Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. (Q50521211)

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1 April 2020

title

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia (English)

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1 April 2020

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Emma L. Duncan

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1 April 2020

Aideen M McInerney-Leo

1

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Carine Le Goff

2

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Matthew A. Brown

11

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Valérie Cormier-Daire

14

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author name string

Paul J Leo

3

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Patricia Keith

5

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Jessica E Harris

6

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Ruth Steer

7

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Christine Bole-Feysot

8

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Patrick Nitschke

9

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Cay Kielty

10

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Andreas Zankl

12

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language of work or name

English

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publication date

11 April 2016

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Journal of Medical Genetics

1 April 2020

published in

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volume

53

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issue

7

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page(s)

457-464

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

1 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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/10.1136%2FJMEDGENET-2015-103647

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Microenvironmental regulation by fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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/10.1136%2FJMEDGENET-2015-103647

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

LTBPs, more than just an escort service.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Latent TGF-beta binding protein-3 (LTBP-3) requires binding to TGF-beta for secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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/10.1136%2FJMEDGENET-2015-103647

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Degradation of mRNAs that lack a stop codon: a decade of nonstop progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103647

10.1136/JMEDGENET-2015-103647

21 January 2018

Identifiers

DOI

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1 April 2020

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