VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.

Autor: Seu KG; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address: katie.giger@cchmc.org., Trump LR; Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Emberesh S; Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Lorsbach RB; Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Johnson C; Pediatric Hematology-Oncology Cook Children's Medical Center, Fort Worth, TX 76104, USA., Meznarich J; Division of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT 84113, USA., Underhill HR; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA; Department of Radiology, University of Utah, Salt Lake City, UT 84108, USA., Chou ST; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Sakthivel H; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Nassar NN; Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Seu KJ; Department of Chemistry, Earlham College, Richmond, IN 47374, USA., Blanc L; Laboratory of Developmental Erythropoiesis, Center for Autoimmune, Musculoskeletal and Hematopoietic Diseases, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Les Nelkin Memorial Pediatric Oncology Laboratory, Institute of Molecular Medicine, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Department of Molecular Medicine and Pediatrics, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Zhang W; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Laboratory of Genetics and Genomics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Lutzko CM; Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Hoxworth Blood Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Kalfa TA; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA. Electronic address: theodosia.kalfa@cchmc.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1149-1156. Date of Electronic Publication: 2020 Nov 12.

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.

Autor: Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, Wellendorf AM, Valencia CA, Paddison PJ, Horwitz MS, Grimes HL, Lutzko C, Cancelas JA

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2015 Aug 03; Vol. 125 (8), pp. 3103-16. Date of Electronic Publication: 2015 Jul 20.