• Thumbnail for Werner syndrome helicase
    Werner syndrome ATP-dependent helicase, also known as DNA helicase, RecQ-like type 3, is an enzyme that in humans is encoded by the WRN gene. WRN is a...
    34 KB (4,167 words) - 10:35, 11 December 2024
  • Thumbnail for Werner syndrome
    Werner syndrome (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is characterized by the appearance...
    35 KB (4,512 words) - 06:22, 28 February 2025
  • Thumbnail for Helicase
    Sopher BL, Martin GM, et al. (September 1997). "The Werner syndrome protein is a DNA helicase". Nature Genetics. 17 (1): 100–103. doi:10.1038/ng0997-100...
    55 KB (6,744 words) - 13:06, 19 February 2025
  • Thumbnail for Bloom syndrome
    DNA helicase family. Mutations in genes encoding other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome...
    25 KB (2,752 words) - 23:01, 12 February 2025
  • connected to Werner syndrome. WRN encodes the WRNp protein, a 1432 amino acid protein with a central domain resembling members of the RecQ helicases. WRNp is...
    74 KB (8,748 words) - 15:14, 24 November 2024
  • Thumbnail for Microsatellite instability
    if not repaired. This is exemplified by the dependency of the Werner syndrome helicase in MSI-H cancers. Microsatellite instability is associated with...
    26 KB (3,101 words) - 20:27, 25 December 2024
  • Thumbnail for Hereditary cancer syndrome
    disorder, Werner syndrome". Mutat. Res. 577 (1–2): 252–9. doi:10.1016/j.mrfmmm.2005.03.021. PMID 15916783. Monnat RJ (2010). "Human RECQ helicases: roles...
    51 KB (5,582 words) - 14:40, 11 March 2025
  • helicases; thus it is crucial that RecQ is present and functional to ensure proper human growth and development.[citation needed] The Werner syndrome...
    17 KB (1,899 words) - 18:00, 23 November 2024
  • Thumbnail for Bloom syndrome protein
    DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs...
    21 KB (2,565 words) - 06:29, 24 September 2024
  • (mean lifespan 13 years).[citation needed] Werner syndrome is due to an inherited defect in an enzyme (a helicase and exonuclease) that acts in base excision...
    97 KB (11,163 words) - 08:06, 6 January 2025
  • Thumbnail for RECQL4
    other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations...
    10 KB (1,245 words) - 05:09, 13 August 2023
  • Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson–Gilford progeria syndrome) Rothmund–Thomson syndrome Trichothiodystrophy Werner syndrome...
    43 KB (3,770 words) - 18:03, 27 November 2024
  • Thumbnail for Rothmund–Thomson syndrome
    mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome. Sun-sensitive rash...
    10 KB (914 words) - 15:27, 23 October 2024
  • (February 2012). "Recapitulation of Werner syndrome sensitivity to camptothecin by limited knockdown of the WRN helicase/exonuclease". Biogerontology. 13...
    25 KB (2,804 words) - 06:09, 10 June 2024
  • Thumbnail for Ruijs-Aalfs syndrome
    Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299...
    3 KB (326 words) - 15:47, 23 October 2024
  • Thumbnail for Xeroderma pigmentosum
    "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome". Human Mutation. 27 (11): 1092–103...
    30 KB (3,013 words) - 19:58, 29 October 2024
  • similar to that of helicase with the Werner syndrome PRKAB2 is involved in maintaining the energy level of cells. With 1q21.1-deletion syndrome this function...
    21 KB (2,208 words) - 12:57, 24 September 2024
  • Thumbnail for Chromosome 8
    Rothmund–Thomson syndrome Schizophrenia, associated with 8p21-22 locus Waardenburg syndrome Werner syndrome Pingelapese blindness Langer–Giedion syndrome Roberts...
    30 KB (1,978 words) - 10:55, 2 March 2025
  • Thumbnail for MDA5
    (melanoma differentiation-associated protein 5) is a RIG-I-like receptor dsRNA helicase enzyme that is encoded by the IFIH1 gene in humans. MDA5 is part of the...
    18 KB (2,222 words) - 20:23, 4 January 2025
  • Thumbnail for DDX11
    Probable ATP-dependent RNA helicase DDX11 is an enzyme that in humans is encoded by the DDX11 gene. DEAD box proteins, characterized by the conserved motif...
    5 KB (634 words) - 20:32, 28 December 2023
  • Thumbnail for PIAS4
    been shown to be responsible for the SUMOylation of inhibited Werner syndrome helicase (WRN) trapped on DNA in microsatellite unstable cancer cells. GRCh38:...
    9 KB (1,158 words) - 06:57, 28 September 2024
  • Thumbnail for RNF4
    RNF4 has been shown to be responsible for the degradation of the Werner syndrome helicase in MSI-H cells after WRN inhibition. RING finger domain GRCh38:...
    10 KB (1,236 words) - 07:15, 28 September 2024
  • Thumbnail for Cruciform DNA
    breast, and colon cancers. Werner's syndrome is a genetic disorder that causes premature aging. Patients with Werner's syndrome lack a functional WRN protein...
    28 KB (3,447 words) - 16:00, 30 March 2024
  • Thumbnail for CHD1L
    increased DNA breaks. The role of CHD1L is similar to that of helicase with the Werner syndrome GRCh38: Ensembl release 89: ENSG00000131778 – Ensembl, May...
    12 KB (1,501 words) - 23:08, 1 November 2024
  • Thumbnail for Ku80
    Telomerase reverse transcriptase, Tyrosine kinase 2, and Werner syndrome ATP-dependent helicase. GRCh38: Ensembl release 89: ENSG00000079246 – Ensembl,...
    21 KB (2,612 words) - 05:45, 11 June 2024
  • Thumbnail for Jan Karlseder
    role in Werner Syndrome, a premature aging disease that is associated with early onset of cancer. WRN helicase, which is mutated in Werner Syndrome patients...
    11 KB (1,152 words) - 22:35, 3 July 2024
  • Thumbnail for WRNIP1
    isolated for this gene. WRNIP1 has been shown to interact with Werner syndrome ATP-dependent helicase. GRCh38: Ensembl release 89: ENSG00000124535 – Ensembl,...
    5 KB (626 words) - 22:11, 17 August 2023
  • Thumbnail for Homologous recombination
    cancer-related diseases Bloom syndrome, Werner syndrome and Rothmund–Thomson syndrome are caused by malfunctioning copies of RecQ helicase genes involved in the...
    106 KB (12,117 words) - 07:58, 5 October 2024
  • presenilin 2 genes linked to early-onset AD, the RecQ helicase gene (WRN) which causes Werner's Syndrome, the MAPT mutations which cause FTLD-tau type, and...
    8 KB (844 words) - 03:56, 6 February 2024
  • Thumbnail for Type I topoisomerase
    III has been identified to be associated with the BLM (for Bloom Syndrome) helicase during recombination. Type IA topoisomerases operate through a strand-passage...
    19 KB (2,345 words) - 07:02, 26 August 2024