Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q28728525

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Quantitative Lys-ϵ-Gly-Gly (diGly) proteomics coupled with inducible RNAi reveals ubiquitin-mediated proteolysis of DNA damage-inducible transcript 4 (DDIT4) by the E3 ligase HUWE1.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Incomplete meiotic sex chromosome inactivation in the domestic dog.Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Mule/Huwe1/Arf-BP1 suppresses Ras-driven tumorigenesis by preventing c-Myc/Miz1-mediated down-regulation of p21 and p15 The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development.Perturbed proteostasis in autism spectrum disorders.Destabilization of Atoh1 by E3 Ubiquitin Ligase Huwe1 and Casein Kinase 1 Is Essential for Normal Sensory Hair Cell Development.A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.UbFluor: A Fluorescent Thioester to Monitor HECT E3 Ligase Catalysis.Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.Ubiquitination by HUWE1 in tumorigenesis and beyond Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

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

http://www.wikidata.org/entity/Q28728525

description

2012 nî lūn-bûn

@nan

2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

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

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

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

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type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

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J.AJHG.2012.06.010

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American Journal of Human Genetics

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

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Conny M A van Ravenswaaij-Arts

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F Lucy Raymond

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Guy Froyen

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Jelle Verbeeck

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Lene Donckers

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Leslie Sheffield

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Mark A Corbett

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Matthias Declercq

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Monica Rosello

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Márcia Mattos Gonçalves Pimentel

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Mechanisms of change in gene copy number

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

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

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

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

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

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

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

The mechanism of human nonhomologous DNA end joining

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

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10.1016/J.AJHG.2012.06.010

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Francisco Martinez

Charles Coutton

Véronique Satre

Cíntia Barros Santos-Rebouças

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2012-07-26T00:00:00Z

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