(Q33700360)

English

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

object named as

Aaron K Wong

4

0 references

object named as

Karl W Broman

10

0 references

author name string

Hannah L Bader

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Alison L Ruhe

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Lauren W Wang

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kari F Walsh

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Rebecca A Packer

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Jonathan Mitelman

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kathryn R Robertson

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dennis P O'Brien

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

G Diane Shelton

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Suneel S Apte

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Mark W Neff

13

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

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publication date

17 September 2010

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution 4.0 International

17 September 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms

1 reference

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Genetic and molecular aspects of acromelic dysplasia

1 reference

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21 June 2018

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

1 reference

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21 June 2018

ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

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21 June 2018

The molecular genetics of Marfan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Fibrillins 1 and 2 perform partially overlapping functions during aortic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Making sense of latent TGFbeta activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

Extracellular fibrillar structure of latent TGF beta binding protein-1: role in TGF beta-dependent endothelial-mesenchymal transformation during endocardial cushion tissue formation in mouse embryonic heart

1 reference

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Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941456

21 June 2018

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

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21 June 2018

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

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21 June 2018

Fibronectin is required for integrin alphavbeta6-mediated activation of latent TGF-beta complexes containing LTBP-1.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012817

21 January 2018

Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012817

21 January 2018

Alternatives to blood as a source of DNA for large-scale scanning studies of canine genome linkages

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012817

21 January 2018

DOGSET: pre-designed primer sets for fine-scale mapping and DNA sequence interrogation in the dog.

1 reference

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21 January 2018

Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012817

21 January 2018

Association testing with Mendel.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0012817

21 January 2018

Geleophysic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20862248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping

1 reference

https://pubmed.ncbi.nlm.nih.gov/20862248

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0012817

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2010PLoSO...512817B

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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