Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.

Autor: Olson TS; Comprehensive Bone Marrow Failure Center and.; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Frost BF; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Duke JL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dribus M; Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, New Orleans, Louisiana, USA., Xie HM; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Prudowsky ZD; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Cancer and Hematology Center, Houston, Texas, USA., Furutani E; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts, USA., Gudera J; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum Munich, Munich, Germany., Shah YB; Comprehensive Bone Marrow Failure Center and.; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Ferriola D; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dinou A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pagkrati I; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kim S; Center for International Blood and Marrow Transplant Research and.; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Xu Y; Center for International Blood and Marrow Transplant Research and., He M; Center for International Blood and Marrow Transplant Research, National Marrow Donor Program/Be The Match, Minneapolis, Minneapolis, USA., Zheng S; Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Nijim S; Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lin P; Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Xu C; Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Parker Institute for Cancer Immunotherapy and Center for Cellular Immunotherapies, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, Colorado, USA., Oved JH; Comprehensive Bone Marrow Failure Center and.; Department of Pediatric Transplant and Cell Therapy, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Carreno BM; Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Parker Institute for Cancer Immunotherapy and Center for Cellular Immunotherapies, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bolon YT; Center for International Blood and Marrow Transplant Research, National Marrow Donor Program/Be The Match, Minneapolis, Minneapolis, USA., Gadalla SM; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USA., Marsh SG; Anthony Nolan Research Institute and University College London Cancer Institute, Royal Free Campus, London, United Kingdom., Paczesny S; Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA., Lee SJ; Center for International Blood and Marrow Transplant Research and.; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA., Monos DS; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Shimamura A; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts, USA., Bertuch AA; Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Cancer and Hematology Center, Houston, Texas, USA., Gragert L; Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, New Orleans, Louisiana, USA., Spellman SR; Center for International Blood and Marrow Transplant Research, National Marrow Donor Program/Be The Match, Minneapolis, Minneapolis, USA., Babushok DV; Comprehensive Bone Marrow Failure Center and.; Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: JCI insight [JCI Insight] 2022 Nov 22; Vol. 7 (22). Date of Electronic Publication: 2022 Nov 22.

Metformin for treatment of cytopenias in children and young adults with Fanconi anemia.

Autor: Pollard JA; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA.; Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA., Furutani E; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA.; Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA., Liu S; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Harvard Medical School, Boston, MA., Esrick E; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA., Cohen LE; Department of Pediatrics, Harvard Medical School, Boston, MA.; Department of Endocrinology, and., Bledsoe J; Department of Pathology, Boston Children's Hospital, Boston, MA., Liu CW; Department of Environmental Sciences and Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC., Lu K; Department of Environmental Sciences and Engineering, University of North Carolina at Chapel Hill, Chapel Hill, NC., de Haro MJR; Joint Research Unit UAB-Sant Pau Biomedical Research Institute,Institut de Recerca Hospital de la Santa Creu i Sant Pau-IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona Spain.; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain., Surrallés J; Joint Research Unit UAB-Sant Pau Biomedical Research Institute,Institut de Recerca Hospital de la Santa Creu i Sant Pau-IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona Spain.; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain., Malsch M; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA.; Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA., Kuniholm A; Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA., Galvin A; Clinical Research Operations Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA., Armant M; Trans Laboratory, Boston Children's Hospital, Boston, MA., Kim AS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Ballotti K; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA., Moreau L; Comprehensive Center for Fanconi Anemia, Dana-Farber Cancer Institute, Boston, MA., Zhou Y; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA., Babushok D; Division of Hematology-Oncology, University of Pennsylvania, Philadelphia, PA., Boulad F; Pediatric Hematology-Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY., Carroll C; Pediatric Hematology-Oncology, The Children's Hospital at TriStar Centennial, Nashville, TN., Hartung H; Pediatric Hematology-Oncology, Children's Hospital of Philadelphia, Philadelphia, PA., Hont A; Pediatric Hematology-Oncology, Children's National Medical Center, Washington, DC., Nakano T; Pediatric Hematology-Oncology, Children's Hospital Colorado, Denver, CO., Olson T; Pediatric Hematology-Oncology, Children's Hospital of Philadelphia, Philadelphia, PA., Sze SG; Department of Pediatrics, Maine Medical Center, Tufts University School of Medicine, Portland, ME., Thompson AA; Pediatric Hematology-Oncology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Wlodarski MW; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN., Gu X; 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 TA; 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 A; Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA., Grompe M; Oregon Stem Cell Center, Department of Pediatrics, Papé Family Institute, Oregon Health and Science University, Portland, OR; and., Weller E; Department of Pediatrics, Harvard Medical School, Boston, MA.; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Harvard Medical School, Boston, MA., Shimamura A; Pediatric Hematology-Oncology, Boston Children's Hospital, Boston, MA.; Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA.

Publikováno v: Blood advances [Blood Adv] 2022 Jun 28; Vol. 6 (12), pp. 3803-3811.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Autor: Khan AW; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy., Kennedy A; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Furutani E; Keros Therapeutics, Lexington, MA, USA., Myers K; Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, USA., Frattini A; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy.; Istituto di Ricerca Genetica e Biomedica, CNR, Milano, Italy., Acquati F; Dipartimento di Biotecnologie e Scienze della Vita, Università Dell'Insubria, Varese, Italy.; Centro di Medicina Genomica-Università dell'Insubria, Varese, Italy., Roccia P; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy., Micheloni G; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy., Minelli A; Genetica Medica, Fondazione IRCCS Policlinico S. Matteo and Università di Pavia, Pavia, Italy., Porta G; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy.; Centro di Medicina Genomica-Università dell'Insubria, Varese, Italy., Cipolli M; Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Cesaro S; Oncoematologia Pediatrica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Danesino C; Genetica Medica, Fondazione IRCCS Policlinico S. Matteo and Università di Pavia, Pavia, Italy., Pasquali F; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy., Shimamura A; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Valli R; Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università Dell'Insubria, Via J. H. Dunant, 5, 21100, Varese, Italy. roberto.valli@uninsubria.it.; Centro di Medicina Genomica-Università dell'Insubria, Varese, Italy. roberto.valli@uninsubria.it.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2021 Nov 24; Vol. 14 (1), pp. 54. Date of Electronic Publication: 2021 Nov 24.

On the relationship between inhibition and receptor occupancy by nondepolarizing neuromuscular blocking drugs.

Autor: Hoshino H; Department of Electrical Materials and Engineering, University of Hyogo, Hyogo, Japan. hoshino@eng.u-hyogo.ac.jp., Furutani E; Department of Electrical Materials and Engineering, University of Hyogo, Hyogo, Japan.; Department of Anesthesiology, Kagawa University, Kagawa, Japan.

Publikováno v: Theoretical biology & medical modelling [Theor Biol Med Model] 2021 Aug 21; Vol. 18 (1), pp. 15. Date of Electronic Publication: 2021 Aug 21.

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Autor: Kennedy AL; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Myers KC; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Bowman J; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Institute for Protein Innovation, Boston, MA, USA., Gibson CJ; Department of Medical Oncology, Division of Hematological Malignancies Dana-Farber Cancer Institute, Boston, MA, USA., Camarda ND; Dana-Farber Cancer Institute, Boston, MA, USA., Furutani E; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Muscato GM; Boston Children's Hospital, Boston, MA, USA., Klein RH; Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute, Boston, MA, USA., Ballotti K; Boston Children's Hospital, Boston, MA, USA., Liu S; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Harris CE; Boston Children's Hospital, Boston, MA, USA., Galvin A; Boston Children's Hospital, Boston, MA, USA., Malsch M; Boston Children's Hospital, Boston, MA, USA., Dale D; Department of Internal Medicine, University of Washington, Seattle, WA, USA., Gansner JM; Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Bertuch A; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Vlachos A; Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.; Zucker School of Medicine at Hofstra/Northwell School of Medicine, Hempstead, NY, USA., Lipton JM; Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.; Zucker School of Medicine at Hofstra/Northwell School of Medicine, Hempstead, NY, USA., Castillo P; Shands Children's Hospital, Department of Pediatrics, Division of Pediatric Hematology Oncology, University of Florida, Gainesville, FL, USA., Connelly J; Department of Pediatrics, Division of Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN, USA., Churpek J; Department of Medicine, Section of Hematology, Oncology, and Palliative Care, The University of Wisconsin-Madison, Madison, WI, USA., Edwards JR; Indiana Blood and Marrow Transplantation, Indianapolis, IN, USA., Hijiya N; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Ho RH; Department of Pediatrics, Division of Pediatric Hematology Oncology, Vanderbilt University Medical Center, Nashville, TN, USA., Hofmann I; Department of Pediatrics, Division of Pediatric Hematology/Oncology and BMT, University of Wisconsin, Madison, WI, USA., Huang JN; Department of Pediatrics, UCSF Benioff Children's Hospital, San Francisco, CA, USA.; Division of Pediatric Allergy, Immunology, and Blood & Marrow Transplantation, UCSF Benioff Children's Hospital, San Francisco, CA, USA., Keel S; Division of Hematology, Department of Medicine, University of Washington, Seattle, WA, USA., Lamble A; Division of Hematology-Oncology, Seattle Children's Hospital, Seattle, WA, USA., Lau BW; Dartmouth-Hitchcock Medical Center, Pediatric Hematology Oncology, Geisel School of Medicine, Lebanon, NH, USA.; Department of Medicine, University of Florida, Gainesville, FL, USA., Norkin M; Division of Cancer Medicine, Baptist MD Anderson Cancer Center, Jacksonville, FL, USA., Stieglitz E; Department of Pediatrics, UCSF Benioff Children's Hospital, San Francisco, CA, USA.; UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA., Stock W; Department of Medicine, University of Chicago, Chicago, IL, USA., Walkovich K; Division of Pediatric Hematology- Oncology, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA., Boettcher S; Department of Medical Oncology and Hematology, University Hospital Zurich and University of Zurich, Zurich, Switzerland., Brendel C; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Harvard Stem Cell Institute, Cambridge, MA, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Davies SM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Weller EA; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Bahl C; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Institute for Protein Innovation, Boston, MA, USA., Carter SL; Broad Institute, Boston, MA, USA.; Joint Center for Cancer Precision Medicine, Dana-Farber Cancer Institute/Brigham and Women's Hospital, Boston, MA, USA., Shimamura A; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Lindsley RC; Department of Medical Oncology, Division of Hematological Malignancies Dana-Farber Cancer Institute, Boston, MA, USA. Coleman_Lindsley@DFCI.HARVARD.EDU.

Publikováno v: Nature communications [Nat Commun] 2021 Feb 26; Vol. 12 (1), pp. 1334. Date of Electronic Publication: 2021 Feb 26.