Results 31 to 40 of about 1,048,085 (335)

Alpha and beta-Thalassemia mutations in Hubei area of China

BMC Medical Genetics, 2020
BackgroundThalassemia is a group of inherited hemoglobic disorders resulting from defectsin the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China.
Yao-wu Zhu, N. Shen, Xiong Wang, Juan Xiao, Yanjun Lu   +4 more
semanticscholar   +1 more source

A Strategy analysis for genetic association studies with known inbreeding [PDF]

, 2011
Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco, Biino, Ginevra, Cabras, Stefano, Castellanos, Maria Eugenia, Casula, Laura, Del Giacco, Stefano, Persico, Ivana, Pirastu, Mario, Pirastu, Nicola, Sassu, Alessandro   +9 more
core   +4 more sources

Identification of erythroferrone as an erythroid regulator of iron metabolism. [PDF]

, 2014
Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores.
Ganz, Tomas, Jung, Grace, Kautz, Léon, Nemeth, Elizabeta, Rivella, Stefano, Valore, Erika V   +5 more
core   +1 more source

Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents

AIMS Molecular Science, 2021
Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with HFE gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity.
Bhuvana Selvaraj, Sangeetha Soundararajan, Shettu Narayanasamy, Ganesan Subramanian, Senthil Kumar Ramanathan   +4 more
doaj   +1 more source

Mithramycin encapsulated in polymeric micelles by microfluidic technology as novel therapeutic protocol for beta-thalassemia [PDF]

, 2012
This report shows that the DNA-binding drug, mithramycin, can be efficiently encapsulated in polymeric micelles (PM-MTH), based on Pluronic® block copolymers, by a new microfluidic approach.
Brognara, Eleonora, Capretto, Lorenzo, Carugo, Dario, Gambari, Roberto, Hill, Martyn, Lampronti, Ilaria, Mazzitelli, Stefania, Nastruzzi, Claudio, Zhang, Xunli   +8 more
core   +2 more sources

Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Delta-beta Thalassemia is a rare variant of thalassemia with elevated Hb F. Heterozygous and homozygous state of delta-beta thalassemia present with features similar to Hereditary Persistence of Fetal Haemoglobin (HPFH) and beta thalassemia ...
Varun Kumar Singh, Pavithra Prabhakar, Sushma Belurkar, Chethan Manohar   +3 more
doaj  

The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]

, 2015
Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M, Campo-Fernandez, Beatriz, Cooper, Aaron R, Hoban, Megan D, Hollis, Roger P, Kaufman, Michael L, Kohn, Donald B, Lumaquin, Dianne, Romero, Zulema, Senadheera, Shantha, Urbinati, Fabrizia, Wang, Xiaoyan, Wherley, Jennifer   +12 more
core   +4 more sources

Beta-Thalassemia major and pregnancy

Bratislava Medical Journal, 2013
It was studied the clinical management and the medical outcomes of 6 pregnancies in 5 women affected by Beta Thalassemia major, based on last guidelines and pharmacological treatments.Paediatric Department and Department of Obstetrics and Gynaecology of the University of Catania.These patients were taken among a group of 116 women affected by beta ...
Gulino F. A., Vitale S. G., Fauzia M., Cianci S., Pafumi C., Palumbo M. A.   +5 more
openaire   +8 more sources

Evaluation of the levels of the markers of ineffective erythropoiesis (transforming growth factor-beta, growth differentiation factor 15 and erythropoietin) in patient with ß-thalassemia syndrome and its correlation to clinical and hematological parameters

Iraqi Journal of Hematology, 2022
BACKGROUND: Anemia of β thalassemia results from a combination of ineffective erythropoiesis and hemolysis. This stimulates erythropoietin (EPO) production, which causes expansion of the bone marrow and may lead to serious deformities of the skull and ...
May Hikmat Yousif, Hind Shaker Al-Mamoori   +1 more
doaj   +1 more source

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. [PDF]

, 2013
The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines.
Arányi, Tamás, Bacquet, Caroline, Boussac, Hugues de, Fülöp, Krisztina, Pomozi, Viola, Váradi, András   +5 more
core   +1 more source