Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
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P1343
ATR suppresses endogenous DNA damage and allows completion of homologous recombination repairDisruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismA novel role of human holliday junction resolvase GEN1 in the maintenance of centrosome integrityATMIN defines an NBS1-independent pathway of ATM signallingFANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3Diseases associated with defective responses to DNA damageNew connections between splicing and human diseaseCtIP Mutations Cause Seckel and Jawad SyndromesIdentification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeReplication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.Distinct modes of ATR activation after replication stress and DNA double-strand breaks in Caenorhabditis elegans.Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.Ionizing radiation-dependent and independent phosphorylation of the 32-kDa subunit of replication protein A during mitosisPericentrin in cellular function and diseaseATR contributes to telomere maintenance in human cellsSmall organelle, big responsibility: the role of centrosomes in development and disease.ATR mediates a checkpoint at the nuclear envelope in response to mechanical stress.BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly.Dimerization of the ATRIP protein through the coiled-coil motif and its implication to the maintenance of stalled replication forksGenetic determinants at the interface of cancer and neurodegenerative disease.ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling.Primordial dwarfism: overview of clinical and genetic aspects.Chromatin relaxation-mediated induction of p19INK4d increases the ability of cells to repair damaged DNA.Reduced expression of GINS complex members induces hallmarks of pre-malignancy in primary untransformed human cellsA positive role for c-Abl in Atm and Atr activation in DNA damage response.Analysis of mutations that dissociate G(2) and essential S phase functions of human ataxia telangiectasia-mutated and Rad3-related (ATR) protein kinase.SV40 utilizes ATM kinase activity to prevent non-homologous end joining of broken viral DNA replication productsThe leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling.Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.Mutations in CDK5RAP2 cause Seckel syndromeGenetic links between brain development and brain evolution.p53 and translation attenuation regulate distinct cell cycle checkpoints during endoplasmic reticulum (ER) stress.Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1Replication intermediates that escape Dna2 activity are processed by Holliday junction resolvase Yen1.Is activation of the intra-S checkpoint in human fibroblasts an important factor in protection against UV-induced mutagenesis?Open and closed lip schizencephaly in Seckel syndrome: a case report.The DNA damage response: Balancing the scale between cancer and ageing.Mechanisms and pathways of growth failure in primordial dwarfism.
P2860
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P2860
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
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2004年學術文章
@zh-hant
name
Seckel syndrome exhibits cellu ...... in the ATR-signalling pathway.
@en
type
label
Seckel syndrome exhibits cellu ...... in the ATR-signalling pathway.
@en
prefLabel
Seckel syndrome exhibits cellu ...... in the ATR-signalling pathway.
@en
P2093
P2860
P356
P1476
Seckel syndrome exhibits cellu ...... in the ATR-signalling pathway
@en
P2093
Hans Joenje
Mark O'Driscoll
Penny A Jeggo
Raymonda Varon
P2860
P304
P356
10.1093/HMG/DDH335
P4510
P577
2004-10-20T00:00:00Z