Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
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Rothmund-Thomson syndromeThe RecQ DNA helicases in DNA repairHuman RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biologyRoles of Werner syndrome protein in protection of genome integrityRoles of RECQ helicases in recombination based DNA repair, genomic stability and agingHuman premature aging, DNA repair and RecQ helicasesPhotosensitive human syndromesNucleases in homologous recombination as targets for cancer therapyThe DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formationStructure of the human RECQ1 helicase reveals a putative strand-separation pinThe ubiquitin ligase Ubr2, a recognition E3 component of the N-end rule pathway, stabilizes Tex19.1 during spermatogenesisHow Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend InitiativeRecQ helicases: guardian angels of the DNA replication fork.dRecQ4 is required for DNA synthesis and essential for cell proliferation in Drosophila.Replication protein A stimulates the Werner syndrome protein branch migration activity.The involvement of human RECQL4 in DNA double-strand break repair.Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiationLoss of Blm enhances basal cell carcinoma and rhabdomyosarcoma tumorigenesis in Ptch1+/- mice.The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.The mutation spectrum in RECQL4 diseases.Werner protein protects nonproliferating cells from oxidative DNA damageThe helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patientsThe versatile RECQL4.Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase.The human RECQ1 helicase is highly expressed in glioblastoma and plays an important role in tumor cell proliferation.Human RECQ1 helicase-driven DNA unwinding, annealing, and branch migration: insights from DNA complex structuresStructural mechanisms of DNA binding and unwinding in bacterial RecQ helicases.Structure and function of RecQ DNA helicases.At-risk populations for osteosarcoma: the syndromes and beyond."...Rewritten in the skin": clues to skin biology and aging from inherited disease.DNA helicases involved in DNA repair and their roles in cancerRAPADILINO RECQL4 mutant protein lacks helicase and ATPase activityGenetically engineered mouse models and human osteosarcoma.Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stabilityUnique and important consequences of RECQ1 deficiency in mammalian cells.Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development.The BLM dissolvasome in DNA replication and repair.
P2860
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P2860
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
description
2003 nî lūn-bûn
@nan
2003 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@ast
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@en
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@nl
type
label
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@ast
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@en
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@nl
prefLabel
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@ast
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@en
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@nl
P2093
P50
P356
P1476
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
@en
P2093
Anna-Marja Säämänen
H Annika Siitonen
Marjo Kestilä
Robin M Winter
P304
P356
10.1093/HMG/DDG306
P407
P577
2003-11-01T00:00:00Z