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Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility

Author(s): Díaz-Muñoz C; Bozzarelli I; Lopera-Maya EA; Belbasis L; Lo Faro V; Camargo Tavares L; Heredia-Fernández F; Di Lorenzo B; Sinha T; Esteban Blanco C; Favé MJ; Awadalla P; Walters RG; Bonfiglio F; Zhernakova A; Sanna S; D' Amato M;

Background: Genetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders. Objective: To identify genes and mechanisms involved in gut motility, providing a foundation for cli ...

Article GUID: 41558814


Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood

Author(s): Won Kang JR; Kim YJ; Skead K; Soave D; Evans J; Bruat V; Harwood MP; Morris Q; Matovu E; Mulindwa J; Noyes H; McLeod A; Hazelhurst S; Lombard Z; Ramsay M; Fave MJ; Awadalla P;

Clonal hematopoiesis, through the age-associated accumulation of somatic mutations in blood, is strongly associated with hematological malignancies and other chronic diseases. These mutations have largely been characterized in individuals of European ancestry or environments, and consequently, it ...

Article GUID: 41282824


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