Abstract

An International Reigstry of Werner Syndrome, supported for the past 8 years by an expiring NIH MERIT Award to Dr. Martin, will be expanded in order to: 1) ascertain and genotype additional pedigrees from around the world; 2) establish and cryopreserve lymphoblastoid cell lines,primary skin fibroblasts and SV40 transformed fibroblast cultures representative of a range of WRN mutations; 3) initiate a collection of sib-pairs (wild type versus heterozygotic carrier) for retrospective and long-term prospective studies of the susceptibility of heterozygotes to various types of neopolasms. All cell culture materials as well as red blood cells (for glycophorin mutation studies) will be made available to investigators associated with this Program-Project grant. Cultures rpresentative of a variety of mutations will also be made available to the general community of invetigators via deposits with the Institute Data Base will be established as a password-protected Local Area Network for Program-Project investigators and as a limited access vehicle for scientists and physicians.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Resource-Related Research Projects (R24)
Project #
5R24CA078088-02
Application #
2770001
Study Section
Subcommittee G - Education (NCI)
Program Officer
Marks, Cheryl L
Project Start
1997-09-30
Project End
2000-08-31
Budget Start
1998-09-01
Budget End
1999-08-31
Support Year
2
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of Washington
Department
Pathology
Type
Schools of Medicine
DUNS #
135646524
City
Seattle
State
WA
Country
United States
Zip Code
98195

  Publications

Lessel, Davor; Vaz, Bruno; Halder, Swagata et al. (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet 46:1239-44
Saha, Bidisha; Cypro, Alexander; Martin, George M et al. (2014) Rapamycin decreases DNA damage accumulation and enhances cell growth of WRN-deficient human fibroblasts. Aging Cell 13:573-5
Saha, Bidisha; Zitnik, Galynn; Johnson, Simon et al. (2013) DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations. Front Genet 4:129
Tadokoro, Takashi; Rybanska-Spaeder, Ivana; Kulikowicz, Tomasz et al. (2013) Functional deficit associated with a missense Werner syndrome mutation. DNA Repair (Amst) 12:414-21
Saha, Bidisha; Lessel, Davor; Nampoothiri, Sheela et al. (2013) Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. Mol Genet Genomic Med 1:7-14
Martin, George M (2012) Stochastic modulations of the pace and patterns of ageing: impacts on quasi-stochastic distributions of multiple geriatric pathologies. Mech Ageing Dev 133:107-11
Martin, George M (2012) Commentary: a gerontological perspective on Klaus Gärtner's discovery that phenotypic variability of mammals is driven by stochastic events. Int J Epidemiol 41:354-6
Hisama, Fuki M; Lessel, Davor; Leistritz, Dru et al. (2011) Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet A 155A:3002-6
Oshima, Junko; Lee, Jennifer A; Breman, Amy M et al. (2011) LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining. J Hum Genet 56:516-23
Martin, George M (2011) The biology of aging: 1985-2010 and beyond. FASEB J 25:3756-62

Showing the most recent 10 out of 34 publications