Literature DB >> 147113

Genetic syndromes in man with potential relevance to the pathobiology of aging.

G M Martin.   

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Year:  1978        PMID： 147113

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  80 in total

1.  Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs.

Authors:  R M Brosh; J K Karow; E J White; N D Shaw; I D Hickson; V A Bohr
Journal:  Nucleic Acids Res       Date:  2000-06-15       Impact factor: 16.971

Review 2.  Stochastic modulations of the pace and patterns of ageing: impacts on quasi-stochastic distributions of multiple geriatric pathologies.

Authors:  George M Martin
Journal:  Mech Ageing Dev       Date:  2011-09-22       Impact factor: 5.432

3.  WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Authors:  Katrin Friedrich; Lin Lee; Dru F Leistritz; Gudrun Nürnberg; Bidisha Saha; Fuki M Hisama; Daniel K Eyman; Davor Lessel; Peter Nürnberg; Chumei Li; María J Garcia-F-Villalta; Carolien M Kets; Joerg Schmidtke; Vítor Tedim Cruz; Peter C Van den Akker; Joseph Boak; Dincy Peter; Goli Compoginis; Kivanc Cefle; Sukru Ozturk; Norberto López; Theda Wessel; Martin Poot; P F Ippel; Birgit Groff-Kellermann; Holger Hoehn; George M Martin; Christian Kubisch; Junko Oshima
Journal:  Hum Genet       Date:  2010-05-05       Impact factor: 4.132

4.  Quantitative genetics of postponed aging in Drosophila melanogaster. II. Analysis of selected lines.

Authors:  E W Hutchinson; A J Shaw; M R Rose
Journal:  Genetics       Date:  1991-04       Impact factor: 4.562

Review 5.  Klotho, phosphate and FGF-23 in ageing and disturbed mineral metabolism.

Authors:  Makoto Kuro-o
Journal:  Nat Rev Nephrol       Date:  2013-06-18       Impact factor: 28.314

6.  Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A.

Authors:  Shurong Huang; Rosa Ana Risques; George M Martin; Peter S Rabinovitch; Junko Oshima
Journal:  Exp Cell Res       Date:  2007-08-16       Impact factor: 3.905

Review 7.  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

8.  Ku heterodimer binds to both ends of the Werner protein and functional interaction occurs at the Werner N-terminus.

Authors:  Parimal Karmakar; Carey M Snowden; Dale A Ramsden; Vilhelm A Bohr
Journal:  Nucleic Acids Res       Date:  2002-08-15       Impact factor: 16.971

9.  Effects of radical-scavenging enzymes and reduced oxygen exposure on growth and chromosome abnormalities of Werner syndrome cultured skin fibroblasts.

Authors:  D Salk; K Au; H Hoehn; G M Martin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Authors:  Davor Lessel; Ayse Bilge Ozel; Susan E Campbell; Abdelkrim Saadi; Martin F Arlt; Keisha Melodi McSweeney; Vasilica Plaiasu; Katalin Szakszon; Anna Szőllős; Cristina Rusu; Armando J Rojas; Jaime Lopez-Valdez; Holger Thiele; Peter Nürnberg; Deborah A Nickerson; Michael J Bamshad; Jun Z Li; Christian Kubisch; Thomas W Glover; Leslie B Gordon
Journal:  Hum Genet       Date:  2018-11-19       Impact factor: 4.132
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