Results 81 to 90 of about 1,145,402 (246)

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia [PDF]

, 2016
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule.
Batalha-Reis, Ana, Coelho, Andreia, Faustino, Paula, Ferrão, José, Forjaz-Lacera, João, Gomes, Susana, Gonçalves, João, Gonçalves, Lúcia, Kjollerstrom, Paula, Lavinha, João, Maia, Raquel, Miranda, Armandina, Pina, Francisca, Seuanes, Filomena, Silva, Marisa, Sonesson, A., Valtonen-Andrá, C.   +16 more
core  

Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia

International Journal of Molecular Sciences, 2017
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as ...
Diego Velasco-Rodríguez, C. Blas, J. Alonso‐Dominguez, G. Vega, C. Soto, A. García-Raso, P. Llamas-Sillero   +6 more
semanticscholar   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Comparative frequency of Coagulation Factor II and Coagulation Factor V Alleles among new-born and senior citizens [PDF]

, 2005
Resistance to activated protein C is one of the most common inherited disorders associated with hereditary thrombophilia. A missense mutation in the gene coding for coagulation factor V (CF V Leiden) and which renders this procoagulant factor resistant ...
Abela Medici, Joseph, Bezzina Wettinger, Stephanie, Felice, Alex, Grochowska, Alicha, Scerri, Christian A.   +4 more
core  

The Ticking Clock: Differential Time‐Dependent Deterioration Between Washed and Thawed Sperm

Andrology, EarlyView.
ABSTRACT Background Cryopreservation is widely used in assisted reproductive technologies. While fresh sperm undergoes gradual time‐dependent deterioration, it remains unclear whether thawed sperm exhibits a more accelerated decline. Objectives To directly compare the rate of deterioration in sperm motility, vitality, and DNA fragmentation between ...
Adiel Kahana, Emily Hamilton, Noga Fuchs Weizman, Sandra E. Kleiman, Shlomit Shabat, Foad Azem, Shimi Barda   +6 more
wiley   +1 more source

Molecular and Hematological Characterization of α-Thalassemia in Denizli Province

Acta Haematologica Oncologica Turcica
Aim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the α-globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes.
Derya Karaer, Tuba Uğurlu Er, Nevin Alayvaz Aslan, Taner Durak   +3 more
doaj   +1 more source

Multitest Screening in Hematology [PDF]

, 1973
The concept of multitest screening for hematological disorders is not necessarily a new one. Implementation of such ideas has recently become possible, for the automated electronic instruments performing sequential multiple analyses within very short ...
Johnston, Charles L., Jr.
core   +1 more source

An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on P. Vivax Parasitemia

Mediterranean Journal of Hematology and Infectious Diseases, 2018
Background The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established.
Suparak Para, Punchalee Mungkalasut, Makamas Chanda, I. Nuchprayoon, S. Krudsood, C. L. Cheepsunthorn   +5 more
semanticscholar   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source