(Q38179984)

30 August 2017

title

The genetic basis of pulmonary arterial hypertension (English)

1 reference

30 August 2017

main subject

arterial hypertension

0 references

author name string

Lijiang Ma

series ordinal

1

1 reference

30 August 2017

Wendy K Chung

series ordinal

2

1 reference

30 August 2017

publication date

21 January 2014

1 reference

30 August 2017

1 reference

30 August 2017

volume

133

1 reference

30 August 2017

issue

5

1 reference

30 August 2017

page(s)

471-479

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-014-1419-3

30 August 2017

exact match

0 references

cites work

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Somatic chromosome abnormalities in the lungs of patients with pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Epigenetic attenuation of mitochondrial superoxide dismutase 2 in pulmonary arterial hypertension: a basis for excessive cell proliferation and a new therapeutic target.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

EIF2AK4 mutations in pulmonary capillary hemangiomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Survival in patients with primary pulmonary hypertension. Results from a national prospective registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

The changing picture of patients with pulmonary arterial hypertension in the United States: how REVEAL differs from historic and non-US Contemporary Registries

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Three-finger toxin fold for the extracellular ligand-binding domain of the type II activin receptor serine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Two-Pore Domain K Channel, TASK-1, in Pulmonary Artery Smooth Muscle Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Combined antisense and pharmacological approaches implicate hTASK as an airway O(2) sensing K(+) channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary arterial hypertension in France: results from a national registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Survival in patients with idiopathic, familial, and anorexigen-associated pulmonary arterial hypertension in the modern management era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

What patients and their relatives think about testing for BMPR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Parker B. Francis Lecture. Genetics and gene expression in pulmonary hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

A novel channelopathy in pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Genetics and genomics of pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Increased pulmonary vascular resistance and defective pulmonary artery filling in caveolin-1-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Disruption of endothelial-cell caveolin-1alpha/raft scaffolding during development of monocrotaline-induced pulmonary hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Src tyrosine kinase is crucial for potassium channel function in human pulmonary arteries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Prognostic factors for survival in human immunodeficiency virus-associated pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Regulation of the resting potential of rabbit pulmonary artery myocytes by a low threshold, O2-sensing potassium current

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Primary pulmonary hypertension. A national prospective study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Caveolae and caveolin in transmembrane signaling: Implications for human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Genes and pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Severe pulmonary hypertension in Ullrich-Noonan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Scimitar syndrome: a European Congenital Heart Surgeons Association (ECHSA) multicentric study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Insulin resistance in pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Is Pulmonary Arterial Hypertension in Neurofibromatosis Type 1 Secondary to a Plexogenic Arteriopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1419-3

Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the In

21 January 2018

1 reference

12 December 2020

Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance

1 reference

12 December 2020

Mutations of bone morphogenetic protein receptor type II are not found in patients with pulmonary hypertension and underlying connective tissue diseases

1 reference

12 December 2020

Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome

1 reference

12 December 2020

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension

1 reference

12 December 2020

Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension

1 reference

12 December 2020

The clinical course of cardiac disease in Down's syndrome

1 reference

12 December 2020

Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension

1 reference

12 December 2020

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

1 reference

12 December 2020

Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32

1 reference

12 December 2020

Impact of TASK-1 in Human Pulmonary Artery Smooth Muscle Cells

1 reference

12 December 2020

Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33

1 reference

12 December 2020

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension

1 reference

12 December 2020

Caveolin-1 null mice are viable but show evidence of hyperproliferative and vascular abnormalities

1 reference

12 December 2020

Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32

1 reference

12 December 2020

Post-menopause is the main risk factor for developing isolated pulmonary hypertension in systemic sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-014-1419-3

Identifiers

DOI

1 reference

Dimensions Publication ID

30 August 2017

1015955969

0 references

Fatcat ID

release_vzzkzvr635d4xguaee7y75tbcm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vzzkzvr635d4xguaee7y75tbcm

24 November 2022

mapped directly with Wikidata item

1 reference