An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
about
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeGenetics and genomics of radiotherapy toxicity: towards predictionEukaryotic DNA ligases: structural and functional insightsConnecting Malfunctioning Glial Cells and Brain Degenerative DisordersThe DNA damage response induced by infection with human cytomegalovirus and other virusesDiseases associated with defective responses to DNA damageCrystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJDNA ligase IV syndrome; a reviewUbiquitylation, neddylation and the DNA damage responseHuman LIGIV is synthetically lethal with the loss of Rad54B-dependent recombination and is required for certain chromosome fusion events induced by telomere dysfunctionRole of non-homologous end joining in V(D)J recombinationRole of DNA-dependent protein kinase catalytic subunit in cancer development and treatmentHeritability of radiation response in lung cancer familiesMultiple-pathway analysis of double-strand break repair mutations in DrosophilaGammaH2AX and cancerEndogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.Dynamics of p53 and NF-κB regulation in response to DNA damage and identification of target proteins suitable for therapeutic intervention.Untangling the relationships between DNA repair pathways by silencing more than 20 DNA repair genes in human stable clones.Extreme growth failure is a common presentation of ligase IV deficiency.G2-phase chromosomal radiosensitivity of primary fibroblasts from hereditary retinoblastoma family members and some apparently normal controls.Release of Ku and MRN from DNA ends by Mre11 nuclease activity and Ctp1 is required for homologous recombination repair of double-strand breaks.A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors.DNA double-strand break signaling and human disorders.DNA repair mechanisms in dividing and non-dividing cells.Developmental modulation of nonhomologous end joining in Caenorhabditis elegans.Ribosomal S6 Kinase 2 (RSK2) maintains genomic stability by activating the Atm/p53-dependent DNA damage pathwayAbnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.Regulatory networks integrating cell cycle control with DNA damage checkpoints and double-strand break repair.Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failureOrganization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repairGenome maintenance defects in cultured cells and mice following partial inactivation of the essential cell cycle checkpoint gene Hus1.Phospho-histone H2AX is a diagnostic and prognostic marker for epithelial ovarian cancerReducing DNA polymerase alpha in the absence of Drosophila ATR leads to P53-dependent apoptosis and developmental defectsInduction of Excess Centrosomes in Neural Progenitor Cells during the Development of Radiation-Induced MicrocephalyTumor suppressor genetics.The role of NBS1 in the modulation of PIKK family proteins ATM and ATR in the cellular response to DNA damageNew molecular markers in resistant B-CLL.Syndromes with genetic instability: model diseases for (skin) cancerogenesis.Molecular targets and mechanisms of radiosensitization using DNA damage response pathways.
P2860
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P2860
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@ast
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@en
type
label
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@ast
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@en
prefLabel
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@ast
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@en
P2093
P1433
P1476
An overview of three new disor ...... -SCID and ATR-Seckel syndrome.
@en
P2093
P304
P356
10.1016/J.DNAREP.2004.03.025
P577
2004-08-01T00:00:00Z