(Q35550184)

8 August 2017

1 reference

title

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family (English)

1 reference

8 August 2017

developmental disorder

1 reference

Charis Eng

2

0 references

author name string

Kristin A Waite

series ordinal

1

1 reference

8 August 2017

1 October 2003

1 reference

8 August 2017

Nature Reviews Genetics

1 reference

8 August 2017

4

1 reference

8 August 2017

763-773

1 reference

8 August 2017

10

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg1178

8 August 2017

0 references

cites work

Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

1 reference

Malignant cells, directors of the malignant process: role of transforming growth factor-beta

21 January 2018

1 reference

TGF-beta/SMAD signaling and its involvement in tumor progression.

21 January 2018

1 reference

TGF-beta signaling by Smad proteins

21 January 2018

1 reference

Transforming growth factor beta signaling mediators and modulators

21 January 2018

1 reference

TGF-beta signaling in tumor suppression and cancer progression

21 January 2018

1 reference

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

21 January 2018

1 reference

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

21 January 2018

1 reference

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

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

21 January 2018

1 reference

Inhibition of rat vascular smooth muscle proliferation in vitro and in vivo by bone morphogenetic protein-2.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

How cells read TGF-beta signals

21 January 2018

1 reference

The ever-increasing complexity of TGF-beta signaling

21 January 2018

1 reference

Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension

21 January 2018

1 reference

Hereditary haemorrhagic telangiectasia: a clinical analysis

21 January 2018

1 reference

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

21 January 2018

1 reference

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.

21 January 2018

1 reference

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

21 January 2018

1 reference

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

21 January 2018

1 reference

Disease-associated mutations in conserved residues of ALK-1 kinase domain

21 January 2018

1 reference

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

21 January 2018

1 reference

Transforming growth factor beta receptor signaling and endocytosis are linked through a COOH terminal activation motif in the type I receptor

21 January 2018

1 reference

Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II

21 January 2018

1 reference

Endoglin modulates cellular responses to TGF-beta 1.

21 January 2018

1 reference

Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily

21 January 2018

1 reference

Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative

21 January 2018

1 reference

Expression of normal and truncated forms of human endoglin

21 January 2018

1 reference

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

21 January 2018

1 reference

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function

21 January 2018

1 reference

A murine model of hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

1 reference

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

21 January 2018

1 reference

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

21 January 2018

1 reference

Familial juvenile polyposis coli; increased risk of colorectal cancer

21 January 2018

1 reference

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot

21 January 2018

1 reference

A structural basis for mutational inactivation of the tumour suppressor Smad4

21 January 2018

1 reference

Smad proteins exist as monomers in vivo and undergo homo- and hetero-oligomerization upon activation by serine/threonine kinase receptors

21 January 2018

1 reference

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

21 January 2018

1 reference

Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters

21 January 2018

1 reference

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene

21 January 2018

1 reference

Will the real Cowden syndrome please stand up: revised diagnostic criteria

21 January 2018

1 reference

BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis

21 January 2018

1 reference

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

21 January 2018

1 reference

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

21 January 2018

1 reference

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

21 January 2018

1 reference

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 January 2018

1 reference

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

21 January 2018

1 reference

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

21 January 2018

1 reference

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

21 January 2018

1 reference

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

21 January 2018

1 reference

Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

31 March 2020

1 reference

Bone morphogenetic protein-7 (osteogenic protein-1) inhibits smooth muscle cell proliferation and stimulates the expression of markers that are characteristic of SMC phenotype in vitro

31 March 2020

1 reference

Hereditary hemorrhagic telangiectasia

31 March 2020

1 reference

Pulmonary arteriovenous malformations: options for management

31 March 2020

1 reference

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

31 March 2020

1 reference

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

31 March 2020

1 reference

Protein modules as organizers of membrane structure

31 March 2020

1 reference

The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains

31 March 2020

1 reference

Malignant potential in intestinal juvenile polyposis syndromes

31 March 2020

1 reference

The risk of gastrointestinal carcinoma in familial juvenile polyposis

31 March 2020

1 reference

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

31 March 2020

1 reference

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

31 March 2020

1 reference

PTEN germ-line mutations in juvenile polyposis coli

31 March 2020

1 reference

Molecular detection of constitutional deletions in patients with retinoblastoma

31 March 2020

1 reference

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

31 March 2020

1 reference

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRG1178

1 reference

8 August 2017

1 reference

PubMed ID

14526373