Keywords: Bloom syndrome; dyskeratosis congenita; genetic testing; Gorlin syndrome; Muir-Torre syndrome; nonmelanoma skin cancer; oculocutaneous albinism; Rothmund-Thomson syndrome; Werner syndrome; 5-FU; 5-fluorouracil; ADA1; adenosine deaminase 1; ADA-SCID; a
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: 3-AP; 3-aminopyridine-2-carboxaldehyde thiosemicarbazone; ATM; ataxia telangiectasia mutated; ATR; ataxia telangiectasia and Rad3-related protein; AMP/ADP/ATP; adenosine mono-, di-, and tri-phosphate; BLM; Bloom syndrome RecQ helicase-like; BRAF; V-raf mu
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
Keywords: RTS; Rothmund-Thomson syndrome; RECQL4; RecQ-like DNA helicase type 4; NGS; next-generation sequencing; RAPADILINO; RAdial hypoplasia, PAtellar hypoplasia and cleft or arched PAlate, DIarrhoea and DIslocated joints, LIttle size and LIimb malformation, sle
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders
Keywords: Rothmund-Thomson syndrome; RECQL4; DNA damage repair; Senescence; Mitochondria; Telomere;
RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks
Keywords: RECQL4; Rothmund-Thomson syndrome; DNA resection; homologous recombination; DNA repair; RecQ-like helicase
Bioinformatic analysis of RecQ4 helicases reveals the presence of a RQC domain and a Zn knuckle
Keywords: RecQ helicase; RecQL4; RQC domain; Zn knuckle; Sld2; DNA replication;
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma
Keywords: Poikiloderma; Neutropenia; C16orf57; RECQL4
Saccharomyces cerevisiae Hrq1 requires a long 3′-tailed DNA substrate for helicase activity
Keywords: RTS, Rothmund–Thomson syndrome; HR, homologous recombination; sscDNA, single-stranded circular DNA; SSB, ssDNA-binding proteinHrq1; RECQL4; RecQ helicase; Sgs1; DNA unwinding; DNA strand annealing activity
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity
Keywords: RecQ helicase; RECQL4; RAPADILINO; Rothmund-Thomson syndrome; ATPase;
The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells: Role of the N-terminal region of RECQL4 in cells
Keywords: RecQL4; Rothmund–Thomson syndrome; RecQ helicase; DNA repair; Sld2
The intergenic region between the Mouse Recql4 and Lrrc14 genes functions as an evolutionary conserved bidirectional promoter
Keywords: AP; Alkaline Phosphatase; BAL1; B-aggressive lymphoma 1; BBAP; B-aggressive lymphoma and BAL1 binding partner; bp; base pair(s); BCIP; 5-Bromo-4-chloro-3-indolyl phosphate toluidine salt; BT; Basal Telencephalon; C; Cytidine; cDNA; complementary DNA; CEI;
Identification of new RECQL4 mutations in Caucasian Rothmund–Thomson patients and analysis of sensitivity to a wide range of genotoxic agents
Keywords: Rothmund–Thomson syndrome; RECQL4; Mutation; Genotoxic sensitivity
Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts
Keywords: RecQL4; Double-strand DNA break repair; Ku heterodimer; DNA-dependent protein kinase (DNA-PK); Non-homologous end-joining (NHEJ)
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome
Keywords: RECQL4; Rothmund-Thomson syndrome; DNA damage; Osteosarcoma
The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress
Keywords: RECQL4; Rothmund-Thomson syndrome (RTS); Poly(ADP-ribose) polymerase-1; Immunofluorescence; Oxidative stress; Nucleolar accumulation; Osteosarcoma; Nucleus; Cancer predisposition; Genomic instability