A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
about
ATR suppresses endogenous DNA damage and allows completion of homologous recombination repairEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientDisruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeA mouse model of ATR-Seckel shows embryonic replicative stress and accelerated agingRegulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismFANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3CEP152 is a genome maintenance protein disrupted in Seckel syndromeDNA nucleotide excision repair-dependent signaling to checkpoint activationChromosomal instability at common fragile sites in Seckel syndromeRecent insights into the Smith-Lemli-Opitz syndrome.DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2AHuman Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpointHuman Claspin works with BRCA1 to both positively and negatively regulate cell proliferationMutations in the pre-replication complex cause Meier-Gorlin syndromeCytoplasmic ATM in neurons modulates synaptic functionEmerging common themes in regulation of PIKKs and PI3KsSimian virus 40 large T antigen disrupts genome integrity and activates a DNA damage response via Bub1 bindingCep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1Mutation analysis of the ATR gene in breast and ovarian cancer families.ATR-mediated regulation of nuclear and cellular plasticityC1D family proteins in coordinating RNA processing, chromosome condensation and DNA damage responseDNA Damage Signalling and Repair Inhibitors: The Long-Sought-After Achilles' Heel of CancerRegulation of the Target of Rapamycin and Other Phosphatidylinositol 3-Kinase-Related Kinases by Membrane TargetingMissing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in ChildhoodTargeting ATM-deficient CLL through interference with DNA repair pathwaysModeling the study of DNA damage responses in miceBeyond DNA repair: DNA-PK function in cancerA developmental and genetic classification for malformations of cortical development: update 2012Mechanisms and regulation of mitotic recombination in Saccharomyces cerevisiaeDiseases associated with defective responses to DNA damageNew connections between splicing and human diseaseThe Implicitome: A Resource for Rationalizing Gene-Disease AssociationsThe Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in DrosophilaLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceCtIP Mutations Cause Seckel and Jawad SyndromesUbiquitylation, neddylation and the DNA damage responseThe ATR-p53 pathway is suppressed in noncycling normal and malignant lymphocytesMutations in the NHEJ component XRCC4 cause primordial dwarfism
P2860
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P2860
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
description
2003 nî lūn-bûn
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2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A splicing mutation affecting ...... TR) results in Seckel syndrome
@ast
A splicing mutation affecting ...... TR) results in Seckel syndrome
@en
A splicing mutation affecting ...... TR) results in Seckel syndrome
@nl
type
label
A splicing mutation affecting ...... TR) results in Seckel syndrome
@ast
A splicing mutation affecting ...... TR) results in Seckel syndrome
@en
A splicing mutation affecting ...... TR) results in Seckel syndrome
@nl
prefLabel
A splicing mutation affecting ...... TR) results in Seckel syndrome
@ast
A splicing mutation affecting ...... TR) results in Seckel syndrome
@en
A splicing mutation affecting ...... TR) results in Seckel syndrome
@nl
P2093
P3181
P356
P1433
P1476
A splicing mutation affecting ...... TR) results in Seckel syndrome
@en
P2093
C Geoffrey Woods
Judith A Goodship
Penny A Jeggo
P2888
P304
P3181
P356
10.1038/NG1129
P407
P577
2003-04-01T00:00:00Z