المؤلفون: Li J; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Maternity and Child Health Hospital, Fuzhou, 350001, Fujian Province, People's Republic of China., Lv A; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Maternity and Child Health Hospital, Fuzhou, 350001, Fujian Province, People's Republic of China., Chen M; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Maternity and Child Health Hospital, Fuzhou, 350001, Fujian Province, People's Republic of China.; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People's Republic of China., Xu L; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Maternity and Child Health Hospital, Fuzhou, 350001, Fujian Province, People's Republic of China.; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People's Republic of China., Huang H; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Maternity and Child Health Hospital, Fuzhou, 350001, Fujian Province, People's Republic of China. huanghailong@fjmu.edu.cn.; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People's Republic of China. huanghailong@fjmu.edu.cn.

المصدر: Annals of hematology [Ann Hematol] 2024 Aug; Vol. 103 (8), pp. 2659-2670. Date of Electronic Publication: 2023 Oct 31.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

مواضيع طبية MeSH: beta-Thalassemia*/genetics , beta-Thalassemia*/therapy , beta-Thalassemia*/metabolism , Activating Transcription Factor 4*/metabolism , Activating Transcription Factor 4*/genetics , Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/biosynthesis , Fetal Hemoglobin*/metabolism, Humans ; Erythropoiesis ; Erythroid Cells/metabolism ; Animals ; gamma-Globins/genetics ; Cell Differentiation

المؤلفون: Satthakarn S; Faculty of Allied Health Sciences, Burapha University, Chonburi, Thailand., Panyasai S; Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, Thailand. Electronic address: sitthichai.pa@up.ac.th.

المصدر: Archives of medical research [Arch Med Res] 2024 Sep; Vol. 55 (6), pp. 103055. Date of Electronic Publication: 2024 Jul 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 9312706 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5487 (Electronic) Linking ISSN: 01884409 NLM ISO Abbreviation: Arch Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Promoter Regions, Genetic* , Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/metabolism , gamma-Globins*/genetics , Mutation* , beta-Thalassemia*/genetics , beta-Thalassemia*/blood , beta-Thalassemia*/diagnosis , alpha-Globins*/genetics , Polymorphism, Single Nucleotide*, Humans ; Male ; Female ; Adult ; Child ; Adolescent ; Hemoglobin E/genetics ; Child, Preschool ; Young Adult ; Middle Aged

المؤلفون: Khandros E; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Blobel GA; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

المصدر: Blood [Blood] 2024 Aug 22; Vol. 144 (8), pp. 845-852.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/metabolism, Humans ; Animals ; Anemia, Sickle Cell/genetics ; Anemia, Sickle Cell/therapy ; Anemia, Sickle Cell/metabolism ; beta-Thalassemia/genetics ; beta-Thalassemia/therapy ; beta-Thalassemia/metabolism ; Erythropoiesis/genetics ; beta-Globins/genetics ; beta-Globins/metabolism

المؤلفون: Sun Y; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Benmhammed H; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Al Abdullatif S; Single Cell Sequencing Core Facility, Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Habara A; Imam Abdulrahman Bin Faisal University, Department of Clinical Biochemistry, Dammam, Saudi Arabia., Fu E; Sargent College of Health and Rehabilitation Sciences, Boston University, Boston, MA, USA., Brady J; Sargent College of Health and Rehabilitation Sciences, Boston University, Boston, MA, USA., Williams C; Single Cell Sequencing Core Facility, Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Ilinski A; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Sharma A; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Mahdaviani K; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Alekseyev YO; Department of Pathology and Laboratory Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Campbell JD; Division of Computational Biomedicine, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Steinberg MH; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Cui S; Section of Hematology-Medical Oncology, Department of Medicine, Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.

المصدر: Science advances [Sci Adv] 2024 Aug 02; Vol. 10 (31), pp. eadn8750. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Sickle Cell*/drug therapy , Anemia, Sickle Cell*/metabolism , Anemia, Sickle Cell*/pathology , Fetal Hemoglobin*/metabolism , Fetal Hemoglobin*/genetics , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha*/metabolism , Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha*/genetics , Antisickling Agents*/pharmacology , Antisickling Agents*/therapeutic use, Animals ; Humans ; Mice ; Disease Models, Animal ; beta-Globins/genetics ; beta-Globins/metabolism

المؤلفون: Kahema SE; Mbarara University of Science and Technology, Mbarara, Uganda.; Morogoro College of Health and Allied Sciences, Morogoro, Tanzania., Mbulwa CH; Bugando Medical Centre, Mwanza, Tanzania., Bagenda CN; Mbarara University of Science and Technology, Mbarara, Uganda., Niyonzima N; Uganda Cancer Institute, Kampala, Uganda., Muwanguzi E; Mbarara University of Science and Technology, Mbarara, Uganda., Mcharo TL; Jakaya Kikwete Cardiac Institute, Dar es Salaam, Tanzania.

المصدر: PloS one [PLoS One] 2024 Jul 15; Vol. 19 (7), pp. e0286891. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Fetal Hemoglobin*/analysis , Fetal Hemoglobin*/metabolism , Anemia, Sickle Cell*/blood , Anemia, Sickle Cell*/complications , Anemia, Sickle Cell*/epidemiology , L-Lactate Dehydrogenase*/blood , Severity of Illness Index*, Humans ; Male ; Tanzania/epidemiology ; Female ; Child ; Cross-Sectional Studies ; Child, Preschool ; Adolescent ; Adult ; Young Adult ; Infant ; Middle Aged

المؤلفون: Caria CA; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Faà V; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Porcu S; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Marongiu MF; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Poddie D; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Perseu L; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Meloni A; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Vaccargiu S; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy., Ristaldi MS; Istituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.

المصدر: Cells [Cells] 2024 Jul 12; Vol. 13 (14). Date of Electronic Publication: 2024 Jul 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/metabolism , Genome-Wide Association Study* , Hemoglobin A2*/genetics , Hemoglobin A2*/metabolism, Animals ; Humans ; Mice ; Anemia, Sickle Cell/genetics ; Anemia, Sickle Cell/blood ; beta-Thalassemia/genetics ; beta-Thalassemia/blood ; Gene Expression Regulation ; beta-Globins

المؤلفون: Ting PY; Novartis Biomedical Research, Cambridge, MA, USA., Borikar S; Novartis Biomedical Research, Cambridge, MA, USA., Kerrigan JR; Novartis Biomedical Research, Cambridge, MA, USA., Thomsen NM; Novartis Biomedical Research, Cambridge, MA, USA., Aghania E; Novartis Biomedical Research, Cambridge, MA, USA., Hinman AE; Novartis Biomedical Research, Cambridge, MA, USA., Reyes A; Novartis Biomedical Research, Basel, Switzerland., Pizzato N; Novartis Biomedical Research, Basel, Switzerland., Fodor BD; Novartis Biomedical Research, Basel, Switzerland., Wu F; Novartis Biomedical Research, Basel, Switzerland., Belew MS; Novartis Biomedical Research, Cambridge, MA, USA., Mao X; Novartis Biomedical Research, Cambridge, MA, USA., Wang J; Novartis Biomedical Research, Cambridge, MA, USA., Chitnis S; Novartis Biomedical Research, Cambridge, MA, USA., Niu W; Novartis Biomedical Research, Cambridge, MA, USA., Hachey A; Novartis Biomedical Research, Cambridge, MA, USA., Cobb JS; Novartis Biomedical Research, Cambridge, MA, USA., Savage NA; Novartis Biomedical Research, Cambridge, MA, USA., Burke A; Novartis Biomedical Research, Cambridge, MA, USA., Paulk J; Novartis Biomedical Research, Cambridge, MA, USA., Dovala D; Novartis Biomedical Research, Emeryville, CA, USA., Lin J; Novartis Biomedical Research, Emeryville, CA, USA., Clifton MC; Novartis Biomedical Research, Emeryville, CA, USA., Ornelas E; Novartis Biomedical Research, Emeryville, CA, USA., Ma X; Novartis Biomedical Research, Emeryville, CA, USA., Ware NF; Novartis Biomedical Research, Cambridge, MA, USA., Sanchez CC; Novartis Biomedical Research, Cambridge, MA, USA., Taraszka J; Novartis Biomedical Research, Cambridge, MA, USA., Terranova R; Novartis Biomedical Research, Basel, Switzerland., Knehr J; Novartis Biomedical Research, Basel, Switzerland., Altorfer M; Novartis Biomedical Research, Basel, Switzerland., Barnes SW; Novartis Biomedical Research, San Diego, CA, USA., Beckwith REJ; Novartis Biomedical Research, Cambridge, MA, USA., Solomon JM; Novartis Biomedical Research, Cambridge, MA, USA., Dales NA; Novartis Biomedical Research, Cambridge, MA, USA., Patterson AW; Novartis Biomedical Research, Cambridge, MA, USA., Wagner J; Novartis Biomedical Research, Basel, Switzerland., Bouwmeester T; Novartis Biomedical Research, Basel, Switzerland., Dranoff G; Novartis Biomedical Research, Cambridge, MA, USA., Stevenson SC; Novartis Biomedical Research, Cambridge, MA, USA., Bradner JE; Novartis Biomedical Research, Cambridge, MA, USA.

المصدر: Science (New York, N.Y.) [Science] 2024 Jul 05; Vol. 385 (6704), pp. 91-99. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Sickle Cell*/drug therapy , Anemia, Sickle Cell*/metabolism , Antisickling Agents*/chemistry , Antisickling Agents*/pharmacology , Antisickling Agents*/therapeutic use , Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/metabolism , Kruppel-Like Transcription Factors*/metabolism , Nerve Tissue Proteins*/metabolism, Animals ; Humans ; Mice ; Adaptor Proteins, Signal Transducing/metabolism ; Adaptor Proteins, Signal Transducing/genetics ; Crystallography, X-Ray ; Drug Discovery ; Macaca fascicularis ; Proteolysis/drug effects ; Small Molecule Libraries/chemistry ; Small Molecule Libraries/pharmacology ; Small Molecule Libraries/therapeutic use ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitin-Protein Ligases/genetics

المؤلفون: Higgs D; Laboratory of Gene Regulation, MRC Weatherall Institute of Molecular Medicine, and Chinese Academy of Medical Sciences Oxford Institute, University of Oxford, Oxford, UK., Kassouf M; Laboratory of Gene Regulation, MRC Weatherall Institute of Molecular Medicine, and Chinese Academy of Medical Sciences Oxford Institute, University of Oxford, Oxford, UK.

المصدر: Science (New York, N.Y.) [Science] 2024 Jul 05; Vol. 385 (6704), pp. 27-28. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Sickle Cell*/drug therapy , Epigenesis, Genetic*/drug effects , Fetal Hemoglobin*/genetics , Antisickling Agents*/chemistry , Antisickling Agents*/pharmacology , Antisickling Agents*/therapeutic use, Animals ; Humans ; Mice ; Drug Discovery

المؤلفون: Taleb Brahim A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Taleb M; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Soumaré H; The African Centre of Excellence for Genomics of Infectious Diseases, Redeemer's University, 232101 Ede, Nigeria., Ghaber SM; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania.; Faculté de Médecine, de Pharmacie et d'Odonto-stomatologie, Université de Nouakchott, Nouveau Campus Universitaire, BP 880 Nouakchott, Mauritanie., Mohamed A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.; Department of Molecular Research, Maurilab Medical Analysis and Research Institute, 2434 Nouakchott, Mauritania., Ould Mohamed Salem Boukhary A; Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.

المصدر: Frontiers in bioscience (Scholar edition) [Front Biosci (Schol Ed)] 2024 Jun 12; Vol. 16 (2), pp. 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IMR Press Country of Publication: Singapore NLM ID: 101485241 Publication Model: Print Cited Medium: Internet ISSN: 1945-0524 (Electronic) Linking ISSN: 19450516 NLM ISO Abbreviation: Front Biosci (Schol Ed) Subsets: MEDLINE

مواضيع طبية MeSH: Fetal Hemoglobin*/genetics , Fetal Hemoglobin*/metabolism , Anemia, Sickle Cell*/genetics , Anemia, Sickle Cell*/blood , Polymorphism, Single Nucleotide* , Repressor Proteins*/genetics, Humans ; Female ; Male ; Adult ; Mauritania ; Genotype ; Nuclear Proteins/genetics ; Adolescent ; Carrier Proteins/genetics ; Young Adult ; Child

المؤلفون: Chatzilygeroudi T; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece.; Division of Hematological Malignancies, Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD, USA., Chondrou V; Biology Laboratory, School of Science and Technology, Hellenic Open University, Patras, Greece., Boers R; Department of Developmental Biology, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands., Siamoglou S; Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rio, Patras, Greece., Athanasopoulou K; Biology Laboratory, School of Science and Technology, Hellenic Open University, Patras, Greece., Verigou E; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece., Gribnau J; Department of Developmental Biology, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands., Alexis S; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece., Labropoulou V; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece., Kourakli A; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece., Patrinos GP; Department of Developmental Biology, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands.; Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rio, Patras, Greece.; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, UAE.; Zayed Center for Health Sciences, United Arab Emirates University, Al Ain, Abu Dhabi, UAE., Sgourou A; Biology Laboratory, School of Science and Technology, Hellenic Open University, Patras, Greece., Symeonidis A; School of Health Sciences, Faculty of Medicine, Hematology Division, University of Patras, Patras, Greece. argiris.symeonidis@yahoo.gr.

المصدر: Clinical epigenetics [Clin Epigenetics] 2024 Jun 15; Vol. 16 (1), pp. 79. Date of Electronic Publication: 2024 Jun 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BiomedCentral Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: Fetal Hemoglobin*/genetics , DNA Methylation*/drug effects , DNA Methylation*/genetics , Azacitidine*/pharmacology , Epigenesis, Genetic*/drug effects , Epigenesis, Genetic*/genetics , Myelodysplastic Syndromes*/drug therapy , Myelodysplastic Syndromes*/genetics, Humans ; Female ; Male ; Aged ; Middle Aged ; Prognosis ; Aged, 80 and over ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Antimetabolites, Antineoplastic/therapeutic use ; Antimetabolites, Antineoplastic/pharmacology