Results 51 to 60 of about 82,601 (269)

Imbalanced globin chain synthesis determines erythroid cell pathology in thalassemic mice

Haematologica, 2009
Background β-thalassemia occurs from the imbalanced globin chain synthesis due to the absence or inadequate β-globin chain production. The excessive unbound α-globin chains precipitate in erythroid precursors and mature red blood cells leading to ...
Kanitta Srinoun, Saovaros Svasti, Worrakavee Chumworathayee, Jim Vadolas, Phantip Vattanaviboon, Suthat Fucharoen, Pranee Winichagoon   +6 more
doaj   +1 more source

A Novel High-Content Immunofluorescence Assay as a Tool to Identify at the Single Cell Level γ-Globin Inducing Compounds. [PDF]

PLoS ONE, 2015
The identification of drugs capable of reactivating γ-globin to ameliorate β-thalassemia and Sickle Cell anemia is still a challenge, as available γ-globin inducers still have limited clinical indications.
Marta Durlak, Cristina Fugazza, Sudharshan Elangovan, Maria Giuseppina Marini, Maria Franca Marongiu, Paolo Moi, Ivan Fraietta, Paolo Cappella, Paolo Cappella, Gloria Barbarani, Isaura Font-Monclus, Mario Mauri, Sergio Ottolenghi, Fabio Gasparri, Antonella Ronchi   +14 more
doaj   +1 more source

Enhanced Intracellular Stability and Translation Efficiency of mRNA Drugs by a 2‐arm mRNA Platform

Advanced Science, EarlyView.
We constructed a 2‐arm mRNA, characterized by a unique topology formed through the dimerization of two mRNA 3’ tails. The 2‐arm mRNA improves 3’ tail stability and resistance to nuclease degradation, resulting in an intracellular half‐life of up to 65 h. This method substantially enhances the translation capacity of mRNA drugs.
Xucong Teng, Jiahao Lin, Qiushuang Zhang, Xiangdong Zhang, Yicong Dai, Jinghong Li   +5 more
wiley   +1 more source

POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression

Cell Reports, 2018
Summary: Fetal globin genes are transcriptionally silenced during embryogenesis through hemoglobin switching. Strategies to derepress fetal globin expression in the adult could alleviate symptoms in sickle cell disease and β-thalassemia.
Bjorg Gudmundsdottir, Kristbjorn O. Gudmundsson, Kimberly D. Klarmann, Satyendra K. Singh, Lei Sun, Shweta Singh, Yang Du, Vincenzo Coppola, Luke Stockwin, Nhu Nguyen, Lino Tessarollo, Leifur Thorsteinsson, Olafur E. Sigurjonsson, Sveinn Gudmundsson, Thorunn Rafnar, John F. Tisdale, Jonathan R. Keller   +16 more
doaj   +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

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

βT87Q-Globin Gene Therapy Reduces Sickle Hemoglobin Production, Allowing for Ex Vivo Anti-sickling Activity in Human Erythroid Cells

Molecular Therapy: Methods & Clinical Development, 2020
Lentiviral addition of βT87Q-globin, a modified β-globin with an anti-sickling mutation, is currently being used in gene therapy trials for sickle cell disease (SCD) and β-thalassemia patients.
Selami Demirci, Bjorg Gudmundsdottir, Quan Li, Juan J. Haro-Mora, Tina Nassehi, Claire Drysdale, Morgan Yapundich, Jackson Gamer, Fayaz Seifuddin, John F. Tisdale, Naoya Uchida   +10 more
doaj   +1 more source

A Phylogenetic Analysis of the Globins in Fungi [PDF]

PLoS ONE, 2012
BACKGROUND: ALL GLOBINS BELONG TO ONE OF THREE FAMILIES: the F (flavohemoglobin) and S (sensor) families that exhibit the canonical 3/3 α-helical fold, and the T (truncated 3/3 fold) globins characterized by a shortened 2/2 α-helical fold. All eukaryote 3/3 hemoglobins are related to the bacterial single domain F globins. It is known that Fungi contain
Hoogewijs, D, Dewilde, S, Vierstraete, A, Moens, L, Vinogradov, S N   +4 more
openaire   +5 more sources

Gelling Properties of Globin-Succinylated Globin Conjugates.

NIPPON SHOKUHIN KOGYO GAKKAISHI, 1993
2種類のグロビン-サクシニル化グロビン複合体(CMHTとCUT)を調製し,各複合体のゲル特性について検討した.(1) CMHTはGの配合比率が高くなる程ゲル形成pHは中性の方へ拡大した.例えば, GとSGの配合率が3:7の場合,ゲル形成pHは2.0であったが,G:SG=9:1の場合,ゲルはpH 2.0～3.5の範囲で形成された.一方, G:SGの配合比率が7:3と9:1のCUTの場合,ゲル形成pHは極めて狭い範囲に限定された.(2) ゲルの透明度はCMHT, CUTともにより酸性側で高く,また,グロビンの配合比率が高くなる程透明度も高くなる傾向を示した.(3) 複合体ゲルのゲル強度を測定した. CMHTの場合, G:SG=5:5 (pH 2.0)で高いゲル強度が得られた.
MIYAGUCHI, Yuji, NAKAMURA, Toyoo, TAKABATAKE, Satoru, YONEKURA, Masami, TSUTSUMI, Masakazu   +4 more
openaire   +2 more sources

The role of non-coding RNAs in haemoglobin regulation [PDF]

, 2009
Non-coding RNAs appear to play a role in gene regulation by modulating chromatin structure. There is mounting evidence suggesting an essential role for non-coding RNAs in the complex process of the genetic regulation of the β-globin locus.
Trujillano Lidon, Daniel
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