Mutations of TGFbeta signaling molecules in human disease (Q36606635)

15 August 2017

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title

Mutations of TGFbeta signaling molecules in human disease (English)

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15 August 2017

2

Rosemary J Akhurst

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15 August 2017

Kelly A Harradine

1

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PubMed ID

17008304

15 August 2017

language of work or name

English

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publication date

1 January 2006

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15 August 2017

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15 August 2017

38

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15 August 2017

6

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15 August 2017

403-414

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Nodal signalling in vertebrate development.

15 August 2017

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https://api.crossref.org/works/10.1080%2F07853890600919911

Smads and early developmental signaling by the TGFbeta superfamily

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Bone morphogenetic proteins in development

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

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

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Cytostatic and apoptotic actions of TGF-beta in homeostasis and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Making sense of latent TGFbeta activation

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Emilin1 links TGF-beta maturation to blood pressure homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

TGFbeta signaling in growth control, cancer, and heritable disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

DRAGON, a bone morphogenetic protein co-receptor

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Repulsive guidance molecule (RGMa), a DRAGON homologue, is a bone morphogenetic protein co-receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Characterization of type I receptors for transforming growth factor-beta and activin

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Targeted disruption in murine cells reveals variable requirement for Smad4 in transforming growth factor beta-related signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Smad2 transduces common signals from receptor serine-threonine and tyrosine kinases

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600919911

Inactivation of smad-transforming growth factor beta signaling by Ca(2+)-calmodulin-dependent protein kinase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Ski and SnoN: negative regulators of TGF-beta signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Transforming growth factor-beta1 to the bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Association of the C-509-->T polymorphism, alone of in combination with the T869-->C polymorphism, of the transforming growth factor-beta1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Heterozygous TGFBR2 mutations in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Functional characterization and genetic mapping of alk8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

ALK2 functions as a BMP type I receptor and induces Indian hedgehog in chondrocytes during skeletal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Nonoverlapping expression patterns of ALK1 and ALK5 reveal distinct roles of each receptor in vascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Crystal structure of BMP-9 and functional interactions with pro-region and receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Arteriovenous malformations in mice lacking activin receptor-like kinase-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Primary pulmonary hypertension. A national prospective study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Nodal stability determines signaling range.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Myostatin mutation associated with gross muscle hypertrophy in a child

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Alterations in components of the TGF-beta superfamily signaling pathways in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Induction of intrahepatic cholangiocellular carcinoma by liver-specific disruption of Smad4 and Pten in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Genetic variants of Tgfb1 act as context-dependent modifiers of mouse skin tumor susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

TGF beta inhibition for cancer therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

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/10.1080%2F07853890600919911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600919911

10.1080/07853890600919911

21 January 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

PubMed ID

17008304