(Q36707096)

15 August 2017

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

1 reference

15 August 2017

1 reference

Janson J White

1

0 references

Alexander Hoischen

3

object named as

Alexander Hoischen

1 reference

15 August 2017

15

James R Lupski

1 reference

15 August 2017

16

Han G Brunner

1 reference

15 August 2017

11

Richard A Gibbs

1 reference

15 August 2017

10

Donna M Muzny

1 reference

15 August 2017

8

Marloes Steehouwer

1 reference

15 August 2017

6

Alper Gezdirici

1 reference

15 August 2017

Baylor-Hopkins Center for Mendelian Genomics

12

object named as

Baylor-Hopkins Center for Mendelian Genomics

1 reference

15 August 2017

Juliana F Mazzeu

2

1 reference

15 August 2017

Yavuz Bayram

4

1 reference

15 August 2017

Marjorie Withers

5

1 reference

15 August 2017

Virginia Kimonis

7

1 reference

15 August 2017

Shalini N Jhangiani

9

1 reference

15 August 2017

Bregje W M van Bon

13

1 reference

15 August 2017

V Reid Sutton

14

1 reference

15 August 2017

Claudia M B Carvalho

17

1 reference

15 August 2017

language of work or name

English

0 references

publication date

24 February 2016

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

98

1 reference

15 August 2017

553-561

1 reference

15 August 2017

3

1 reference

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

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Dishevelled C-terminus: prolyl and histidinyl motifs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Wnt-dependent assembly of supermolecular Dishevelled-3-based complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

WNT5A mutations in patients with autosomal dominant Robinow syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Wnt/beta-catenin signaling: components, mechanisms, and diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Differential mediation of the Wnt canonical pathway by mammalian Dishevelleds-1, -2, and -3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Wnt/beta-catenin signaling in development and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Human dishevelled genes constitute a DHR-containing multigene family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

A newly recognized dwarfing syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

The DIX domain of Dishevelled confers Wnt signaling by dynamic polymerization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

JNK functions in the non-canonical Wnt pathway to regulate convergent extension movements in vertebrates

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800044

A role for Wnts in morpho-genesis and tissue polarity

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26924530

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26924530

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26924530

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.01.005

1 reference

15 August 2017

1 reference

15 August 2017

1 reference