Results 41 to 50 of about 607,752 (259)

Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing

Advanced Science, EarlyView.
A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +11 more
wiley   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Correction of Ineffective Erythropoiesis and Normalization of Iron Homeostasis After Exagamglogene Autotemcel in Transfusion‐Dependent β‐Thalassemia

American Journal of Hematology, EarlyView.
ABSTRACT Exagamglogene autotemcel (exa‐cel) is a one‐time, ex vivo, CRISPR‐Cas9 gene edited cell therapy approved for patients with transfusion dependent β‐thalassemia (TDT) aged 12–35 years. In a Phase 3 study (CLIMB THAL‐111), exa‐cel treatment resulted in reactivation of fetal hemoglobin and increases in total hemoglobin, leading to transfusion ...
Sujit Sheth, Selim Corbacioglu, Josu de la Fuente, Mattia Algeri, Joachim Rupprecht, Kevin H. M. Kuo, Ami J. Shah, Peter Lang, Hayley Merkeley, Ben Carpenter, Markus Y. Mapara, Robert I. Liem, Stephan Grupp, Yogi Chopra, Amanda M. Li, Janet L. Kwiatkowski, Melanie Kirby‐Allen, Maria Domenica Cappellini, Antonis Kattamis, Sakellarios Zairis, Tina Liu, William Hobbs, Haydar Frangoul, Franco Locatelli, Roland Meisel, on behalf of the CLIMB THAL‐111 and CLIMB‐131 Study Groups   +25 more
wiley   +1 more source

Transcriptional Repressors of Fetal Globin Genes as Novel Therapeutic Targets in Beta-Thalassemia [PDF]

, 2020
During development the human β-globin gene cluster undergoes two switching processes at the embryo-fetal and fetal-adult stages, respectively, involving changes in chromatin remodeling and in transcriptional regulatory networks. In particular, during the
Raffaele Sessa, Marianna De Martino, Michela Grosso, Mariarosaria Giuliano, Paola Izzo, Alessandra Lo Bianco, Silvia Trombetti, Rosa Catapano, Maria Rosaria Storino   +8 more
core   +1 more source

Therapeutic Silencing of Tmprss6 Reduces Iron‐Induced Inflammation and Prolongs Survival in MDS Mice

American Journal of Hematology, EarlyView.
ABSTRACT Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and an increased risk of progression to acute myeloid leukemia (AML). Despite advances in supportive and targeted therapies, disease‐modifying interventions remain limited.
Shahla Vilcassim, Nuttanan Pholngam, Rattanawan Thubthed, Tiwaporn Nualkaew, Saovaros Svasti, Pornthip Chaichompoo, Kai Kysenius, Peter J. Crouch, Sibylle Dames, Mona Eisermann, Alberto Martinez, Ute Schaeper, Jim Vadolas, George Grigoriadis   +13 more
wiley   +1 more source

The long-term efficacy and tolerability of oral deferasirox for patients with transfusion-dependent beta-thalassemia in Taiwan

, 2017
Deferasirox is a novel once-daily, oral iron chelator. The aim of this study was to evaluate the long-term efficacy and tolerability of deferasirox in Taiwanese patients with transfusion-dependent beta-thalassemia who have been treated with deferasirox ...
Chang, Hsiu-Hao;Lu, Meng-Yao;Peng, Steven Shinn-Forng;Yang, Yung-Li;Lin, Dong-Tsamn;Jou, Shiann-Tarng;Lin, Kai-Hsin, 林東燦;彭信逢;周獻堂;盧孟佑;張修豪;林凱信;楊永立   +1 more
core   +1 more source

Right ventricular volumes and function in thalassemia major patients in the absence of myocardial iron overload

, 2010
Aim: We aimed to define reference ranges for right ventricular (RV) volumes, ejection fraction (EF) in thalassemia major patients (TM) without myocardial iron overload.Methods and results: RV volumes, EF and mass were measured in 80 TM patients who had ...
Maciej Garbowski, He, TG, Maceira, A, Francisco Alpendurada, Banya Winston, He, T, Taigang He, Carpenter, JP, Smith, GC, Kirk, P, Shah, F, Maceira Alicia, Porter, JB, John B Porter, Banya, W, He Taigang, Walker, JM, Kirk Paul, Alicia Maceira, Alpendurada Francisco, Gillian C Smith, Porter John B, Smith Gillian C, Farrukh Shah, Pennell, DJ, Shah Farrukh, Pennell Dudley J, Deac Monica, Dudley J Pennell, Alpendurada, F, Paul Kirk, Winston Banya, Carpenter John-Paul, John-Paul Carpenter, Deac, M, J Malcolm Walker, Garbowski, M, Walker J Malcolm, Garbowski Maciej, Monica Deac   +39 more
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Rare double heterozygosity for poly A(A>G) and CD17(A>T) of beta thalassemia intermedia in a Chinese family

Hematology Reports, 2019
Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia.
Jianhong Xie, Yuqiu Zhou, Qizhi Xiao, Ruoting Long, Lianxiang Li, Lei Li   +5 more
doaj   +1 more source

Serum ferritin and hematological indices in thalassemia minor and nontransfusion dependent hemoghlobinopathy

Iraqi Journal of Hematology, 2021
BACKGROUND: Iron deficiency is not common in thalassemia minor and nontransfusion dependent hemoglobinophaties. The majority of these patients have normal-to-high serum ferritin. OBJECTIVES: The aims of the study were to evaluate serum ferritin levels in
Mehdi Dehghani, Parisa Karimzadeh, Nazanin Azadeh, Alirea Rezvani, Ali Kashkooe   +4 more
doaj   +1 more source