Results 1 to 10 of about 104,155 (284)

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis [PDF]

Frontiers in Genetics
Objectivesδ-thalassemia and δ-globin variants are rare hemoglobinopathies. However, co-inheritance of β-thalassemia and δ-globin gene mutations may affect the diagnosis of β-thalassemia carriers when based on the elevated Hb A2.
Youqiong Li, Lihua Ye, Liang Liang, Lihong Zheng, Yongjun Xiao, Zhongchan Lao, Jinping Bai, Xi He, Qixun Fang, Ting Qin   +9 more
doaj   +2 more sources

Exploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching [PDF]

Cells
β-globin gene cluster regulation involves complex mechanisms to ensure proper expression and function in RBCs. During development, switching occurs as γ-globin is replaced by β-globin.
Alawi Habara
doaj   +2 more sources

Variation in RNA-Seq transcriptome profiles of peripheral whole blood from healthy individuals with and without globin depletion. [PDF]

PLoS ONE, 2014
BackgroundThe molecular profile of circulating blood can reflect physiological and pathological events occurring in other tissues and organs of the body and delivers a comprehensive view of the status of the immune system.
Heesun Shin, Casey P Shannon, Nick Fishbane, Jian Ruan, Mi Zhou, Robert Balshaw, Janet E Wilson-McManus, Raymond T Ng, Bruce M McManus, Scott J Tebbutt, PROOF Centre of Excellence Team   +10 more
doaj   +2 more sources

Understanding erythroid physiology and pathology in humanized mice: A closer look. [PDF]

Br J Haematol
Erythropoiesis, the formation of red blood cells (RBCs) from haematopoietic stem cells (HSCs), is vital for understanding conditions like anaemia and haemoglobinopathies. However, studying this process in vivo is challenging due to the lack of accurate models.
Lu L, Liu C, Chen L, Zhang X, Su Y, Chou Z, Liang Y, Song Y.   +7 more
europepmc   +2 more sources

The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution [PDF]

BMC Evolutionary Biology, 2010
Background The lancelet amphioxus (Cephalochordata) is a close relative of vertebrates and thus may enhance our understanding of vertebrate gene and genome evolution.
Marden Michael C, Kiger Laurent, Vinogradov Serge N, Panopoulou Georgia, Ebner Bettina, Burmester Thorsten, Hankeln Thomas   +6 more
doaj   +6 more sources

Induction of adult levels of β-globin in human erythroid cells that intrinsically express embryonic or fetal globin by transduction with KLF1 and BCL11A-XL

Haematologica, 2014
A major barrier to the clinical use of erythrocytes generated in vitro from pluripotent stem cells or cord blood progenitors is failure of these erythrocytes to express adult hemoglobin.
Kongtana Trakarnsanga, Marieangela C. Wilson, Winnie Lau, Belinda K. Singleton, Steve F. Parsons, Punthita Sakuntanaga, Ryo Kurita, Yukio Nakamura, David J. Anstee, Jan Frayne   +9 more
doaj   +2 more sources

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Emine İkbal Atlı, Engin Atlı   +5 more
doaj   +1 more source

Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells.

Blood Advances, 2021
β-thalassemias (β-thal) are a group of blood disorders caused by mutations in the β-globin gene (HBB) cluster. β-globin associates with α-globin to form adult hemoglobin (HbA, α2β2), the main oxygen-carrier in erythrocytes.
G. Pavani, Anna Fabiano, Marine Laurent, F. Amor, E. Cantelli, A. Chalumeau, G. Maule, Alexandra Tachtsidi, J. Concordet, A. Cereseto, F. Mavilio, G. Ferrari, A. Miccio, Mario Amendola   +13 more
semanticscholar   +1 more source

Iron Metabolism in Normal and Pathological Pregnancies and Fetal Consequences

Metabolites, 2022
Iron is required for energy production, DNA synthesis, and cell proliferation, mainly as a component of the prosthetic group in hemoproteins and as part of iron-sulfur clusters.
Charles Mégier, Katell Peoc’h, Vincent Puy, Anne-Gaël Cordier   +3 more
doaj   +1 more source

A Globin in the Nucleus! [PDF]

Journal of Biological Chemistry, 2003
Cytoglobin and neuroglobin are recently discovered members of the globin family. In situ hybridization localized neuroglobin mainly in brain and retina, while cytoglobin was expressed ubiquitously in all analyzed tissues. In the present study, polyclonal antibodies were raised against both proteins and the distribution of them was studied by ...
Geuens, Eva, Brouns, Inge, Flamez, Daisy, Dewilde, Sylvia, Timmermans, Jean-Pierre, Moens, Luc   +5 more
openaire   +4 more sources