Literature DB >> 23524889

Werner syndrome: a changing pattern of clinical manifestations in Japan (1917~2008).

M Goto1, Y Ishikawa, M Sugimoto, Y Furuichi.   

Abstract

As ~75% of the Werner syndrome (WS) patients recognized between 1904 and 2008 all over the world are of Japanese origin, the most case reports and clinical studies on WS has been published in Japanese journals. Thus, the detailed English-written clinical review on the recent WS case reports has been warranted. Although WS has been characterized by a variety of clinical manifestations mimicking premature aging, the recent longevity and delayed age-associated manifestations observed both from Japanese WS and general population may suggest a common environmental effect on some gene(s) other than WRN and may give us a newer pathophysiological look at WS and also natural aging through the molecular dysfunction of WRN.

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Year:  2013        PMID: 23524889

Source DB:  PubMed          Journal:  Biosci Trends        ISSN: 1881-7815            Impact factor:   2.400


  41 in total

1.  A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies.

Authors:  Ruben Agrelo; Miguel Arocena Sutz; Fernando Setien; Fabian Aldunate; Manel Esteller; Valeria Da Costa; Ricardo Achenbach
Journal:  Epigenetics       Date:  2015       Impact factor: 4.528

Review 2.  Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

Authors:  Caterina Ferreli; Giulia Gasparini; Aurora Parodi; Emanuele Cozzani; Franco Rongioletti; Laura Atzori
Journal:  Clin Rev Allergy Immunol       Date:  2017-12       Impact factor: 8.667

Review 3.  G4-associated human diseases.

Authors:  Nancy Maizels
Journal:  EMBO Rep       Date:  2015-07-06       Impact factor: 8.807

Review 4.  Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

Authors:  George M Martin; Fuki M Hisama; Junko Oshima
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2021-01-18       Impact factor: 6.053

Review 5.  Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Authors:  Junko Oshima; Fuki M Hisama
Journal:  Gerontology       Date:  2014-01-03       Impact factor: 5.140

Review 6.  Human RecQ helicases in DNA repair, recombination, and replication.

Authors:  Deborah L Croteau; Venkateswarlu Popuri; Patricia L Opresko; Vilhelm A Bohr
Journal:  Annu Rev Biochem       Date:  2014-03-03       Impact factor: 23.643

7.  Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Authors:  Wenqing Fu; Alessio Ligabue; Kai J Rogers; Joshua M Akey; Raymond J Monnat
Journal:  Hum Mutat       Date:  2016-12-09       Impact factor: 4.878

8.  The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.

Authors:  Weiliang Tang; Ana I Robles; Richard P Beyer; Lucas T Gray; Giang H Nguyen; Junko Oshima; Nancy Maizels; Curtis C Harris; Raymond J Monnat
Journal:  Hum Mol Genet       Date:  2016-03-16       Impact factor: 6.150

Review 9.  WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Authors:  Koutaro Yokote; Sirisak Chanprasert; Lin Lee; Katharina Eirich; Minoru Takemoto; Aki Watanabe; Naoko Koizumi; Davor Lessel; Takayasu Mori; Fuki M Hisama; Paula D Ladd; Brad Angle; Hagit Baris; Kivanc Cefle; Sukru Palanduz; Sukru Ozturk; Antoinette Chateau; Kentaro Deguchi; T K M Easwar; Antonio Federico; Amy Fox; Theresa A Grebe; Beverly Hay; Sheela Nampoothiri; Karen Seiter; Elizabeth Streeten; Raul E Piña-Aguilar; Gemma Poke; Martin Poot; Renata Posmyk; George M Martin; Christian Kubisch; Detlev Schindler; Junko Oshima
Journal:  Hum Mutat       Date:  2016-10-07       Impact factor: 4.878

10.  Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients.

Authors:  Yoshiro Maezawa; Hisaya Kato; Minoru Takemoto; Aki Watanabe; Masaya Koshizaka; Takahiro Ishikawa; Forough Sargolzaeiaval; Masafumi Kuzuya; Hiroshi Wakabayashi; Takashi Kusaka; Koutaro Yokote; Junko Oshima
Journal:  Mol Syndromol       Date:  2018-05-15
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