Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: IRS1: G234G; rs2234931
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: IRS1: G234G; rs2234931
The Gly(972)Arg variant of human IRS1 gene is associated with variation in glomerular filtration rate likely through impaired insulin receptor signaling.
Diabetes
Thameem, Farook F; Puppala, Sobha S; Schneider, Jennifer J; Bhandari, Basant B; Arya, Rector R; Arar, Nedal H NH; Vasylyeva, Tetyana L TL; Farook, Vidya S VS; Fowler, Sharon S; Almasy, Laura L; Blangero, John J; Duggirala, Ravindranath R; Abboud, Hanna E HE
Publication Date: 2012-09
Variant appearance in text: IRS1: Gly234Gly; rs2234931
Is there a genetic cause of appetite loss?-an explorative study in 1,853 cancer patients.
Journal Of Cachexia, Sarcopenia And Muscle
Solheim, Tora S TS; Fayers, Peter M PM; Fladvad, Torill T; Tan, Ben B; Skorpen, Frank F; Fearon, Kenneth K; Baracos, Vickie E VE; Klepstad, Pål P; Strasser, Florian F; Kaasa, Stein S; ,