Results 41 to 50 of about 34,320 (185)

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

Haematologica, 2009
Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for β0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies.
Maria Carla Sollaino, Maria Elisabetta Paglietti, Lucia Perseu, Nicolina Giagu, Daniela Loi, Renzo Galanello   +5 more
doaj   +1 more source

Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity [PDF]

, 2017
Background: Human malaria susceptibility is determined by multiple genetic factors. It is unclear, however, which genetic variants remain important over time.Methods: Genetic associations of 175 high-quality polymorphisms within several malaria candidate
, Campino, Susana G, Clark, Taane G, Drakeley, Chris J, Hubbart, Christina, Jeffreys, Anna E, Lemnge, Martha, Lusingu, John P., Manjurano, Alphaxard, Olomi, Raimos, Riley, Eleanor M, Rockett, Kirk A, Rowlands, Kate, Sepúlveda, Nuno   +13 more
core   +3 more sources

Co-Inheritance of Heterozygous β⁰-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia

Thalassemia Reports, 2022
This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers ...
Hossein Jalali, Hossein Karami, Mohammad Reza Mahdavi, Mehrad Mahdavi   +3 more
doaj   +1 more source

MOESM1 of A validated cellular biobank for β-thalassemia

, 2016
Additional file 1: Table S1. List of the subjects (patients and healthy subjects) present in the Thal-Biobank.
Cosenza, Lucia, Breda, Laura, Breveglieri, Giulia, Zuccato, Cristina, Finotti, Alessia, Lampronti, Ilaria, Borgatti, Monica, Chiavilli, Francesco, Gamberini, Maria, Satta, Stefania, Manunza, Laura, Martis, Franca, Moi, Paolo, Rivella, Stefano, Gambari, Roberto, Bianchi, Nicoletta   +15 more
openaire   +1 more source

Emerging roles of telomeric chromatin alterations in cancer [PDF]

, 2019
Telomeres, the nucleoprotein structures that cap the ends of eukaryotic chromosomes, play important and multiple roles in tumorigenesis. Functional telomeres need the establishment of a protective chromatin structure based on the interplay between the ...
Biroccio, Annamaria, Cacchione, Stefano, Rizzo, Angela   +2 more
core   +1 more source

MOESM2 of A validated cellular biobank for β-thalassemia

, 2016
Additional file 2: Table S2. HbF and HbA2 production in ErPC cultures from 14 β-thalassemia patients after 4 and 8 days differentiation.
Cosenza, Lucia, Breda, Laura, Breveglieri, Giulia, Zuccato, Cristina, Finotti, Alessia, Lampronti, Ilaria, Borgatti, Monica, Chiavilli, Francesco, Gamberini, Maria, Satta, Stefania, Manunza, Laura, Martis, Franca, Moi, Paolo, Rivella, Stefano, Gambari, Roberto, Bianchi, Nicoletta   +15 more
openaire   +1 more source

High prevalence of alpha thalassemia in the tribal community of the western part of India! Reality or myth? Can simple hematology parameters; MCV and MCH act as screening tools at birth? [PDF]

, 2023
Background: The majority of adult tribal subjects in the western part of India, show microcytic hypochromic red cells, and borderline anemia with a normal iron profile, suggesting a high prevalence of thalassemia in this population.
Dhanani, Hiren J., Dhanani, Nandini H., Joshi, Sanmukh R., Patel, Ramesh Z., Tandel, Palak D., Vadodaria, Jankita K., Vaghani, Utsav P.   +6 more
core   +2 more sources

Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening [PDF]

, 1997
Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Chan, LC, Chan, YYA, Chui, DHK, Ha, SY, Lau, YL, Waye, JS, Yeung, CY   +6 more
core   +1 more source

Hematological and Genetic Predictors of Daytime Hemoglobin Saturation in Tanzanian Children with and without Sickle Cell Anemia. [PDF]

, 2013
Low hemoglobin oxygen saturation (SpO2) is common in Sickle Cell Anemia (SCA) and associated with complications including stroke, although determinants remain unknown.
Cox, Sharon E, Kirkham, Fenella J, Makani, Julie, Newton, Charles R, Prentice, Andrew M   +4 more
core   +5 more sources

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source