Heritable forms of pulmonary arterial hypertension (Q33915567)

30 July 2017

title

Heritable forms of pulmonary arterial hypertension (English)

1 reference

30 July 2017

Eric D Austin

1

1 reference

30 July 2017

James E Loyd

series ordinal

2

1 reference

30 July 2017

publication date

13 September 2013

1 reference

Seminars in Respiratory and Critical Care Medicine

30 July 2017

published in

1 reference

30 July 2017

volume

34

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30 July 2017

issue

5

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30 July 2017

page(s)

568-580

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A novel channelopathy in pulmonary arterial hypertension

30 July 2017

cites work

1 reference

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Estrogen exposure, obesity and thyroid disease in women with severe pulmonary hypertension

5 July 2018

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5 July 2018

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5 July 2018

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Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration

5 July 2018

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5 July 2018

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Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

5 July 2018

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Clinical and translational implications of the caveolin gene family: lessons from mouse models and human genetic disorders

5 July 2018

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A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

5 July 2018

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Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

5 July 2018

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Molecular mechanisms of pulmonary arterial hypertension: role of mutations in the bone morphogenetic protein type II receptor

5 July 2018

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5 July 2018

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Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance

5 July 2018

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What patients and their relatives think about testing for BMPR2

5 July 2018

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Caveolae and endothelial dysfunction: filling the caves in cardiovascular disease

5 July 2018

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Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies

5 July 2018

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Role of the TGF-beta/Alk5 signaling pathway in monocrotaline-induced pulmonary hypertension

5 July 2018

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

5 July 2018

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Caveolae as organizers of pharmacologically relevant signal transduction molecules

5 July 2018

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Reexpression of caveolin-1 in endothelium rescues the vascular, cardiac, and pulmonary defects in global caveolin-1 knockout mice

5 July 2018

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Caveolae and caveolin-1: novel potential targets for the treatment of cardiovascular disease

5 July 2018

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Pulmonary artery hypertension: caveolin-1 and eNOS interrelationship: a new perspective

5 July 2018

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The multiple faces of caveolae

5 July 2018

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Genes and pulmonary arterial hypertension

5 July 2018

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Pulmonary hypertension due to BMPR2 mutation: a new paradigm for tissue remodeling?

5 July 2018

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Novel mechanism of endothelial nitric oxide synthase activation mediated by caveolae internalization in endothelial cells

5 July 2018

1 reference

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Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling

5 July 2018

1 reference

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Nitric oxide, caveolae, and vascular pathology

5 July 2018

1 reference

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

5 July 2018

1 reference

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An evidence-based approach to the management of pulmonary arterial hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Caveolin-1 and regulation of cellular cholesterol homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway

5 July 2018

1 reference

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Caveolins and the regulation of endothelial nitric oxide synthase in the heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Idiopathic pulmonary hypertension: what did we learn from genes?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Genetics of pulmonary arterial hypertension: recent data and practical applications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

The BMP type II receptor is located in lipid rafts, including caveolae, of pulmonary endothelium in vivo and in vitro

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

5 July 2018

1 reference

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Repeat instability: mechanisms of dynamic mutations

5 July 2018

1 reference

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The double regulation of endothelial nitric oxide synthase by caveolae and caveolin: a paradox solved through the study of angiogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Genetics of pulmonary arterial hypertension: current and future implications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Dynamics and interaction of caveolin-1 isoforms with BMP-receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Role of caveolae and caveolins in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Genetic basis of pulmonary arterial hypertension: current understanding and future directions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Clinical classification of pulmonary hypertension.

5 July 2018

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

5 July 2018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Caveolin regulation of endothelial function

5 July 2018

1 reference

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Smad-dependent and Smad-independent pathways in TGF-beta family signalling

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Lack of association between angiotensin converting enzyme (ACE) genotype, serum ACE activity, and haemodynamics in patients with primary pulmonary hypertension.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Bone morphogenetic proteins, genetics and the pathophysiology of primary pulmonary hypertension

5 July 2018

1 reference

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Genetics of primary pulmonary hypertension

5 July 2018

1 reference

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Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins

5 July 2018

1 reference

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Loss of caveolae, vascular dysfunction, and pulmonary defects in caveolin-1 gene-disrupted mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the nos caveolin binding domain in vivo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Targeting of nitric oxide synthase to endothelial cell caveolae via palmitoylation: implications for nitric oxide signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Appetite-suppressant drugs and the risk of primary pulmonary hypertension. International Primary Pulmonary Hypertension Study Group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Primary pulmonary hypertension. A national prospective study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Caveolin, a protein component of caveolae membrane coats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

5 July 2018

1 reference

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

29 October 2018

1 reference

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Increased smooth muscle cell expression of caveolin-1 and caveolae contribute to the pathophysiology of idiopathic pulmonary arterial hypertension.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Genetic association of the serotonin transporter in pulmonary arterial hypertension.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Serotonin transporter gene polymorphism in a cohort of German patients with idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Human herpes virus 8 in HIV and non-HIV infected patients with pulmonary arterial hypertension in France

29 October 2018

1 reference

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Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hypertension: increased frequency and association with preserved haemodynamics.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Dysfunctional Smad Signaling Contributes to Abnormal Smooth Muscle Cell Proliferation in Familial Pulmonary Arterial Hypertension

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Investigation of Second Genetic Hits at the BMPR2 Locus as a Modulator of Disease Progression in Familial Pulmonary Arterial Hypertension

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102304

Primary pulmonary hypertension

29 October 2018

1 reference

12 December 2020

Familial primary pulmonary hypertension: clinical patterns

1 reference

12 December 2020

Primary pulmonary hypertension

1 reference

12 December 2020

Screening, early detection, and diagnosis of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines

1 reference

12 December 2020

Enhanced Hypoxic Pulmonary Vasoconstriction in Families of Adults or Children With Idiopathic Pulmonary Arterial Hypertension

1 reference

12 December 2020

BMPR2 mutation and outcome in pulmonary arterial hypertension: clinical relevance to physicians and patients

1 reference

12 December 2020

Purification and Characterisation of Cerebellins from Human and Porcine Cerebellum

1 reference

12 December 2020

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

Vascular lesions in women taking oral contraceptives

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

Familial Primary Pulmonary Hypertension Locus Mapped to Chromosome 2q31-q32

1 reference

12 December 2020

Hormone replacement therapy: a possible risk factor in carriers of familial primary pulmonary hypertension

1 reference

12 December 2020

Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution

1 reference

12 December 2020

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension

1 reference

12 December 2020

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

1 reference

12 December 2020

Pulmonary hypertension

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

Primary pulmonary hypertension. I. Clinical and hemodynamic study

1 reference

12 December 2020

Caveolin-1 regulates BMPRII localization and signaling in vascular smooth muscle cells

1 reference

12 December 2020

Detection of Familial Primary Pulmonary Hypertension by Genetic Testing

1 reference

12 December 2020

Identifiers

DOI

10.1055/S-0033-1355443

1 reference

release_4aefi5hcgvdijevdsbgpsuuhxa

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4aefi5hcgvdijevdsbgpsuuhxa

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4102304

1 reference

30 July 2017

1 reference