HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Q27317217)

26 June 2017

title

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (English)

1 reference

26 June 2017

4

1 reference

Gabriele Gillessen-Kaesbach

26 June 2017

14

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David T. Bonthron

17

David T Bonthron

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Ian M. Carr

7

Ian M Carr

0 references

Alexander Markham

12

Alexander F Markham

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David Parry

David A Parry

2

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Tim M Strom

5

Tim M Strom

1 reference

26 June 2017

Ronja Hollstein

1

1 reference

26 June 2017

Lisa Nalbach

3

1 reference

26 June 2017

Verity L Hartill

6

1 reference

26 June 2017

Georg C Korenke

8

1 reference

26 June 2017

Sandeep Uppal

9

1 reference

26 June 2017

Mushtaq Ahmed

10

1 reference

26 June 2017

Thomas Wieland

11

1 reference

26 June 2017

Christopher P Bennett

13

1 reference

26 June 2017

Eamonn G Sheridan

15

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26 June 2017

Frank J Kaiser

16

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26 June 2017

language of work or name

English

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publication date

30 September 2015

1 reference

full work available at URL

26 June 2017

http://eprints.whiterose.ac.uk/88505/

content deliverer

White Rose Research Online

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published in

Journal of Medical Genetics

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26 June 2017

volume

52

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26 June 2017

issue

12

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26 June 2017

page(s)

797-803

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The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1

26 June 2017

cites work

1 reference

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The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle

21 March 2017

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Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro

21 March 2017

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Abnormal function of astroglia lacking Abr and Bcr RacGAPs

21 March 2017

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GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

21 March 2017

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Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

28 September 2017

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The diverse genetic landscape of neurodevelopmental disorders.

28 September 2017

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The small GTPases RhoA and Rac1 regulate cerebellar development by controlling cell morphogenesis, migration and foliation.

28 September 2017

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Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis

28 September 2017

1 reference

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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

28 September 2017

1 reference

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The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

28 September 2017

1 reference

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Retinoic acid induces neurogenesis by activating both retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor β/δ (PPARβ/δ)

28 September 2017

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Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

28 September 2017

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Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

28 September 2017

1 reference

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Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function

28 September 2017

1 reference

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HACE1: A novel repressor of RAR transcriptional activity.

28 September 2017

1 reference

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

28 September 2017

1 reference

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Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

28 September 2017

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Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney

28 September 2017

1 reference

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Degenerate suppression PCR identifies the beta2-adrenergic receptor as upregulated by neuronal differentiation

28 September 2017

1 reference

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Retinoic acid receptor beta2 and neurite outgrowth in the adult mouse spinal cord in vitro

28 September 2017

1 reference

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The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers

28 September 2017

1 reference

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Differential effects of the Rac GTPase on Purkinje cell axons and dendritic trunks and spines.

21 January 2018

1 reference

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Rescue of photoreceptor degeneration in rhodopsin-null Drosophila mutants by activated Rac1.

21 January 2018

1 reference

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Ubiquitylation and activation of a Rab GTPase is promoted by a β₂AR-HACE1 complex.

21 January 2018

1 reference

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Characterization of Human hect Domain Family Members and Their Interaction with UbcH5 and UbcH7

21 January 2018

1 reference

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Large-scale discovery of novel genetic causes of developmental disorders

21 January 2018

1 reference

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Methylation of HACE1 in gastric carcinoma.

28 November 2018

1 reference

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Aberrant methylation of the HACE1 gene is frequently detected in advanced colorectal cancer.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717446

10.1136/JMEDGENET-2015-103344

28 November 2018

Identifiers

DOI

1 reference

10.1136/JMEDGENET-2015-103344

26 June 2017

Altmetric DOI

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Dimensions Publication ID

1002413023

0 references

Fatcat ID

release_2ki2qi27v5a3riuhpdyup3mt6u

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2ki2qi27v5a3riuhpdyup3mt6u

mapped directly with Wikidata item

24 November 2022

based on heuristic

Microsoft Academic ID

2171657219

0 references

PMC publication ID

4717446

0 references

1 reference