Links and References
Quick Links:
- General Links for Progeria Information
- References for Werner's syndrome
- Additional Information on Werner's syndrome
- References for Hutchinson-Gilford syndrome
- Additional Information on Hutchinson-Gilford syndrome
- References for Bloom's syndrome
- Additional Information on Bloom's syndrome
- Copyright and Site Information
General Information on Progeria and Health
The National Center for Biotechnology Information - A comprehensive resource on disease. Enter any progerian syndrome into this site's search string for one-stop access to most of the medical information on the web. An outstanding resource.
Online Mendalian Inheritance in Man - Another excellent resource. Enter the name of a progerian syndrome into the dearch string, and OMIM provides a fairly comprehensive review and links to further articles on the disease. This site is highly technical in nature, however, and may require a strong background in genetics to understand fully.
eMedicine.com - Another site that can be searched for an overview of most progeroid syndromes. The disease summaries are not as comprehensive as on OMIM, but are in slightly less technical language.
PubMed - The National Library of Medicine's searchable archive of over 15 million citations. A PubMed search will yield virtually everything written on a disease since the 1950s. Not all articles are archived online (although most recent journals are), but if there's a university nearby that lets the public use its libraries and journal collections, PubMed is a great place to get an idea on where to look for information.
References Used for Werner's Syndrome (WS) Information
Monika Puzianowska-Kuznicka and Jacek Kuznicki, Genetic alterations in accelerated ageing syndromes: Do they play a role in natural ageing?, The International Journal of Biochemistry & Cell Biology, 37(5):947-960. May 2005. Link.
Yamamoto, K., A. Imakiire, N. Miyagawa, T.A. Kasahara, Report of two cases of Werner's syndrome and review of the literature. Journal of Orthopaedic Surgery, 11(2):224–33 Dec 2003. Link.
George M. Martin, Genetic Modulation of Senescent Phenotypes in Homo sapiens, Cell, 120(4):523-532. 25 February 2005. Link.
Jae Wan Lee, Jeanine Harrigan, Patricia L. Opresko and Vilhelm A. Bohr, Pathways and functions of the Werner syndrome protein, Mechanisms of Ageing and Development, 126(1):79-86. January 2005. Link.
Chang-En Yu, Junko Oshima, Ying-Hui Fu, Ellen M. Wijsman, Fuki Hisama, Reid Alisch, Shellie Matthews, Jun Nakura, Tetsuro Miki, Samir Ouais, George M. Martin, John Mulligan, Gerard D. Schellenberg, Positional Cloning of the Werner's Syndrome Gene, Science 272(5259):258-262. Apr 1996. Link to Abstract.
Links to More Information on Werner's Syndrome (WS)
Werner's syndrome on OMIM - Provides extensive descriptions of features, history, genetics and pathogenesis of the disease.
U. Washington's Werner Research Page - Describes U. Washington's ongoing research into the disease, and provides links to the Internation Werner's Syndrome Patient Registry, which is hosted by U. Washington.
Werner's Syndrome - A brief WS overview.
Student Biotech Werner's Page - An easily understood summary of the disease. Unlike many links I cite, this one is in layman's language, and is therefore good for people without a technical background in medicine or biology.
References Used for Hutchinson-Gilford Syndrome (HGS) Information
Monika Puzianowska-Kuznicka and Jacek Kuznicki, Genetic alterations in accelerated ageing syndromes: Do they play a role in natural ageing?, The International Journal of Biochemistry & Cell Biology, 37(5):947-960. May 2005. Link.
Jansen, T., R.Romiti, Progeria Infantum (Hutchinson–Gilford Syndrome) Associated with Scleroderma-Like Lesions and Acro-Osteolysis: A Case Report and Brief Review of the Literature, Pediatric Dermatology, 17(4):282-285. July 2000.
Eriksson, M. et al. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome, Nature 423, 293-298 (2003) Letters to Nature Link.
Cefle, A. and K. Cefle, A case of mandibuloacral dysplasia presenting with features of scleroderma. International Journal of Clinical Practice 58(6): 635-638. (2004) Link.
Links to More Information on Hutchinson-Gilford Syndrome (HGS)
Hutchinson-Gilford Syndrome on OMIM - Provides extensive descriptions of features, history, genetics and pathogenesis of the disease. The language is technical, but the scope of the review is excellent.
The Progeria Research Foundation - A mostly-volunteer foundation committed to furthering research on Hutchinson-Gilford syndrome. Founded and run by relatives of a HG patient, the Foundation was responsible for the mapping of the LMNA gene, and now provides genetic tests to potential HGS patients to confirm the disease diagnosis.
Hutchinson-Gilford Progeria Syndrome Network - A site for news on HGS.
BBC News: "Family Tormented By Ageing Disease" - News article on an Indian family with several HGS children. Because the disease in this family appears genetic however, it may not be true HGS but a different syndrome with similar symptoms.
What is Progeria? - A description of the disease. Contains a large list of other progeroid diseases commonly mistaken for HGS.
References Used for Bloom's Syndrome (BS) Information
Monika Puzianowska-Kuznicka and Jacek Kuznicki, Genetic alterations in accelerated ageing syndromes: Do they play a role in natural ageing?, The International Journal of Biochemistry & Cell Biology, 37(5):947-960. May 2005. Link.
Inamadar, Arun C. and Palit, Aparna. Bloom Syndrome in an Indian Child. Pediatric Dermatology 22(2):147-150 (2005). Link.
Lindor et al. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. American Journal of Medical Genetics. 90(3):223-228. (2000) Link.
Chisholm, Christian A., Megan J. Bray, Logan B. Karns. Successful pregnancy in a woman with Bloom syndrome, American Journal of Medical Genetics. 102(2):136-138. (2001) Link.
Links to More Information on Bloom's Syndrome (BS)
Bloom's Syndrome on OMIM - Provides extensive descriptions of features, history, genetics and pathogenesis of the disease. The language is technical, but the scope of the review is excellent.
The Center for Jewish Genetic Diseases - A reference on BS aimed towards the Ashkenazi Jewish population in which the gene is prevalent.
BLMBase - A database and patient registry for BS patients run by the University of Tampere in Finland.
Genetic information and Patient Services - A fairly extensive overview of the disease. At the bottom of the page are several postal addresses for resources for Bloom patients.
Copyright, Disclaimer, and Site Information
Copyrights: All information on this site is the property of the journals and authors by whom it was originally published. The design of this site is the property of the webmaster. Please contact her with all questions or comments you might have. The photographs used to create the banner for this site are used with permission and are drawn from the Stock Exchange, a website archiving stock footage.
Disclaimer: The information provided on this site is intended for educational purposes only, and should not be used for diagnosis or treatment of any medical condition. We encourage you to talk to a licensed medical practitioner for diagnosis and treatment of any and all medical conditions. The views and opinions of authors expressed on this website do not necessarily state or reflect those of Cornell University.
Site Information: This site was constructed for NB420: The Quest for Agelessness, a class taught by Bruce Halpern at Cornell university. All information on this site is current to May 2005.
