Results 181 to 190 of about 20,035 (219)

DNA Damage and Repair in Thyroid Physiology and Disease.

Endocr Rev
Arczewska KD, Sys D, Nilsen HL, Piekiełko-Witkowska A.   +3 more
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Werner sindromo pasireiškimas dėl homozigotinio C.1578del varianto WRN gene: klinikinis ir molekulinis charakterizavimas bei literatūros apžvalga

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Genetic substructure in Latin American individuals reveals novel associations, mechanistic insights, and variable polygenic risk score transferability for alcohol traits

Montalvo-Ortiz J, Martínez-Magaña J, Brito DA, Trichia E, Rivera-Hernández M, Porras L, Sullivan K, Jacobson D, Kember R, Nuñez D, Torres J, Peterson R, Zhou H, Vlot A, Merlet J, Townsend A, Wells A, Alvarez C, Lane M, Alegre-Díaz J, Berumen J, Kuri-Morales P, Tapia-Conyer R, Emberson J, Kranzler H, Justice A, Gelernter J, Sanchez-Roige S, Wassertheil-Smoller S, Perreira K, Daviglus M, Nicolini H, Genis-Mendoza A, Villatoro-Velazquez J, Medina-Mora M, Bustos-Gamiño M, Belangero S, Santoro M, Rohde L, Bressan R, Miguel E, Pan P, Salum G, Tucker K, Ordovas J, Coletta D, Parra O, Klimentidis Y, Mandarino L, Moysés-Oliveira M, Tempaku P, Andersen M, Tufik S, Lancaster E, Singh M, Tusié-Luna M, Aguilar-Salinas C, Ochoa-Guzmán A, Pereira A, Martinez-Gonzalez K, Bulik C, Group SfSW, 23andMe Inc Research Team, Latin American Genomics Consortium, Atkinson E, Giusti-Rodríguez P.   +65 more
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WRN gene 1367 Arg allele protects against development of type 2 diabetes mellitus

Diabetes Research and Clinical Practice, 2005
Werner's syndrome is an autosomal recessive disease caused by mutation of the WRN gene, which may lead to DNA repair failure and acceleration of aging. A polymorphism at amino acid 1367 Cys (TTG)/Arg (CTG) reportedly reduces the risk of myocardial infarction in Japanese. We studied the possible involvement of this polymorphism in type 2 diabetes.
Masashi, Hirai, Susumu, Suzuki, Yoshinori, Hinokio, Takahiro, Yamada, Shinsuke, Yoshizumi, Chitose, Suzuki, Jo, Satoh, Yoshitomo, Oka   +7 more
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Werner Syndrome: Characterization of Mutations in the WRN Gene in an Affected Family

European Journal of Human Genetics, 1997
Affected and unaffected members of a Caucasian family with Werner syndrome were analyzed for mutations in the recently described Werner syndrome (WRN) gene and for their relevance to phenotypic expression of chromosomal instability and x-ray hypersensitivity. Two distinct molecular alterations were documented in the family.
Claudia Meisslitzer, Werner Ruppitsch, Helga Weirich‐Schwaiger, Harald G. Weirich, Jörg Jabkowsky, Georg Klein, Manfred Schweiger, Monica Hirsch‐Kauffmann   +7 more
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Impact of genetic variations in the WRN gene on age related pathologies and mortality

Mechanisms of Ageing and Development, 2006
Mutations in the WRN gene lead to the Werner syndrome (WS), which resembles premature aging. Here, we hypothesize that genetic variations in the WRN gene may also influence aging-trajectories in the population at large. To test this hypothesis, we assessed the impact of the i1-C/T, L1074F and C1367R polymorphisms in the WRN gene on the occurrence of ...
Maris Kuningas, P. Eline Slagboom, Rudi G. J. Westendorp, Diana van Heemst   +3 more
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Werner syndrome ( WRN ) gene variants and their association with altered function and age-associated diseases

Ageing Research Reviews, 2017
Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the human RECQ gene family that contains both a DNA exonuclease and a helicase domain.
Michel Lebel, Raymond J. Monnat
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A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome

Diabetes Care
OBJECTIVE Determining the cause of severe insulin resistance and early-onset diabetes in the case of a young woman in which a wide range of differential diagnoses did not apply. RESEARCH DESIGN AND METHODS Diagnostic workup including medical history,
Dominik Spira, Susanne Herbst, Sarina Schwartzmann, Véronique Dutrannoy, Elisabeth Steinhagen‐Thiessen, Ilja Demuth, Lukas Maurer, Knut Mai, Joachim Spranger, Stefan Mundlos, Thomas Bobbert   +10 more
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