(Q55538201)

English

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

scientific article published on 3 July 2013

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23824657%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23824657%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

distal arthrogryposis

1 reference

based on heuristic

inferred from title

2

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4 March 2020

Judith Goslin Hall

13

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4 March 2020

Otto Hannes Vogel

11

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4 March 2020

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Hugh Young Rienhoff

1

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4 March 2020

Rachel Morissette

3

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4 March 2020

Irina Khrebtukova

4

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4 March 2020

Jonathan Melnick

5

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4 March 2020

Shujun Luo

6

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4 March 2020

Nan Leng

7

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4 March 2020

Yeon-Jin Kim

8

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4 March 2020

Gary Schroth

9

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4 March 2020

John Westwick

10

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4 March 2020

Nazli McDonnell

12

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4 March 2020

Malcolm Whitman

14

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4 March 2020

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publication date

3 July 2013

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4 March 2020

American Journal of Medical Genetics

1 reference

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4 March 2020

161A

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4 March 2020

8

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4 March 2020

2040-2046

1 reference

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4 March 2020

Induction and molecular signature of pathogenic TH17 cells

1 reference

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

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15 July 2018

Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

BMP signalling permits population expansion by preventing premature myogenic differentiation in muscle satellite cells

1 reference

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15 July 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

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15 July 2018

The basics of epithelial-mesenchymal transition

1 reference

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15 July 2018

Transforming growth factor beta-induced Smad1/5 phosphorylation in epithelial cells is mediated by novel receptor complexes and is essential for anchorage-independent growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Myostatin promotes the terminal differentiation of embryonic muscle progenitors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Regulation of muscle mass by myostatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

TGFbeta3 signaling activates transcription of the LEF1 gene to induce epithelial mesenchymal transformation during mouse palate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Nodal signals to Smads through Cripto-dependent and Cripto-independent mechanisms

1 reference

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15 July 2018

N-Cadherin, a cell adhesion molecule involved in establishment of embryonic left-right asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

The crystal structure of TGF-beta 3 and comparison to TGF-beta 2: implications for receptor binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Transforming growth factor-beta 3 is required for secondary palate fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Immunohistochemical localization of TGF beta 1, TGF beta 2, and TGF beta 3 in the mouse embryo: expression patterns suggest multiple roles during embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Site-directed mutagenesis of glycosylation sites in the transforming growth factor-beta 1 (TGF beta 1) and TGF beta 2 (414) precursors and of cysteine residues within mature TGF beta 1: effects on secretion and bioactivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

15 July 2018

Bmp signaling at the tips of skeletal muscles regulates the number of fetal muscle progenitors and satellite cells during development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

12 August 2018

Myostatin imposes reversible quiescence on embryonic muscle precursors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

12 August 2018

Endogenous patterns of TGFbeta superfamily signaling during early Xenopus development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3885154

12 August 2018

In situ hybridization analysis of TGF beta 3 RNA expression during mouse development: comparative studies with TGF beta 1 and beta 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/23824657

12 December 2020

based on heuristic

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10.1002/AJMG.A.36056

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23824657%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23824657%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23824657%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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