMPR2 Mutations
por: Wang, Hu, et al.
Publicado: (2014)

BMP2/BMPR1A is linked to tumour progression in dedifferentiated liposarcomas
por: O’Neill, Hannah L., et al.
Publicado: (2016)

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension
por: Hara, Hironori, et al.
Publicado: (2017)

15 years journey of idiopathic pulmonary arterial hypertension with BMPR2 mutation
por: Ahn, Kyung Jin, et al.
Publicado: (2019)

Adverse effects of BMPR2 suppression in macrophages in animal models of pulmonary hypertension
por: West, James, et al.
Publicado: (2020)

BMPR2 mutations and response to inhaled or parenteral prostanoids: a case series
por: Scelsi, Laura, et al.
Publicado: (2021)

High Betaine and Dynamic Increase of Betaine Levels Are Both Associated With Poor Prognosis of Patients With Pulmonary Hypertension
por: Yang, Yicheng, et al.
Publicado: (2022)

BMPR2 promoter methylation and its expression in valvular heart disease complicated with pulmonary artery hypertension
por: Li, Ni, et al.
Publicado: (2021)

Activation of the EIF2AK4-EIF2A/eIF2α-ATF4 pathway triggers autophagy response to Crohn disease-associated adherent-invasive Escherichia coli infection
por: Bretin, Alexis, et al.
Publicado: (2016)

BMPR1B mutation causes Pierre Robin sequence
por: Yang, Yongjia, et al.
Publicado: (2017)

Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a
por: Liu, Renjing, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_ctc7rlna6jbier2qfts9n6udoj