Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
about
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismCiliogenesis and the DNA damage response: a stressful relationshipMeier-Gorlin syndromeLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceThe Geminin and Idas Coiled Coils Preferentially Form a Heterodimer That Inhibits Geminin Function in DNA Replication LicensingAdvances in Skeletal Dysplasia GeneticsSmall organelle, big responsibility: the role of centrosomes in development and disease.Primordial dwarfism: overview of clinical and genetic aspects.The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling.A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formationMutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.The contribution of dormant origins to genome stability: from cell biology to human genetics.The Janus soul of centrosomes: a paradoxical role in disease?ATR promotes cilia signalling: links to developmental impacts.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.Role of primary cilia in non-dividing and post-mitotic cells.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Perturbations in the Replication Program Contribute to Genomic Instability in Cancer.Dormant origins as a built-in safeguard in eukaryotic DNA replication against genome instability and disease development.Human RIF1 and protein phosphatase 1 stimulate DNA replication origin licensing but suppress origin activation.Human DNA helicase, RuvBL1 and its Chlamydomonas homologue, CrRuvBL1 plays an important role in ciliogenesis.Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.Controlling centriole numbers: Geminin family members as master regulators of centriole amplification and multiciliogenesis.The primary cilium - once a "rudimentary" organelle that is now a ubiquitous sensory cellular structure involved in many pathological disorders.
P2860
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P2860
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
description
2013 nî lūn-bûn
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2013 թուականի Մարտին հրատարակուած գիտական յօդուած
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2013 թվականի մարտին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@ast
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@en
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@nl
type
label
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@ast
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@en
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@nl
prefLabel
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@ast
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@en
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@nl
P2093
P2860
P1433
P1476
Deficiency in origin licensing ...... logy of Meier-Gorlin syndrome.
@en
P2093
Diana Alcantara
Emily Outwin
Ernie M H F Bongers
Han G Brunner
Meryem Alagoz
Penny A Jeggo
P2860
P304
P356
10.1371/JOURNAL.PGEN.1003360
P577
2013-03-14T00:00:00Z