(Q43173796)

15 November 2017

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

1 reference

15 November 2017

Joy D Cogan

1

1 reference

15 November 2017

Michael W Pauciulo

2

1 reference

15 November 2017

Amy P Batchman

3

1 reference

15 November 2017

Melissa A Prince

4

1 reference

15 November 2017

Ivan M Robbins

5

1 reference

15 November 2017

Lora K Hedges

6

1 reference

15 November 2017

Krista C Stanton

7

1 reference

15 November 2017

Lisa A Wheeler

8

1 reference

15 November 2017

John A Phillips

9

1 reference

15 November 2017

James E Loyd

10

1 reference

15 November 2017

William C Nichols

11

1 reference

15 November 2017

language of work or name

English

0 references

publication date

25 May 2006

1 reference

American Journal of Respiratory and Critical Care Medicine

15 November 2017

1 reference

15 November 2017

174

1 reference

15 November 2017

5

1 reference

15 November 2017

590-598

1 reference

Changing the prognosis of pulmonary arterial hypertension: impact of medical therapy

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Pulmonary arterial hypertension: evaluation of the newly diagnosed patient.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Genetics of pulmonary arterial hypertension: current and future implications

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Pathologic assessment of vasculopathies in pulmonary hypertension

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Clinical classification of pulmonary hypertension.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

ELXR: a resource for rapid exon-directed sequence analysis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

How cells read TGF-beta signals

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Primary pulmonary hypertension. A national prospective study

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648061

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

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16728714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1164/RCCM.200602-165OC

1 reference

15 November 2017

1 reference

15 November 2017

1 reference