(Q46581841)

English

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

scientific article published in July 2017

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24 March 2020

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features (English)

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24 March 2020

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haploinsufficiency

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intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

9

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24 March 2020

21

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24 March 2020

Stephen Robertson

37

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24 March 2020

Koen Van Gassen

39

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24 March 2020

A. Micheil Innes

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24 March 2020

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Rolph Pfundt

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24 March 2020

18

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Jane Juusola

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24 March 2020

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Cara M Skraban

1

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24 March 2020

Constance F Wells

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24 March 2020

Preetha Markose

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24 March 2020

Megan T Cho

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24 March 2020

Addie I Nesbitt

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24 March 2020

P Y Billie Au

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24 March 2020

Amber Begtrup

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24 March 2020

John A Bernat

8

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24 March 2020

Kajia Cao

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24 March 2020

Arjan P M de Brouwer

11

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24 March 2020

Elizabeth H Denenberg

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24 March 2020

Ganka Douglas

13

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24 March 2020

Kristin M Gibson

14

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24 March 2020

Katheryn Grand

15

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24 March 2020

Alice Goldenberg

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24 March 2020

Marlies Kempers

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24 March 2020

Esther Kinning

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24 March 2020

Martina M Owens

22

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24 March 2020

Katelyn Payne

23

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24 March 2020

Richard Person

24

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24 March 2020

Amber Stocco

26

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24 March 2020

Claire L S Turner

27

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24 March 2020

Nienke E Verbeek

28

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24 March 2020

Laurence E Walsh

29

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24 March 2020

Taylor C Warner

30

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24 March 2020

Patricia G Wheeler

31

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24 March 2020

Dagmar Wieczorek

32

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24 March 2020

Alisha B Wilkens

33

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24 March 2020

Evelien Zonneveld-Huijssoon

34

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24 March 2020

Tjitske Kleefstra

36

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24 March 2020

Avni Santani

38

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24 March 2020

Matthew A Deardorff

40

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24 March 2020

Deciphering Developmental Disorders Study

35

1 reference

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24 March 2020

language of work or name

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publication date

1 July 2017

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24 March 2020

American Journal of Human Genetics

1 reference

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24 March 2020

101

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24 March 2020

1

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24 March 2020

139-148

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686853%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

1 reference

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24 May 2018

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Upregulated WDR26 serves as a scaffold to coordinate PI3K/ AKT pathway-driven breast cancer cell growth, migration, and invasion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

The Matchmaker Exchange: a platform for rare disease gene discovery

1 reference

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24 May 2018

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases

1 reference

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24 May 2018

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

1 reference

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24 May 2018

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

1 reference

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24 May 2018

Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Current status and new features of the Consensus Coding Sequence database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

WDR26 functions as a scaffolding protein to promote Gβγ-mediated phospholipase C β2 (PLCβ2) activation in leukocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

NMD: a multifaceted response to premature translational termination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

RAD21 mutations cause a human cohesinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

A novel WD-repeat protein, WDR26, inhibits apoptosis of cardiomyocytes induced by oxidative stress.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

The WD40 repeat protein WDR26 binds Gβγ and promotes Gβγ-dependent signal transduction and leukocyte migration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

WD40 proteins propel cellular networks.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Overexpression of MIP2, a novel WD-repeat protein, promotes proliferation of H9c2 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

A novel WD-40 repeat protein WDR26 suppresses H2O2-induced cell death in neural cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

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24 May 2018

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

1 reference

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24 May 2018

The nonsense-mediated decay RNA surveillance pathway

1 reference

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24 May 2018

WDR26: a novel Gbeta-like protein, suppresses MAPK signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

24 May 2018

Syndromes of disordered chromatin remodeling

1 reference

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24 May 2018

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

1 reference

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16 June 2018

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5501873

15 August 2018

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

1 reference

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15 August 2018

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

1 reference

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15 August 2018

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

1 reference

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15 August 2018

FBXO28is a critical gene of the 1q41q42 microdeletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28686853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/28686853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28686853

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2017.06.002

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686853%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

PMC publication ID

1 reference

Europe PubMed Central

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24 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28686853%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

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