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1.
9 p, 1.0 MB Metformin for treatment of cytopenias in children and young adults with Fanconi anemia / Pollard, Jessica A. (Department of Pediatrics, Harvard Medical School, Boston, MA) ; Furutani, Elissa (Department of Pediatrics, Harvard Medical School, Boston, MA) ; Liu, Shanshan (Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Harvard Medical School, Boston, MA) ; Esrick, Erica (Department of Pediatrics, Harvard Medical School, Boston, MA) ; Cohen, Laurie E. (Department of Endocrinology, and) ; Bledsoe, Jacob (Department of Pathology, Boston Children's Hospital, Boston, MA) ; Liu, Chih-Wei (Department of Environmental Sciences and Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC) ; Lu, Kun (Department of Environmental Sciences and Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC) ; Ramírez de Haro, Ma. José (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Malsch, Maggie (Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA) ; Kuniholm, Ashley (Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA) ; Galvin, Ashley (Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA) ; Armant, Myriam (Trans Laboratory, Boston Children's Hospital, Boston, MA) ; Kim, Annette S. (Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA) ; Ballotti, Kaitlyn (Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA) ; Moreau, Lisa (Comprehensive Center for Fanconi Anemia, Dana-Farber Cancer Institute, Boston, MA) ; Zhou, Yu (Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA) ; Babushok, Daria (Division of Hematology-Oncology, University of Pennsylvania, Philadelphia, PA) ; Boulad, Farid (Pediatric Hematology-Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY) ; Carroll, Clint (Pediatric Hematology-Oncology, The Children's Hospital at TriStar Centennial, Nashville, TN) ; Hartung, Helge (Pediatric Hematology-Oncology, Children's Hospital of Philadelphia, Philadelphia, PA) ; Hont, Amy (Pediatric Hematology-Oncology, Children's National Medical Center, Washington, DC) ; Nakano, Taizo (Pediatric Hematology-Oncology, Children's Hospital Colorado, Denver, CO) ; Olson, Tim (Pediatric Hematology-Oncology, Children's Hospital of Philadelphia, Philadelphia, PA) ; Sze, Sei-Gyung (Department of Pediatrics, Maine Medical Center, Tufts University School of Medicine, Portland, ME) ; Thompson, Alexis A. (Pediatric Hematology-Oncology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL) ; Wlodarski, Marcin W. (Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN) ; Gu, Xuesong (Beth Israel Deaconess Medical Center Genomics, Proteomics, Bioinformatics and Systems Biology Center, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA) ; Libermann, Towia A. (Beth Israel Deaconess Medical Center Genomics, Proteomics, Bioinformatics and Systems Biology Center, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA) ; D'Andrea, Alan (Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA) ; Grompe, Markus (Oregon Stem Cell Center, Department of Pediatrics, Papé Family Institute, Oregon Health and Science University, Portland, OR; and) ; Weller, Edie (Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Harvard Medical School, Boston, MA) ; Shimamura, Akiko (Department of Pediatrics, Harvard Medical School, Boston, MA)
Fanconi anemia (FA), a genetic DNA repair disorder characterized by marrow failure and cancer susceptibility. In FA mice, metformin improves blood counts and delays tumor development. We conducted a single institution study of metformin in nondiabetic patients with FA to determine feasibility and tolerability of metformin treatment and to assess for improvement in blood counts. [...]
2022 - 10.1182/bloodadvances.2021006490
Blood advances, Vol. 6 (june 2022) , p. 3803-3811  
2.
59 p, 1.7 MB Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations / Kalba, Reinhard (University of Wurzburg. Department of Human Genetics) ; Neveling, Kornelia (University of Wurzburg. Department of Human Genetics) ; Hoehn, Holger (University of Wurzburg. Department of Human Genetics) ; Schneider, Hildegard (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Linka, Yvonne (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Batishb, Sat Dev (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hunt, Curtis (University of New Mexico. Division of Epidemiology) ; Berwick, Marianne (University of New Mexico. Division of Epidemiology) ; Callén Moréu, Elsa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (CIEMAT. Hematopoietic Gene Therapy Program) ; Bueren, Juan (CIEMAT. Hematopoietic Gene Therapy Program) ; Dasí, Ángeles (Hospital Universitari i Politècnic La Fe (València)) ; Soulier, Jean (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Gluckman, Eliane (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Zwaan, C. Michel (Erasmus MC Sophia Children's Hospital (Rotterdam). Department of Pediatric Hematology/Oncology) ; Van Spaendonk, Rosalina (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Pals, Gerard (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Joenje, Hans (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Grompe, Markus (Oregon Health and Science University, Department of Medical and Molecular Genetics) ; Auerbach, Arleen D. (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hanenberg, Helmut (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Schindler, Detlev (University of Wurzburg. Department of Human Genetics)
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 FA patients from 23 families and 4 additional unrelated patients to complementation group FA-D2. [...]
2007 - 10.1086/517616
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

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