Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
about
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Ciliogenesis and the DNA damage response: a stressful relationshipHuman basal body basicsZNF423 and ZNF521: EBF1 Antagonists of Potential Relevance in B-Lymphoid MalignanciesThe role of primary cilia in the development and disease of the retinaSmelling the roses and seeing the light: gene therapy for ciliopathiesDiseases associated with defective responses to DNA damageCSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid FormationZfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium FunctionNephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transitionAcute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypesARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targetingCep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesisNew frontiers: discovering cilia-independent functions of cilia proteinsNephronophthisis and related syndromesMutations in DCHS1 cause mitral valve prolapseATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryoMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisReptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility.Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiationIdentification of optimum sequencing depth especially for de novo genome assembly of small genomes using next generation sequencing data.Phenotypic expansion of DGKE-associated diseasesNew insights into an old organelle: meeting report on biology of cilia and flagella"Stop Ne(c)king around": How interactomics contributes to functionally characterize Nek family kinasesGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.Centrosomes as signalling centres.Small organelle, big responsibility: the role of centrosomes in development and disease.Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityIdentification of a recurrent transforming UBR5-ZNF423 fusion gene in EBV-associated nasopharyngeal carcinoma.Ciliopathies: the trafficking connection.FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.Causes and consequences of replication stress.Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingWhole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Exploring the genetic basis of early-onset chronic kidney disease.Zfp423 binds autoregulatory sites in p19 cell culture model.
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P2860
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@ast
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en-gb
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@nl
type
label
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@ast
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en-gb
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@nl
prefLabel
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@ast
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en-gb
Exome capture reveals ZNF423 a ...... DNA damage response signaling
@nl
P2093
P2860
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Exome capture reveals ZNF423 a ...... DNA damage response signaling
@en
P2093
Ahmet Nayir
Ali A Al-Rajhi
Amiya K Ghosh
Andrew Cluckey
Anna Lindstrad
Bruce A Hamilton
Chen-Jei Hong
Colin A Johnson
Corinne Stoetzel
Dan G Doherty
P2860
P304
P3181
P356
10.1016/J.CELL.2012.06.028
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P50
P5008
P577
2012-08-03T00:00:00Z