Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.R873*
Back to variants list

BMPR2

NM_001204.7:p.R873*

Associated Papers

The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.

Okhrimenko G et al.

Respiratory Research, 2025

40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_exome_frozen

Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Bortolomeazzi M et al.

Gastroenterology, 2021

34197832 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_3

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.

Montani D et al.

The European Respiratory Journal, 2021

Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.

Takashima T et al.

Frontiers in Cardiovascular Medicine, 2021

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

Castaño JAT et al.

Genes, 2020

33007923 (PubMed )
Supplement: genes-11-01158-s001.zip › genes-941403-supplementary.xlsx › Supplementary_Table_1

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.

Gamou S et al.

Clinical Genetics, 2018

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Yang H et al.

Respiratory Research, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.

Best DH et al.

Chest, 2017

BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.

Ghigna MR et al.

The European Respiratory Journal, 2016

Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.

Girerd B et al.

Chest, 2015

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.

Kabata H et al.

Respirology (carlton, Vic.), 2013

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D et al.

The European Respiratory Journal, 2012

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N et al.

Respiratory Research, 2011

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

Sztrymf B et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.

Rosenzweig EB et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2008

TrkC binds to the bone morphogenetic protein type II receptor to suppress bone morphogenetic protein signaling.

Jin W et al.

Cancer Research, 2007

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG et al.

Circulation, 2006

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 2006

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Waite KA et al.

Nature Reviews. Genetics, 2003

Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1.

Foletta VC et al.

The Journal of Cell Biology, 2003

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD et al.

American Journal of Human Genetics, 2001

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

Deng Z et al.

American Journal of Human Genetics, 2000

Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Zhang X et al.

Pulmonary Circulation, 0

34966542 (PubMed )
Supplement: sj-pdf-7-pul-10.1177_20458940211044577.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."