Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
about
Disease-causing missense mutations in human DNA helicase disordersRoles of DNA helicases in the maintenance of genome integrityCohesinopathies of a feather flock togetherMolecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndromeChl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathwayThe Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic developmentA Long Noncoding RNA Regulates Sister Chromatid CohesionA patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesVariations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndromeInteractive Roles of DNA Helicases and Translocases with the Single-Stranded DNA Binding Protein RPA in Nucleic Acid Metabolism.Linking chromosome duplication and segregation via sister chromatid cohesionA review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.A distinct triplex DNA unwinding activity of ChlR1 helicaseDNA helicases involved in DNA repair and their roles in cancerA G-quadruplex DNA structure resolvase, RHAU, is essential for spermatogonia differentiation.Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesionNext-generation sequencing applied to rare diseases genomics.Genome stability: What we have learned from cohesinopathies.Mechanistic and biological considerations of oxidatively damaged DNA for helicase-dependent pathways of nucleic acid metabolism.How many roads lead to cohesinopathies?The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase.Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.RecQ and Fe-S helicases have unique roles in DNA metabolism dictated by their unwinding directionality, substrate specificity, and protein interactions.The emerging roles for the chromatin structure regulators CTCF and cohesin in neurodevelopment and behavior.The elemental role of iron in DNA synthesis and repair.Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.Hsp90 Is Essential for Chl1-Mediated Chromosome Segregation and Sister Chromatid Cohesion.Cornelia de Lange syndromeWarsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites
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P2860
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
description
2012 nî lūn-bûn
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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
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name
Identification and biochemical ...... using Warsaw breakage syndrome
@ast
Identification and biochemical ...... using Warsaw breakage syndrome
@en
type
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Identification and biochemical ...... using Warsaw breakage syndrome
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Identification and biochemical ...... using Warsaw breakage syndrome
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prefLabel
Identification and biochemical ...... using Warsaw breakage syndrome
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Identification and biochemical ...... using Warsaw breakage syndrome
@en
P2093
P2860
P356
P1433
P1476
Identification and biochemical ...... using Warsaw breakage syndrome
@en
P2093
André Mégarbane
Eliane Chouery
Fadi F Hamdan
Jacques L Michaud
Joshua A Sommers
Lysanne Patry
Mark E Samuels
Robert M Brosh
Sanjay Kumar Bharti
Tony Yammine
P2860
P304
P356
10.1002/HUMU.22226
P577
2012-10-17T00:00:00Z