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. 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.
  3. 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.
  4. Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch H, Dorn T, Spiegel R, Oral EA, Abid M, Battisti C, Lucci-Cordisco E, Neri G, Steed EH, Kidd A, Isley W, Showalter D, Vittone JL, Konstantinow A, Ring J, Meyer P, Wenger SL, von Herbay A, Wollina U, Schuelke M, Huizenga CR, Leistritz DF, Martin GM, Mian IS and Oshima J. The spectrum of WRN mutations in Werner syndrome patients. Human Mutation 27: 558-567 (2006).   Clinical summary of Werner syndrome cases in the Registry
  5. Friedrich K, Lee L, Leistritz DF, Nurnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nurnberg P, Li C, Garcia FVMJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, Lopez N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C and Oshima J. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Human Genetics 128: 103-11 (2010).   WRN mutation update
  6. Rossi ML, Ghosh AK, Bohr VA. Roles of Werner syndrome protein in protection of genome integrity. DNA Repair (Amst). 9:331-44 (2010).   Recent review on the functions of WRN protein.


Atypical Werner Syndrome

  1. Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK and Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet 362: 440-445 (2003).


Hutchinson-Gilford Progeria

  1. Brown WT. Premature aging syndromes. Current Profiles in Dermatology 17:152-65 (1987).
  2. Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK and Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet 362: 440-445 (2003).
  3. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW and Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293-8 (2003).
  4. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 358: 592-604 (2008).


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Last updated: Nov/20/2017