Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
about
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencingLin28 sustains early renal progenitors and induces Wilms tumorCommon variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastomaNext-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Loss of the tumor suppressor Hace1 leads to ROS-dependent glutamine addictionA hybrid CFHR3-1 gene causes familial C3 glomerulopathy.Aniridia.Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.HACE1 Negatively Regulates Virus-Triggered Type I IFN Signaling by Impeding the Formation of the MAVS-TRAF3 Complex.Characterising chromosome rearrangements: recent technical advances in molecular cytogeneticsScreening for E3-ubiquitin ligase inhibitors: challenges and opportunities.Telomerase reverse transcriptase catalytic subunit expression and proliferation index in Wilms tumor.Bilateral Wilms tumour: a review of clinical and molecular features.Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes.Identification of cancer-associated missense mutations in hace1 that impair cell growth control and Rac1 ubiquitylation.The IGF signalling pathway in Wilms tumours--a report from the ENCCA Renal Tumours Biology-driven drug development workshop.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Association Between HACE1 Gene Polymorphisms and Wilms' Tumor Risk in a Chinese Population.Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of in Wilms tumour susceptibility
P2860
Q27317217-27F5606D-1631-40F8-B3DF-3BE9EA509C16Q28305453-D94ECC33-88E2-408A-94BB-5F640877CFA1Q28511047-B4FC6E89-9E56-4556-B60D-9763D244F539Q28943271-4671596A-90CB-46FB-B5D7-EE7D89899C38Q33865401-37EA8AA7-05B4-4461-A837-959145EA0F1FQ34987350-F6D65806-C7D1-420F-9CA8-ECF19CE86525Q35287869-39A94C9C-AEAE-4037-BCCB-866BF90C301AQ36050943-FC91A61D-8894-4940-932C-5066F125A9D8Q36253446-73322DB3-5C72-4ADE-BB61-D7CB05115A48Q36611566-2A31FB3A-9A3F-4280-A373-EEE634991DB1Q36947062-19CFC2D2-CA5C-4A04-98CC-7D96BACAF731Q37956503-E398E7F6-FF34-4F06-B29F-2C3039EE4E24Q38252591-5563F085-C954-4F98-9844-0CF9CF688C4CQ38410435-12B480DF-6FA6-471E-ACCA-20D64EBF53E6Q38675275-A1418AAA-2E3D-481C-820C-1183A4E748A8Q39124376-0401E1BA-30A1-4EF9-B7EB-88EA8C0A4567Q42315389-1BCFD814-3020-4F94-B092-9E75039A1ABFQ42995400-DC509614-4A65-4A36-AFCA-CF787B792FEEQ44454288-BC6E19EB-25D5-42B4-BD58-B02296198CA9Q47290680-E3AF59C2-3BF1-4276-972B-B8E5CB02C066Q52663263-F72DD42A-A3CE-4B48-87DC-C655635D7B05Q57821557-4072BF9B-1DB7-4375-8DCA-C0B5E98ACA4D
P2860
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Constitutional translocation b ...... ms tumour susceptibility gene.
@ast
Constitutional translocation b ...... ms tumour susceptibility gene.
@en
type
label
Constitutional translocation b ...... ms tumour susceptibility gene.
@ast
Constitutional translocation b ...... ms tumour susceptibility gene.
@en
prefLabel
Constitutional translocation b ...... ms tumour susceptibility gene.
@ast
Constitutional translocation b ...... ms tumour susceptibility gene.
@en
P2093
P50
P356
P1476
Constitutional translocation b ...... ms tumour susceptibility gene.
@en
P2093
F Abbaszadeh
FACT collaboration
L Stebbings
P Stephens
P304
P356
10.1136/JMG.2009.072983
P407
P577
2009-11-30T00:00:00Z