Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate (scientific article)

Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain

Q28591587

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Q28943468

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

Q29400573

The ADAMTS metalloproteinases

Q29544428

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Q29614870

A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence

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ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage

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Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura

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Haploview: Visualization and analysis of SNP genotype data

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Cancer risk in persons with oral cleft--a population-based study of 8,093 cases

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A knowledge-based weighting framework to boost the power of genome-wide association studies

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Development and evaluation of canine reference genes for accurate quantification of gene expression.

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Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs.

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A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

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Estimates of the economic costs of birth defects

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A versatile gene-based test for genome-wide association studies

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The impact of orofacial clefts on quality of life and healthcare use and costs

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Interference of nonsense mutations with eukaryotic messenger RNA stability

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AXIS inhibition protein 2, orofacial clefts and a family history of cancer

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Long term follow up study of survival associated with cleft lip and palate at birth

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Risk of breast cancer in families with cleft lip and palate

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Genetics of nonsyndromic orofacial clefts

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Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark

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The proximal carboxyl-terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of von Willebrand factor.

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ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression.

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Genetics of cleft lip and cleft palate.

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Extensive and breed-specific linkage disequilibrium in Canis familiaris

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Updating the epidemiology of cleft lip with or without cleft palate

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Potential economic benefit of cleft lip and palate repair in sub-Saharan Africa

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mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

Q40465637

Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13.

Q40641838

Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation

Q41977047

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Q42959854

Suppression of the nonsense mutation in homozygous beta 0 thalassaemia

Q44075697

Incidence of cleft lip and palate in beagles

Q44355879

On optimal gene-based analysis of genome scans

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Nonsyndromic cleft lip and palate in boxer dogs: evidence of monogenic autosomal recessive inheritance

Q45803011

P275

Creative Commons Attribution 4.0 International

copyrighted

issue

main subject

genome-wide association study

Q1098876

cleft lip

Q12050056

P304

page(s)

e1005059

P577

publication date

2015-03-23

P1433

published in

PLOS Genetics

Q1893441

P1476

title

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate

P478

volume

Reverse relations

cites work (P2860)

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P356	DOI	10.1371/JOURNAL.PGEN.1005059
P932	PMC publication ID	4370697
P698	PubMed publication ID	25798845