Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.

Autor: Iskander D; Centre for Haematology, Department of Immunology & Inflammation, Imperial College London, London W12 0NN, UK. Electronic address: d.iskander@imperial.ac.uk., Roy NBA; Oxford University Hospitals NHS Foundation Trust and University of Oxford, OX3 9DU, UK., Payne E; UCL Cancer Institute, Dept of Hematology, London WC1 E6BT, UK; Dept of Hematology, University College Hospital London, NW1 2BU, UK., Drasar E; Whittington Health NHS Trust and University College Hospital London, N19 5NF, UK., Hennessy K; Department of Paediatrics, St. Mary's Hospital, Imperial College Healthcare NHS Trust, London W2 1NY, UK., Harrington Y; Department of Paediatrics, St. Mary's Hospital, Imperial College Healthcare NHS Trust, London W2 1NY, UK., Christodoulidou C; Centre for Haematology, Department of Immunology & Inflammation, Imperial College London, London W12 0NN, UK., Karadimitris A; Centre for Haematology, Department of Immunology & Inflammation, Imperial College London, London W12 0NN, UK., Batkin L; DBA, UK 71-73 Main Street, Palterton, Chesterfield, S44 6UR, UK., de la Fuente J; Department of Paediatrics, St. Mary's Hospital, Imperial College Healthcare NHS Trust, London W2 1NY, UK. Electronic address: josu.delafuente@nhs.net.

Publikováno v: Blood reviews [Blood Rev] 2023 Sep; Vol. 61, pp. 101097. Date of Electronic Publication: 2023 May 08.

Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.

Autor: Iskander D; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Wang G; Medical Research Council (MRC) Weatherall Institute of Molecular Medicine (WIMM) Centre for Computational Biology, University of Oxford, Oxford OX3 9DS, UK.; Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK., Heuston EF; Hematopoiesis Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-442, USA., Christodoulidou C; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Psaila B; Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK., Ponnusamy K; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Ren H; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Mokhtari Z; Ottawa Hospital Research Institute, 501 Smyth Box 511, Ottawa, ON K1H 8L6, Canada.; Department of Medicine II, Würzburg University Hospital, Interdisciplinary Center for Clinical Research (IZKF), Laboratory for Experimental Stem Cell Transplantation, Würzburg, Germany., Robinson M; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Chaidos A; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Trivedi P; Department of Histopathology, Imperial College Healthcare Trust, Du Cane Road, London W12 0HS, UK., Trasanidis N; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Katsarou A; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Szydlo R; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Palii CG; Ottawa Hospital Research Institute, 501 Smyth Box 511, Ottawa, ON K1H 8L6, Canada., Zaidi MH; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Al-Oqaily Q; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK., Caputo VS; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK.; School of Applied Sciences, London South Bank University, London SE1 0AA, UK., Roy A; Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK.; Department of Paediatrics, Children's Hospital, John Radcliffe, University of Oxford, Oxford OX3 9DU, UK., Harrington Y; Department of Paediatrics, Imperial College Healthcare Trust, St Mary's Hospital, Praed Street, London W2 1NY, UK., Karnik L; Department of Paediatrics, Imperial College Healthcare Trust, St Mary's Hospital, Praed Street, London W2 1NY, UK., Naresh K; Department of Histopathology, Imperial College Healthcare Trust, Du Cane Road, London W12 0HS, UK., Mead AJ; Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK., Thongjuea S; Medical Research Council (MRC) Weatherall Institute of Molecular Medicine (WIMM) Centre for Computational Biology, University of Oxford, Oxford OX3 9DS, UK., Brand M; Ottawa Hospital Research Institute, 501 Smyth Box 511, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, 501 Smyth Road, Ottawa, ON K1H 8L6, Canada., de la Fuente J; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK.; Department of Paediatrics, Imperial College Healthcare Trust, St Mary's Hospital, Praed Street, London W2 1NY, UK., Bodine DM; Hematopoiesis Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-442, USA., Roberts I; Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, NIHR Biomedical Research Centre, University of Oxford, Oxford OX3 9DS, UK.; Department of Paediatrics, Children's Hospital, John Radcliffe, University of Oxford, Oxford OX3 9DU, UK., Karadimitris A; Centre for Haematology, Department of Immunology and Inflammation, Imperial College London, London W12 0NN, UK.

Publikováno v: Science translational medicine [Sci Transl Med] 2021 Sep 08; Vol. 13 (610), pp. eabf0113. Date of Electronic Publication: 2021 Sep 08.

A novel nonsense RPS26 mutation in a patient with Diamond–Blackfan anemia: a case report.

Autor: Çalışkan Kamış, Şule¹ (AUTHOR) sulecaliskan87@yahoo.com, Çil, Metin¹ (AUTHOR), Yağcı, Begül¹ (AUTHOR), Anlaş, Özlem² (AUTHOR)

Publikováno v: Journal of Medical Case Reports. 11/20/2024, Vol. 18 Issue 1, p1-4. 4p.

Glomerular expression of matrix metalloproteinases in systemic lupus erythematosus in association with activity index and renal function.

Autor: Adamidis KN; a Private Hemodialysis Unit , 'Bionephros' , Athens , Greece., Kopaka ME; b Department of Pathology , Metropolitan Hospital , Athens , Greece., Petraki C; b Department of Pathology , Metropolitan Hospital , Athens , Greece., Charitaki E; c Department of Nephrology , General Hospital of Chania , Chania , Greece., Apostolou T; d Department of Nephrology , Evangelismos General Hospital , Athens , Greece., Christodoulidou C; d Department of Nephrology , Evangelismos General Hospital , Athens , Greece., Nikolopoulou N; d Department of Nephrology , Evangelismos General Hospital , Athens , Greece., Giatromanolaki A; e Department of Pathology , University Hospital of Alexandroupoli , Alexandroupolis , Greece., Vargemesis V; f Department of Nephrology , University Hospital of Alexandroupoli , Alexandroupolis , Greece., Passadakis P; f Department of Nephrology , University Hospital of Alexandroupoli , Alexandroupolis , Greece.

Publikováno v: Renal failure [Ren Fail] 2019 Nov; Vol. 41 (1), pp. 229-237.

Single-cell transcriptomics dissects the transcriptome alterations of hematopoietic stem cells in myelodysplastic neoplasms.

Autor: Zeng, Xiangzong^1,2 (AUTHOR), Wang, Yichen² (AUTHOR), Dai, Min³ (AUTHOR), Li, Wei² (AUTHOR), Huang, Qingtian² (AUTHOR), Qin, Lingsha² (AUTHOR), Li, Yuquan¹ (AUTHOR), Yan, Yanwen¹ (AUTHOR), Xue, Xiangjun¹ (AUTHOR), Yi, Fang¹ (AUTHOR), Li, Wenhao¹ (AUTHOR), He, Langyu⁴ (AUTHOR), Liu, Qifa³ (AUTHOR) liuqifa628@163.com, Qi, Ling² (AUTHOR) qiling1718@gzhmu.edu.cn

Publikováno v: Journal of Translational Medicine. 4/17/2024, Vol. 22 Issue 1, p1-15. 15p.