From tall to short: the role of TGFβ signaling in growth and its disorders (Q38026013)

27 August 2017

From tall to short: the role of TGFβ signaling in growth and its disorders (English)

1 reference

27 August 2017

Valérie Cormier-Daire

series ordinal

2

object named as

Valérie Cormier-Daire

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Carine Le Goff

object named as

Carine Le Goff

series ordinal

1

0 references

publication date

12 July 2012

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

27 August 2017

9

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based on heuristic

inferred from page(s)

published in

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27 August 2017

160C

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27 August 2017

3

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27 August 2017

145-153

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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

27 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Making sense of latent TGFbeta activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Signaling pathways in human skeletal dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Myhre syndrome: new reports, review, and differential diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Fibrillin-1 regulates the bioavailability of TGFbeta1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Processing of transforming growth factor beta 1 precursor by human furin convertase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Specificity and versatility in tgf-beta signaling through Smads

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

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/10.1002%2FAJMG.C.31337

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

The oncoprotein Evi-1 represses TGF-beta signalling by inhibiting Smad3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

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/10.1002%2FAJMG.C.31337

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

The logic of TGFbeta signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Heterozygous TGFBR2 mutations in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Pharmacologic inhibition of the TGF-beta type I receptor kinase has anabolic and anti-catabolic effects on bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

TGF-beta signaling: a tale of two responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Microenvironmental regulation by fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Integrin-mediated activation of latent transforming growth factor beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Extracellular control of TGFbeta signalling in vascular development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31337

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31337

1 reference

release_65vilbr5ljhxfc3zrqc2dmmqly

27 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/65vilbr5ljhxfc3zrqc2dmmqly

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

22791552

1 reference

PubMed ID

22791552