المؤلفون: Alisha May, Telma Ventura, Antonella Fidanza, Helena Volmer, Helen Taylor, Nicola Romanò, Sunita L. D’Souza, James J. Bieker, Lesley M. Forrester

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: congenital dyserythropoietic anaemia, erythropoiesis, macrophage, induced pluripotent stem cell, disease modeling, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1148013/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/c88b612d1db749ba874de06480b3d793Test

المؤلفون: Emer Doolan, Andrea Ryan

المصدر: Case Reports in Ophthalmology, Vol 13, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: angioid streaks, congenital dyserythropoietic anaemia, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://www.karger.com/Article/FullText/521319Test; https://doaj.org/toc/1663-2699Test

الوصول الحر: https://doaj.org/article/d5c33190c3064630a43e32269617457fTest

المؤلفون: Shroff, Maithili, Knebel, Axel, Toth, Rachel, Rouse, John

المصدر: Shroff , M , Knebel , A , Toth , R & Rouse , J 2020 , ' A complex comprising C15ORF41 and Codanin-1- the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I) ' , Biochemical Journal , vol. 477 , no. 10 , pp. 1893-1905 . https://doi.org/10.1042/BCJ20190944Test

مصطلحات موضوعية: nuclease, congenital dyserythropoietic anaemia type I, complex, PD-(D/E)XK, disease, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1303, name=Biochemistry, /dk/atira/pure/subjectarea/asjc/1300/1307, name=Cell Biology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/2bb45c1f-1652-445e-834b-f2157eb25d0eTest

الإتاحة: https://doi.org/10.1042/BCJ20190944Test
https://discovery.dundee.ac.uk/en/publications/2bb45c1f-1652-445e-834b-f2157eb25d0eTest
https://discovery.dundee.ac.uk/ws/files/49657820/bcj_2019_0944.pdfTest
http://www.scopus.com/inward/record.url?scp=85085635988&partnerID=8YFLogxKTest

المؤلفون: Pellegrin, Stephanie, Haydn-Smith, Katy, Hampton-O'Neil, Lea, Hawley, Bethan, Heesom, Kate, Fermo, Elisa, Bianchi, Paola, Toye, Ash

المصدر: Pellegrin , S , Haydn-Smith , K , Hampton-O'Neil , L , Hawley , B , Heesom , K , Fermo , E , Bianchi , P & Toye , A 2019 , ' Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII ' , British Journal of Haematology , vol. 184 , no. 5 , pp. 876-881 . https://doi.org/10.1111/bjh.15189Test

مصطلحات موضوعية: erythropoiesis, erythroid cell differentiation, hereditary anaemias, congenital dyserythropoietic anaemia II, SEC23

وصف الملف: application/pdf

العلاقة: https://research-information.bris.ac.uk/en/publications/ee19629e-f9e9-468a-a95c-0c67f04e9748Test

الإتاحة: https://doi.org/10.1111/bjh.15189Test
https://hdl.handle.net/1983/ee19629e-f9e9-468a-a95c-0c67f04e9748Test
https://research-information.bris.ac.uk/en/publications/ee19629e-f9e9-468a-a95c-0c67f04e9748Test
https://research-information.bris.ac.uk/ws/files/162326493/Pellegrin_et_al_2018_British_Journal_of_Haematology.pdfTest
http://www.scopus.com/inward/record.url?scp=85043592676&partnerID=8YFLogxKTest

المؤلفون: Alisha May, Telma Ventura, Antonella Fidanza, Helena Volmer, Helen Taylor, Nicola Romanò, Sunita L. D’Souza, James J. Bieker, Lesley M. Forrester

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), congenital dyserythropoietic anaemia, erythropoiesis, macrophage, induced pluripotent stem cell, disease modeling

العلاقة: https://figshare.com/articles/dataset/Table1_Modelling_the_erythroblastic_island_niche_of_dyserythropoietic_anaemia_type_IV_patients_using_induced_pluripotent_stem_cells_DOCX/22586413Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1148013.s002Test
https://figshare.com/articles/dataset/Table1_Modelling_the_erythroblastic_island_niche_of_dyserythropoietic_anaemia_type_IV_patients_using_induced_pluripotent_stem_cells_DOCX/22586413Test

المؤلفون: Alisha May, Telma Ventura, Antonella Fidanza, Helena Volmer, Helen Taylor, Nicola Romanò, Sunita L. D’Souza, James J. Bieker, Lesley M. Forrester

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), congenital dyserythropoietic anaemia, erythropoiesis, macrophage, induced pluripotent stem cell, disease modeling

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Modelling_the_erythroblastic_island_niche_of_dyserythropoietic_anaemia_type_IV_patients_using_induced_pluripotent_stem_cells_PDF/22586410Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1148013.s001Test
https://figshare.com/articles/dataset/DataSheet1_Modelling_the_erythroblastic_island_niche_of_dyserythropoietic_anaemia_type_IV_patients_using_induced_pluripotent_stem_cells_PDF/22586410Test

المؤلفون: Kaladada I. Korubo, Boma A. West

المصدر: International Blood Research & Reviews. 9:1-6

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Congenital dyserythropoietic anaemia, Blood Disorder, business.industry, Dysplasia, Medicine, General Medicine, business, medicine.disease, Congenital dyserythropoietic anaemia type II

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb3ee6c0101862a189f0d4dfae36ea11Test
https://doi.org/10.9734/ibrr/2019/46976Test

المؤلفون: Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna

مصطلحات موضوعية: Inherited anaemia, Congenital dyserythropoietic anaemia, Molecular genetics, Pyruvate kinase deficiency, Next-generation sequencing

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: Roy, N. B. A., Wilson, E. A., Henderson, S., Wray, K., Babbs, C., Okoli, S., Atoyebi, W., Mixon, A., Cahill, M. R., Carey, P., Cullis, J., Curtin, J., Dreau, H., Ferguson, D. J. P., Gibson, B., Hall, G., Mason, J., Morgan, M., Proven, M., Qureshi, A., Sanchez Garcia, J., Sirachainan, N., Teo, J., Tedgård, U., Higgs, D., Roberts, D., Roberts, I. and Schuh, A. (2016) 'A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias', British Journal of Haematology, 175(2), pp. 318-330. DOI:10.1111/bjh.14221; 330; British Journal of Haematology; 318; http://hdl.handle.net/10468/8937Test; 175

الإتاحة: https://doi.org/10.1111/bjh.14221Test
http://hdl.handle.net/10468/8937Test

المؤلفون: John Rouse, Maithili Shroff, Axel Knebel, Rachel Toth

المصدر: Biochemical Journal

مصطلحات موضوعية: Heterochromatin, Cell Cycle Proteins, Biochemistry, Cell Line, PD-(D/E)XK, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, nuclease, DNA, Chromosomes & Chromosomal Structure, Molecular Biology, Gene, Research Articles, Anemia, Dyserythropoietic, Congenital, Glycoproteins, 030304 developmental biology, disease, 0303 health sciences, biology, DNA replication, Nuclear Proteins, CDAN1 Gene, Cell Biology, congenital dyserythropoietic anaemia type I, Chromatin, Cell biology, Histone, medicine.anatomical_structure, Cytoplasm, Multiprotein Complexes, Mutation, biology.protein, Bone marrow, complex, Molecular Chaperones, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09bb38b6ba26dd8d2d43e41e0c6fb75cTest
https://doi.org/10.1042/bcj20190944Test

المؤلفون: F. J. García‐Iñigo, Ana Pampín-Franco, Elena García-Zamora, Elena Naz-Villalba, José Luis López-Estebaranz

المصدر: Clinical and Experimental Dermatology. 45:515-517

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Congenital dyserythropoietic anaemia type I, Erythroblasts, business.industry, Kruppel-Like Transcription Factors, Vesicular Transport Proteins, Infant, Nails, Malformed, Nuclear Proteins, Bone Marrow Cells, Dermatology, Bone and Bones, Fingers, Nails, Mutation, Humans, Medicine, Syndactyly, business, Microtubule-Associated Proteins, Anemia, Dyserythropoietic, Congenital, Glycoproteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02d67f730a8d33c5cf6387ae8a0009aTest
https://doi.org/10.1111/ced.14154Test