(Q28728525)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

Cíntia Barros Santos-Rebouças

9 February 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Siren Berland

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Sonia Mayo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Charles Coutton

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Véronique Satre

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

16

Tulika Bose

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1

Guy Froyen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Stefanie Belet

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Matthias Declercq

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jelle Verbeeck

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Lene Donckers

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Monica Rosello

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Márcia Mattos Gonçalves Pimentel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Randi Hovland

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Suely Rodrigues dos Santos

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

F Lucy Raymond

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Mark A Corbett

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Leslie Sheffield

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Conny M A van Ravenswaaij-Arts

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Trijnie Dijkhuizen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Victoria Siu

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Peter Marynen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Natalia Fintelman-Rodrigues

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

26 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

252-264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

MicroRNA-98 negatively regulates IL-10 production and endotoxin tolerance in macrophages after LPS stimulation

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Mechanisms of change in gene copy number

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

let-7 Overexpression leads to an increased fraction of cells in G2/M, direct down-regulation of Cdc34, and stabilization of Wee1 kinase in primary fibroblasts

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The mechanism of human nonhomologous DNA end joining

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The translin ring specifically recognizes DNA ends at recombination hot spots in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Tiggers and DNA transposon fossils in the human genome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Involvement of let-7/miR-98 microRNAs in the regulation of progesterone receptor membrane component 1 expression in ovarian cancer cells.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

G‐quadruplex nucleic acids and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Non-B DNA structure-induced genetic instability and evolution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The N-Myc-DLL3 cascade is suppressed by the ubiquitin ligase Huwe1 to inhibit proliferation and promote neurogenesis in the developing brain.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The genetic landscape of intellectual disability arising from chromosome X.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Genetics of intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Palindrome-mediated chromosomal translocations in humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Maintaining appearances--the role of p53 in adult neurogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Breakpoints of gross deletions coincide with non-B DNA conformations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

The Minimum Amount of Homology Required for Homologous Recombination in Mammalian Cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415555

What have studies of genomic disorders taught us about our genome?

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22840365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The origin of chromosome imbalances in neuroblastoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22840365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Let-7/miR-98 regulate Fas and Fas-mediated apoptosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22840365

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.06.010

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

22840365

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22840365%20AND%20SRC:MED&resulttype=core&format=json