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2022 4
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Page 1
Resistance to DNA repair inhibitors in cancer.
Baxter JS, Zatreanu D, Pettitt SJ, Lord CJ. Baxter JS, et al. Mol Oncol. 2022 Nov;16(21):3811-3827. doi: 10.1002/1878-0261.13224. Epub 2022 Jun 5. Mol Oncol. 2022. PMID: 35567571 Free PMC article. Review.
A series of novel DDR targets are now also under pre-clinical or clinical investigation, including inhibitors of ATR kinase, WRN helicase or the DNA polymerase/helicase Polteta (Pol-Theta). Drug resistance is a common phenomenon that impairs the overall effectiveness of ca …
A series of novel DDR targets are now also under pre-clinical or clinical investigation, including inhibitors of ATR kinase, WRN heli …
Helicases in R-loop Formation and Resolution.
Yang S, Winstone L, Mondal S, Wu Y. Yang S, et al. J Biol Chem. 2023 Nov;299(11):105307. doi: 10.1016/j.jbc.2023.105307. Epub 2023 Sep 29. J Biol Chem. 2023. PMID: 37778731 Free PMC article. Review.
Indeed, numerous helicases such as senataxin (SETX), Aquarius (AQR), WRN, BLM, RTEL1, PIF1, FANCM, ATRX (alpha-thalassemia/mental retardation, X-linked), CasDinG, and several DEAD/H-box proteins are reported to resolve R-loops; while other helicases, such as Cas3 and UPF1, …
Indeed, numerous helicases such as senataxin (SETX), Aquarius (AQR), WRN, BLM, RTEL1, PIF1, FANCM, ATRX (alpha-thalassemia/mental ret …
DNA repair deficiencies and neurodegeneration.
Ropert B, Gallrein C, Schumacher B. Ropert B, et al. DNA Repair (Amst). 2024 Jun;138:103679. doi: 10.1016/j.dnarep.2024.103679. Epub 2024 Apr 16. DNA Repair (Amst). 2024. PMID: 38640601 Free article. Review.
Far less known are the neurodegenerative pathologies in DNA repair deficiency syndromes. Such diseases like Cockayne - or Werner Syndrome are described as progeroid syndromes - diseases that cause the premature ageing of the affected persons, and there are clear imp …
Far less known are the neurodegenerative pathologies in DNA repair deficiency syndromes. Such diseases like Cockayne - or Werner S
Research on Werner Syndrome: Trends from Past to Present and Future Prospects.
Tsuge K, Shimamoto A. Tsuge K, et al. Genes (Basel). 2022 Oct 6;13(10):1802. doi: 10.3390/genes13101802. Genes (Basel). 2022. PMID: 36292687 Free PMC article. Review.
A rare and autosomal recessive premature aging disorder, Werner syndrome (WS) is characterized by the early onset of aging-associated diseases, including shortening stature, alopecia, bilateral cataracts, skin ulcers, diabetes, osteoporosis, arteriosclerosis, and ch …
A rare and autosomal recessive premature aging disorder, Werner syndrome (WS) is characterized by the early onset of aging-ass …
Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein.
Orren DK, Machwe A. Orren DK, et al. Int J Mol Sci. 2024 Jul 30;25(15):8300. doi: 10.3390/ijms25158300. Int J Mol Sci. 2024. PMID: 39125869 Free PMC article. Review.
Werner syndrome (WS) is an autosomal recessive disease caused by loss of function of WRN. ...Here, we review the genetics, biochemistry, and probably physiological functions of the WRN protein. Although its precise role is unclear, evidence suggests
Werner syndrome (WS) is an autosomal recessive disease caused by loss of function of WRN. ...Here, we review the geneti
Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA. Maguina M, et al. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Muscle Nerve. 2023. PMID: 36190439 Free PMC article. Review.
Three additional recessive DNA repair disorders are associated with neuropathies, including trichothiodystrophy, Werner syndrome, and ataxia-telangiectasia. Although plausible biological explanations exist for why the peripheral nerves are specifically vulnerable to …
Three additional recessive DNA repair disorders are associated with neuropathies, including trichothiodystrophy, Werner syndrome
Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.
Larizza L, Colombo EA. Larizza L, et al. Int J Mol Sci. 2024 Aug 29;25(17):9387. doi: 10.3390/ijms25179387. Int J Mol Sci. 2024. PMID: 39273335 Free PMC article. Review.
In the context of basic information on NPC architecture and functions, we discuss the studies on the interdependence of caretakers and gatekeepers in WS and Hereditary Fibrosing Poikiloderma (POIKTMP), both entering in differential diagnosis with RTS. In WS, the WRN/WRNIP …
In the context of basic information on NPC architecture and functions, we discuss the studies on the interdependence of caretakers and gatek …
'Werner Syndrome foot'-A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease.
McGrath A, Lockhart M, Griffin T, Lynch SA, Dinneen SF. McGrath A, et al. Diabet Med. 2024 Sep;41(9):e15390. doi: 10.1111/dme.15390. Epub 2024 Jun 24. Diabet Med. 2024. PMID: 38924167 Review.
AIMSWERNER SYNDROME IS A RARE PREMATURE AGEING AUTOSOMAL RECESSIVE DISORDER CAUSED BY PATHOGENIC VARIANTS IN THE WRN GENE. PEOPLE WITH WERNER SYNDROME MAY DEVELOP DIABETES MELLITUS. CHRONIC FOOT ULCERATION IS SEEN, WITH SOME CHARACTERISTICS OVERLAPPING WITH D …
AIMSWERNER SYNDROME IS A RARE PREMATURE AGEING AUTOSOMAL RECESSIVE DISORDER CAUSED BY PATHOGENIC VARIANTS IN THE WRN GENE. PEOPLE WIT …