(Q60913135)

English

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds

scientific article published on 06 December 2018

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Europe PubMed Central

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12 April 2020

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds (English)

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12 April 2020

Robinow syndrome

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whole genome sequencing

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based on heuristic

inferred from title

1

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12 April 2020

Katherine Lucot

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12 April 2020

Sara E Konopelski

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12 April 2020

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12 April 2020

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12 April 2020

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12 April 2020

Hsin-Yi Henry Ho

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12 April 2020

Danika L Bannasch

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12 April 2020

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Peter J Dickinson

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12 April 2020

Beverly K Sturges

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12 April 2020

Karen L Vernau

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12 April 2020

Shannon Choi

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12 April 2020

Sophie Döring

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12 April 2020

Frank J M Verstraete

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12 April 2020

Eric G Johnson

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12 April 2020

Robert B Rebhun

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12 April 2020

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6 December 2018

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12 April 2020

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12 April 2020

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12 April 2020

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12 April 2020

e1007850

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12 April 2020

copyright license

Creative Commons Attribution 4.0 International

6 December 2018

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April 2022 Public Data File from Crossref

copyright status

0 references

Congenital Spinal Malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital heart defects in small animals

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiologic and genetic studies of congenital heart disease in the dog

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleft palate in domestic animals: epidemiologic features.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of a mouse homolog of the Drosophila segment polarity gene dishevelled

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conservation of dishevelled structure and function between flies and mice: isolation and characterization of Dvl2

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of mouse Dishevelled genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human dishevelled genes constitute a DHR-containing multigene family

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A third-generation lentivirus vector with a conditional packaging system

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dishevelled: at the crossroads of divergent intracellular signaling pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic control for association studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic basis for skeletal diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt proteins induce dishevelled phosphorylation via an LRP5/6- independent mechanism, irrespective of their ability to stabilize beta-catenin

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The developmental biology of Dishevelled: an enigmatic protein governing cell fate and cell polarity

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome sequence, comparative analysis and haplotype structure of the domestic dog

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt-3a utilizes a novel low dose and rapid pathway that does not require casein kinase 1-mediated phosphorylation of Dvl to activate beta-catenin

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt-5a induces Dishevelled phosphorylation and dopaminergic differentiation via a CK1-dependent mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WNT signaling pathway and stem cell signaling network

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental Abnormalities of the Canine Skull.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient mapping of mendelian traits in dogs through genome-wide association

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt5a modulates glycogen synthase kinase 3 to induce phosphorylation of receptor tyrosine kinase Ror2

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt/beta-catenin signaling regulates cranial base development and growth.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt signal transduction pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited defects in pedigree dogs. Part 1: disorders related to breed standards

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WNT5A mutations in patients with autosomal dominant Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proportion of litters of purebred dogs born by caesarean section

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ror2/Frizzled complex mediates Wnt5a-induced AP-1 activation by regulating Dishevelled polymerization

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple genetic architecture underlies morphological variation in dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thoracic kyphosis associated with hemivertebra

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic analyses of modern dog breeds

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt5a-Ror-Dishevelled signaling constitutes a core developmental pathway that controls tissue morphogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential closure of the spheno-occipital synchondrosis in syndromic craniosynostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation of BMP3 contributes to dog breed skull diversity

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt signaling and cardiac differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chapter 11: Genome-wide association studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postmortem evaluation of 435 cases of intracranial neoplasia in dogs and relationship of neoplasm with breed, age, and body weight

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trimmomatic: a flexible trimmer for Illumina sequence data

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of dishevelled-3 phosphorylation identifies distinct mechanisms driven by casein kinase 1ϵ and frizzled5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Genetic-Pathophysiological Framework for Craniosynostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robinow Syndrome: A Rare Case Report and Review of Literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Utilizing the Dog Genome in the Search for Novel Candidate Genes Involved in Glioma Development-Genome Wide Association Mapping followed by Targeted Massive Parallel Sequencing Identifies a Strongly Associated Locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal Aberrations in Canine Gliomas Define Candidate Genes and Common Pathways in Dogs and Humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ensembl Variant Effect Predictor

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of thoracic vertebral malformations in French bulldogs, Pugs and English bulldogs with and without associated neurological deficits

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt5a and its signaling pathway in angiogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kinesin superfamily protein Kif26b links Wnt5a-Ror signaling to the control of cell and tissue behaviors in vertebrates.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the influence of kyphosis and scoliosis on intervertebral disc extrusion in French bulldogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/30521570

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1007850

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30521570%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30521570%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30521570%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

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