Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.R211*
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BMPR2

NM_001204.7:p.R211*

Associated Papers

The association between STAT4 polymorphism and pulmonary arterial hypertension in Chinese patients with primary Sjögren's syndrome.

Hui M et al.

Clinical Rheumatology, 2025

Role of BMPR2 Mutation in Lung Organoid Differentiation.

Jiang S et al.

Biomedicines, 2025

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_

Case Report: Pulmonary arterial hypertension in children caused by a new mutation in the BMPR2 gene.

Tang T et al.

Frontiers in Pediatrics, 2025

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

KinaseMD: kinase mutations and drug response database.

Hu R et al.

Nucleic Acids Research, 2021

33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort.

Jang AY et al.

Plos One, 2020

A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Barozzi C et al.

Scientific Reports, 2019

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

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf

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

Ghigna MR et al.

The European Respiratory Journal, 2016

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Song J et al.

Clinical Science (london, England : 1979), 2016

BMPRII influences the response of pulmonary microvascular endothelial cells to inflammatory mediators.

Vengethasamy L et al.

Pflugers Archiv : European Journal of Physiology, 2016

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

Chida A et al.

The American Journal of Cardiology, 2012

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

Pfarr N et al.

Respiratory Research, 2011

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

Portillo K et al.

Archivos De Bronconeumologia, 2010

Genetics and genomics of pulmonary arterial hypertension.

Machado RD et al.

Journal of the American College of Cardiology, 2009

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

Sztrymf B et al.

American Journal of Respiratory and Critical Care Medicine, 2008

The bone morphogenetic protein pathway is inactivated in the majority of sporadic colorectal cancers.

Kodach LL et al.

Gastroenterology, 2008

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD et al.

American Journal of Respiratory and Critical Care Medicine, 2006

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG et al.

Circulation, 2006

Evolutionary conservation and mutational spectrum of BMPR2 gene.

Wong WK et al.

Gene, 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

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

Humbert M et al.

The European Respiratory Journal, 2002

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

Machado RD et al.

American Journal of Human Genetics, 2001

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

Thomson JR et al.

Journal of Medical 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
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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."