Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023 - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Circular RNA circPHKA2 Relieves OGD‐Induced Human Brain Microvascular Endothelial Cell Injuries through Competitively Binding miR‐574‐5p to Modulate SOD2

X Yang, X Li, C Zhong, J Peng, J Pang… - Oxidative Medicine …, 2021 - Wiley Online Library
Background. Circular RNA phosphorylase kinase regulatory subunit alpha 2 (circPHKA2;
hsa_circ_0090002) has a significantly, specifically different expression in acute ischemic …

SOD2 V16A amplifies vascular dysfunction in sickle cell patients by curtailing mitochondria complex IV activity

A Dosunmu-Ogunbi, S Yuan… - Blood, The Journal …, 2022 - ashpublications.org
Abstract Superoxide dismutase 2 (SOD2) catalyzes the dismutation of superoxide to
hydrogen peroxide in mitochondria, limiting mitochondrial damage. The SOD2 amino acid …

[HTML][HTML] Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years

J Dorneles, A de Menezes Mayer, JAB Chies - Hematology Reports, 2025 - mdpi.com
A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic
disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD …

Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis

A Kumari, G Chauhan, PK Chaudhuri, S Kumari… - …, 2024 - Taylor & Francis
Sickle cell anemia (SCA) is the most common cause of stroke in children. As it is a rare
disease, studies investigating the association with complications like stroke in SCD have …

Genetic variations of antioxidant genes and their association with male infertility in Vietnamese men

HA Bach, PN Vu, THT Ma, HH Nguyen… - Journal of Clinical …, 2023 - Wiley Online Library
Background Antioxidant genes, such as superoxide dismutase (SOD), catalase (CAT), and
nitric oxide synthase (NOS), play critical roles in spermatogenesis and sperm functions …

[HTML][HTML] Impact of Superoxide Dismutase genetic polymorphism (SOD2 Val16Ala) and Superoxide Dismutase level on disease severity in a cohort of Egyptian sickle …

MM Khorshied, IA Shaheen, YMM Selim… - … of Hematology and …, 2022 - ncbi.nlm.nih.gov
Background Oxidative stress plays a pivotal role in the pathophysiology of sickle cell
disease (SCD) and its associated disease complications. Superoxide Dismutases (SODs) …

A-296G variant of THBS1 gene (rs1478605) is associated with a lower frequency of stroke in a Brazilian population with sickle cell anemia

JMF Oliveira, GS Arcanjo, IF Domingos… - Journal of Stroke and …, 2024 - Elsevier
Objectives Stroke is a devastating clinical outcome that significantly contributes to the
morbidity and mortality of sickle cell anemia (SCA) patients. Despite its advantages in …

Genetic variants associated with the risk of stroke in sickle cell disease: a systematic review and meta-analysis

A Kumari, G Chauhan, PK Chaudhuri, A Prasad - medRxiv, 2023 - medrxiv.org
Background: Sickle cell disease (SCD) is the commonest cause of stroke in children. As it is
a rare disease, studies investigating the association with complications like stroke in SCD …

Analytical Validation of SOD2 Genotyping

M Debeljak, S Riel, MT Lin, JR Eshleman… - Methods and …, 2022 - mdpi.com
Manganese superoxide dismutase-2 (SOD2) plays a crucial role in cells' protection against
mitochondrial oxidative damage. A genetic polymorphism in the mitochondrial targeting …