The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Autor: Tummala H; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK. h.tummala@qmul.ac.uk.; Barts Health NHS Trust, London, UK. h.tummala@qmul.ac.uk., Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Badat M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Patel M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Walne AM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Alnajar J; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Chow CC; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Albursan I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Frost JM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Ballard D; Department of Analytical, Environmental & Forensic Sciences, Kings College London, Franklin-Wilkins Building, Stamford Street, London, SE1 9NH, UK., Killick S; Department of Haematology, Royal Bournemouth Hospital NHS Foundation Trust, Bournemouth, BH7 7DW, UK., Szitányi P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Prague, Czech Republic., Kelly AM; Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Raghavan M; Clinical Haematology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK., Powell C; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK., Raymakers R; University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands., Todd T; Department of Haematology, Royal Devon and Exeter Hospital, Exeter, EX2 5DW, UK., Mantadakis E; Department of Pediatrics' University General Hospital of Alexandroupolis, Democritus University of Thrace Faculty of Medicine, 6th Kilometer Alexandroupolis-Makris, 68 100 Alexandroupolis, Thrace, Greece., Polychronopoulou S; Department of Pediatric Hematology-Oncology, Aghia Sophia Children's Hospital, Athens, Greece., Pontikos N; Institute of Ophthalmology, Faculty of Brain Sciences, University College London, Gower St, London, WC1E 6BT, UK., Liao T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Madapura P; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Hossain U; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Dokal I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2024 Oct; Vol. 16 (10), pp. 2560-2582. Date of Electronic Publication: 2024 Aug 28.

Allogeneic Hematopoietic Cell Transplant For Bone Marrow Failure or Myelodysplastic Syndrome in Dyskeratosis Congenita/Telomere Biology Disorders: Single-Center, Single-Arm, Open-Label Trial of Reduced-Intensity Conditioning Without Radiation.

Autor: Dimitrov M; Division of Pediatric Hematology/Oncology, University of Minnesota, Minneapolis, Minnesota., Merkle S; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Cao Q; Biostatistics Core, Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota., Tryon RK; Department of Genetics, University of Minnesota, Minneapolis, Minnesota., Vercellotti GM; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Holtan SG; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Kao RL; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, Minnesota., Srikanthan M; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Terezakis SA; Department of Radiation Oncology, University of Minnesota, Minneapolis, Minnesota., Tolar J; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota. Electronic address: ebens012@umn.edu.

Publikováno v: Transplantation and cellular therapy [Transplant Cell Ther] 2024 Oct; Vol. 30 (10), pp. 1005.e1-1005.e17. Date of Electronic Publication: 2024 Jul 11.

Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report.

Autor: Du, Yuxi^1,2 (AUTHOR), Dang, Yalong^1,2 (AUTHOR) yalong.dang@gmail.com

Publikováno v: Case Reports in Ophthalmology. Jul2024, Vol. 15 Issue 1, p572-576. 5p. 2 Illustrations.

Dyskeratosis congenita: a rare case report.

Autor: Khattab, Seham¹ (AUTHOR), Nasser, Hisham¹ (AUTHOR), Al-Janabi, Moatasem Hussein² (AUTHOR) dr.3esami2022@gmail.com, Hasan, Fouz¹ (AUTHOR)

Publikováno v: Oxford Medical Case Reports. May2024, Vol. 2024 Issue 5, p1-4. 4p.

Severe Thrombocytopenia Due to Bone Marrow Failure in Children With Dyskeratosis Congenita Does Not Respond to Eltrombopag Treatment: Case Series.

Autor: Pramanik-Jonsson L; Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet.; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital., Borssén M; Department of Medical Biosciences, Umeå University.; Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden., Vonlanthen S; Department of Clinical Immunology and Transfusion Medicine, Medical Diagnostics Center, Karolinska University Hospital, Stockholm., Nilsson F; Department of Medical Biosciences, Umeå University.; Section of Pediatric Hematology and Oncology, Child and Adolescent Medical Center, University Hospital of Umeå, Umeå, Sweden., Sundin M; Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet.; Section of Pediatric Hematology, Immunology and HCT, Astrid Lindgren Children's Hospital.

Publikováno v: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Jan 01; Vol. 46 (1), pp. 57-62. Date of Electronic Publication: 2023 Oct 27.