International Registry of Werner Syndrome

L iterature


Werner Syndrome

  1. Epstein CJ, Martin GM, Schultz AL, Motulsky AG. Werner's syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationships to the natural aging process. Medicine 45:172-221 (1996).   Clinical review including case reports of Werner Syndrome.
  2. Goto M. Hierarchial deterioration of body systems in Werner's syndrome: Implications for normal ageing. Mechanisms of Ageing and Development 98:239-254 (1997).   Recent clinical review of Japanese Werner Syndrome cases.
  3. Yu CE, Oshima J, Fu YW, Hisama F, Wijsman EM, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Positional cloning of the Werner's syndrome gene. Science 272:258-262 (1996).   Identification of a gene responsible for Werner Syndrome.
  4. Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA. The Werner syndrome protein is a DNA helicase. Nat Genet 17:100-3 (1997).   Demonstration of WRN helicase activity.
  5. Huang S, Li B, Gray MD, Oshima J, Mian IS, Campisi J. The premature ageing syndrome protein, WRN, is a 3'-->5' exonuclease. Nat Genet. 20:114-6 (1998).   Demonstration of WRN exonuclease activity.
  6. Martin GM, Oshima J, Gray MD, Poot M. What geriatricans should know about the Werner syndrome. Journal of the American Geriatric Society 47:1136-1144 (1999).   Latest review on Werner syndrome.
Hutchinson-Gilford Progeria

  1. Brown WT. Premature aging syndromes. Current Profiles in Dermatology 17:152-65 (1987).  
  2. Brown WT, Zebrower M, Kieras FJ. Progeria, a model disease for the study of accelerated aging. Basic Life Sciences 35:375-96 (1985).  
Rothmund-Thomson Syndrome

  1. Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics 54:443-52 (1998).   Cloning of RecQ4.
  2. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999 22:82-4 (1999).   Identification of RTS mutations.

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Last updated: 09/06/05 by C. Carol