RECQL4 Antibody

1. Data suggest that RECQL4 DNA helicase (RECQL4) modulates the pathway choice of DNA end-joining repair and homologous recombination DNA repair in a cell cycle-dependent manner. PMID: 29229926
2. analysis of RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome PMID: 29462647
3. RECQL4 is an important participant in homologous recombination (HR)-dependent DNA double-strand break repair. PMID: 27320928
4. These results solidify Hrq1 as a true RecQ4 homolog and position it as the premier model to determine how RecQ4 mutations lead to genomic instability and disease. PMID: 28334827
5. High RECQL4 expression is associated with Cisplatin Resistance in Gastric Cancer. PMID: 27013200
6. Mutations in RECQL4 are responsible for the majority of cases of Rothmund-Thomson syndrome . RECQL4 is important not only in Cancer development but also in the aging process. PMID: 27287744
7. High RecQL4 expression is associated with osteosarcoma. PMID: 27813658
8. this study demonstrates for the first time that, owing to its mitochondrial functions, the accessory mitochondrial replication helicase RECQL4 prevents the invasive step in the neoplastic transformation process. PMID: 26906415
9. These results reveal novel possible roles of RecQ4 in DNA replication and genome stability. PMID: 26888063
10. RECQL4 is tumour promoting in established breast cancers PMID: 26690729
11. RecQL4-dependent association of Mcm10 and Ctf4 with replication origins appears to be the first important step controlled by S phase promoting kinases and checkpoint pathways for the initiation of DNA replication in human cells. PMID: 25602958
12. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. PMID: 24635570
13. This finding provided the key to unravel the correlation between the RECQL4 genotype and the mild phenotype of the two siblings of Rothmund-Thomson Syndrome. PMID: 24518840
14. The N-terminus of human RecQL4 acts as a complex moderator of DNA transactions that are mediated by multiple DNA-binding sites. PMID: 25336622
15. The highly cancer-prone RECQ4 ID mutant failed to interact with p32, leading to increases in mtDNA copy number and MT dysfunction. PMID: 24746816
16. Dysfunction of RECQL4 increases DNA damage and triggers premature senescence in both human and mouse cells, which may contribute to symptoms in Rothmund-Thompson syndrome patients. PMID: 24832598
17. Elevated expression of RECQL4 accompanies progression of the Rothmund-Thomson Syndrome into osteosarcoma in humans and mice. PMID: 24924172
18. Molecular analyses show the presence of a novel truncating mutation and of a known missense mutation, p.R1021W, located outside of the helicase domain, which has been found in several patients either in a compound heterozygous state or alone. PMID: 23899764
19. In vitro studies showed that defects in RECQL4 impair homologous recombination, sensitizing BC cells to DNA-damaging agents. PMID: 24072219
20. RECQL4 and p53 potentiate the activity of polymerase gamma and maintain the integrity of the human mitochondrial genome. PMID: 24067899
21. overexpression of RecQL4 due to gene amplification play a critical role in human breast tumor progression PMID: 23894508
22. RECQL4 may be uniquely positioned to act as a bridge between cancer and aging, functioning as a guardian not only of the nuclear genome, but also of the mitochondrial genome. PMID: 22940096
23. RECQL4 has a preferential activity in vitro on telomeric substrates containing thymine glycol. PMID: 23683351
24. Our findings provide further support for a helicase-dependent cellular function of RECQL4 PMID: 23238538
25. Nuclear exporting signals -mediated RecQL4 export to the cytoplasm is essential for the maintenance of mitochondrial genome stability. PMID: 22824301
26. Despite low-sequence homology, the N-terminus of the human RecQL4 helicase was determined to be a well-defined structure that carries an overall helical fold similar to homeodomain DNA-binding proteins but lacks their archetypical, minor groove-binding N-terminal extension. PMID: 22730300
27. Measurements of mitochondrial bioenergetics showed a reduction in the mitochondrial reserve capacity after lentiviral knockdown of RECQL4 in two different primary cell lines. PMID: 22296597
28. RECQL4 is essential for the transport of p53 to mitochondria. PMID: 22357944
29. BLM and RECQL4 interact physically and functionally in vivo and in vitro. PMID: 22544709
30. These observations help explain the underlying molecular etiology of the disease and our findings provide insight into the genotype and phenotype association among RECQL4 syndromes PMID: 22885111
31. study concludes that the function of the RecQ helicases has diverged during evolution, with RecQL4 acquiring a function that allows cells to negotiate DNA replication templates that have been damaged by ionizing radiation PMID: 22508716
32. Single Nucleotide Polymorphisms in RECQL4 gene is associated with glioblastoma. PMID: 22017238
33. function of RECQL4 in telomere maintenance PMID: 22039056
34. RecQL4, the N-terminal portion of which shares similarity with Sld2 known to be required for assembly of a replication complex in yeasts, is unique in that it has been shown to be essential for the initiation phase of normal DNA replication. PMID: 21436139
35. The N-terminal domain of RECQL4 is sufficient for cell viability. The C-terminal region including the helicase domain of RECQL4 is implicated in DNA repair. PMID: 21256165
36. Study shows that RecQL4 is an essential factor for prostate carcinogenesis. PMID: 21045146
37. shows that RECQL4 is recruited early to laser-induced double-strand breaks and remains for a shorter duration than WRN and BLM PMID: 20222902
38. Together, these data indicate that specific biochemical activities and protein partners of RecQ4 are conserved with those of the other RecQ helicases. PMID: 20451470
39. These results indicate that RECQ1 and RECQ4 are integral components of the human replication complex and play distinct roles in DNA replication initiation and replication fork progression in vivo. PMID: 20065033
40. The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with Rothmund-Thomson syndrome who has a novel 11-bp intronic deletion; this mutation results in a 66-bp intron too small for proper splicing. PMID: 12016592
41. Two novel exonic single nucleotiude polymorphisms and a minisatellite repeat are characterized. PMID: 12601557
42. RECQL4 mutations were not found in poikiloderma with neutropenia in Navajo and non-Navajo patients PMID: 12673665
43. RECQL4 gene is not a frequent target for somatic mutations in sporadic osteosarcoma. PMID: 15221963
44. RECQL4 from HeLa cells interacts with ubiquitin ligases UBR1 and UBR2. PMID: 15317757
45. The human diseases connected with RECQL4 mutations appear distinct in their clinical phenotypes from Bloom or Werner's symdrome. PMID: 15960976
46. Baller-Gerold syndrome (BGS) in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome. PMID: 15964893
47. Findings suggest a role for RECQL4 in the repair of DNA double-strand breaks by homologous recombination and shed new light onto RECQL4's function in human cells. PMID: 16141230
48. RECQ4 lacks a detectable DNA helicase activity and is mutated in Rothmund-Thomson syndrome PMID: 16214424
49. It is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with. PMID: 16617241
50. These results suggest that enhanced oxidant sensitivity in RECQL4 deficient fibroblasts derived from RTS patients could be attributed to abnormal DNA metabolism and proliferation failure. PMID: 16678792

显示更多

收起更多

HGNC: 9949

OMIM: 218600

KEGG: hsa:9401

UniGene: Hs.31442