Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. (Q52997994)

10 May 2018

title

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

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10 May 2018

author

Rajiv Machado

1

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10 May 2018

Werner Seeger

10

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Nazzareno Galié

22

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Richard C Trembath

33

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Victoria James

Victoria James

3

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Grzegorz Szewczyk

Grzegorz Szewczyk

19

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Anna Fijałkowska

Anna Fijalkowska

18

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Horst Olschewski

Horst Olschewski

12

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Olivier Sitbon

Olivier Sitbon

29

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Marc Humbert

Marc Humbert

27

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Nicholas W Morrell

Nicholas W Morrell

32

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Gérald Simonneau

28

Gerald Simonneau

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10 May 2018

Adam Torbicki

17

Adam Torbicki

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10 May 2018

Oliver Eickelberg

11

Oliver Eickelberg

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10 May 2018

Florence Coulet

31

Florence Coulet

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10 May 2018

Florent Soubrier

30

Florent Soubrier

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10 May 2018

Micheala A Aldred

2

Micheala A Aldred

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10 May 2018

Bart J. Janssen

8

Bart Janssen

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10 May 2018

author name string

Rachel E Harrison

4

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10 May 2018

Bhakti Patel

5

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10 May 2018

Edward C Schwalbe

6

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Ekkehard Gruenig

7

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Rolf Koehler

9

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C Gregory Elliott

13

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Eric Glissmeyer

14

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10 May 2018

John Carlquist

15

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Miryoung Kim

16

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Jasmine Parma

20

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Marc J Abramowicz

21

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Hiroko Morisaki

23

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10 May 2018

Shingo Kyotani

24

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Norifumi Nakanishi

25

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Takayuki Morisaki

26

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10 May 2018

publication date

1 February 2006

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10 May 2018

published in

Human Mutation

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10 May 2018

volume

27

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10 May 2018

issue

2

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10 May 2018

page(s)

121-132

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10 May 2018

p38 mitogen-activated protein kinase can be involved in transforming growth factor beta superfamily signal transduction in Drosophila wing morphogenesis

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

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Histopathology of primary pulmonary hypertension

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Primary pulmonary hypertension. A national prospective study

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Microsatellite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension

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Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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7 January 2021

BMP type II receptor is required for gastrulation and early development of mouse embryos

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7 January 2021

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

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7 January 2021

BMP signaling is required for septation of the outflow tract of the mammalian heart

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Distinct endocytic pathways regulate TGF-β receptor signalling and turnover

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Amfepramone does not cause primary pulmonary hypertension

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Coancestry in apparently sporadic primary pulmonary hypertension

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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7 January 2021

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

TGF-beta signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Clinical classification of pulmonary hypertension.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Increased susceptibility to pulmonary hypertension in heterozygous BMPR2-mutant mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Lung biopsy specimens in the evaluation of pulmonary vascular disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Atomic structure of the MAP kinase ERK2 at 2.3 A resolution

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension

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https://api.crossref.org/works/10.1002%2FHUMU.20285

7 January 2021

Identifiers

DOI

10.1002/HUMU.20285

1 reference

10 May 2018

1 reference

10 May 2018