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Academic Journal

A synonymous variant is unmasked in thalassaemia.

  • Authors : Hunt RC; Hemostasis Branch, Division of Hemostasis, Office of Plasma Protein Therapeutics CMC, Office of Therapeutic Products, Center for Biologics Evaluation and Research, US FDA, Silver Spring, Maryland, USA.; Kimchi-Sarfaty C

Subjects: Thalassemia* ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/genetics; Humans

  • Source: British journal of haematology [Br J Haematol] 2024 Feb; Vol. 204 (2), pp. 399-401. Date of Electronic Publication: 2023 Nov 20.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Cellular and animal models for the investigation of β-thalassemia.

  • Authors : Nai A; Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, via Olgettina 60, Milan, Italy; Vita-Salute San Raffaele University, via Olgettina 58, Milan, Italy. Electronic address: .

Subjects: beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/genetics ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/therapy; Animals

  • Source: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2024 Jan; Vol. 104, pp. 102761. Date of Electronic Publication: 2023 May 30.Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A 2 from a cohort of 47336 individuals.

  • Authors : Lou J; Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, People's Republic of China.; Ye Y

Subjects: Hemoglobin A2*/Hemoglobin A2*/Hemoglobin A2*/genetics ; Hemoglobin A2*/Hemoglobin A2*/Hemoglobin A2*/analysis ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/diagnosis

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2023 Feb; Vol. 45 (1), pp. 90-95. Date of Electronic Publication: 2022 Aug 24.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

[Diagnostics and treatment of alpha- and beta-thalassemias].

Subjects: Thalassemia* ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/diagnosis ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/genetics

  • Source: Deutsche medizinische Wochenschrift (1946) [Dtsch Med Wochenschr] 2022 Sep; Vol. 147 (19), pp. 1250-1261. Date of Electronic Publication: 2022 Sep 20.Publisher: G. Thieme Country of Publication: Germany NLM ID: 0006723 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-4413

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Academic Journal

Exploring the crosstalk between long non-coding RNAs and microRNAs to unravel potential prognostic and therapeutic biomarkers in β-thalassemia.

  • Authors : Rahaman M; School of Medical Science and Technology, Indian Institute of Technology Kharagpur, Paschim Medinipur, Kharagpur, West Bengal, 721302, India.; Mukherjee M

Subjects: MicroRNAs*/MicroRNAs*/MicroRNAs*/genetics ; MicroRNAs*/MicroRNAs*/MicroRNAs*/metabolism ; RNA, Long Noncoding*/RNA, Long Noncoding*/RNA, Long Noncoding*/genetics

  • Source: Molecular biology reports [Mol Biol Rep] 2022 Jul; Vol. 49 (7), pp. 7057-7068. Date of Electronic Publication: 2022 Jun 18.Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978

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Academic Journal

Lentiviral globin gene therapy with reduced-intensity conditioning in adults with β-thalassemia: a phase 1 trial.

  • Authors : Boulad F; Stem Cell Transplant and Cellular Therapy Service, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Center for Cell Engineering, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Subjects: Genetic Vectors*; Genetic Therapy/Genetic Therapy/Genetic Therapy/*methods ; Globins/Globins/Globins/*genetics

  • Source: Nature medicine [Nat Med] 2022 Jan; Vol. 28 (1), pp. 63-70. Date of Electronic Publication: 2022 Jan 03.Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet

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Editorial & Opinion

Old versus new gene therapy for globin disorders.

  • Authors : Herzog RW; Department of Pediatrics, Gene and Cell Therapy Program, Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address: .; Bungert J

Subjects: Globins*/Globins*/Globins*/genetics ; beta-Thalassemia*; Genetic Therapy

  • Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2021 Jun 02; Vol. 29 (6), pp. 1933-1934. Date of Electronic Publication: 2021 May 07.Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome-wide analysis of pseudogenes reveals HBBP1's human-specific essentiality in erythropoiesis and implication in β-thalassemia.

  • Authors : Ma Y; State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Science, Chinese Academy of Medical Sciences (CAMS) & School of Basic Medicine, Peking Union Medical College (PUMC), Beijing 100005, China; Key Laboratory of RNA and Hematopoietic Regulation, Chinese Academy of Medical Sciences, Beijing 100005, China. Electronic address: .

Subjects: Pseudogenes*; Erythropoiesis/Erythropoiesis/Erythropoiesis/*genetics ; Globins/Globins/Globins/*genetics

  • Source: Developmental cell [Dev Cell] 2021 Feb 22; Vol. 56 (4), pp. 478-493.e11. Date of Electronic Publication: 2021 Jan 20.Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The regulation of human globin promoters by CCAAT box elements and the recruitment of NF-Y.

  • Authors : Martyn GE; School of Biotechnology and Biomolecular Sciences, University of New South Wales, NSW 2052, Australia.; Quinlan KGR

Subjects: Gene Expression Regulation* ; Response Elements*; CCAAT-Binding Factor/CCAAT-Binding Factor/CCAAT-Binding Factor/*metabolism

  • Source: Biochimica et biophysica acta. Gene regulatory mechanisms [Biochim Biophys Acta Gene Regul Mech] 2017 May; Vol. 1860 (5), pp. 525-536. Date of Electronic Publication: 2016 Oct 05.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731723 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1874-9399

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Academic Journal

[Research Progress on Thalassemia in Southern China -Review].

  • Authors : Yang Y; Genetic Diagnosis Center, The Affiliated Hospital of Kunming University of Science and Technology,Kunming 650032, Yunnan Province, China.; Zhang J

Subjects: beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/genetics ; beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/therapy; Globins/Globins/Globins/*genetics

  • Source: Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2017 Feb; Vol. 25 (1), pp. 276-280.Publisher: Zhongguo shi yan xue za zhi she Country of Publication: China NLM ID: 101084424 Publication Model: Print Cited Medium: Print ISSN:

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