Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
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Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeA mouse model of ATR-Seckel shows embryonic replicative stress and accelerated agingHomozygous loss of DIAPH1 is a novel cause of microcephaly in humansExome 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 dwarfismThe essential role of centrosomal NDE1 in human cerebral cortex neurogenesisCEP152 is a genome maintenance protein disrupted in Seckel syndromeThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesSperiolin is a novel human and mouse sperm centrosome proteinA BEN-domain-containing protein associates with heterochromatin and represses transcriptionIntellectual disability associated with a homozygous missense mutation in THOC6Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IDistinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Mutations in the pre-replication complex cause Meier-Gorlin syndromePlk1-dependent and -independent roles of an ODF2 splice variant, hCenexin1, at the centrosome of somatic cellsHallmarks of progeroid syndromes: lessons from mice and reprogrammed cellsATR-mediated regulation of nuclear and cellular plasticityCerebral cortex expansion and folding: what have we learned?Human basal body basicsA developmental and genetic classification for malformations of cortical development: update 2012Diseases associated with defective responses to DNA damageNew connections between splicing and human diseaseThe Implicitome: A Resource for Rationalizing Gene-Disease AssociationsLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceA novel role for the centrosomal protein, pericentrin, in regulation of insulin secretory vesicle docking in mouse pancreatic beta-cellsCtIP Mutations Cause Seckel and Jawad SyndromesNew frontiers: discovering cilia-independent functions of cilia proteinsCentriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationMutations in the NHEJ component XRCC4 cause primordial dwarfismAdvances in Skeletal Dysplasia GeneticsDISC1-binding proteins in neural development, signalling and schizophreniaIdentification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeCDK5RAP2 regulates centriole engagement and cohesion in miceMCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathwayAcentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryoVIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signalingCEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombinationEvolutionary genomics of human intellectual disabilityMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewReplication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.
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P2860
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Mutations in pericentrin cause ...... ependent DNA damage signaling.
@en
type
label
Mutations in pericentrin cause ...... ependent DNA damage signaling.
@en
prefLabel
Mutations in pericentrin cause ...... ependent DNA damage signaling.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in pericentrin cause ...... ependent DNA damage signaling.
@en
P2093
Anand Saggar
Carol-Anne Martin
Elen Griffith
Nouriya Al Sanna
Paola Vagnarelli
Penny A Jeggo
P2860
P2888
P304
P356
10.1038/NG.2007.80
P407
P577
2007-12-23T00:00:00Z