Emerging Genetic Therapy for Sickle Cell Disease.
Annual Review of Medicine, 2019 The genetic basis of sickle cell disease (SCD) was elucidated >60 years ago, yet current therapy does not rely on this knowledge. Recent advances raise prospects for improved, and perhaps curative, treatment.
S. Orkin, D. E. Bauer
semanticscholar +1 more source
Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase [PDF]
, 2015 Background Statins are first-line therapy for cardiovascular disease prevention, but their systemic effects across lipoprotein subclasses, fatty acids, and circulating metabolites remain incompletely characterized.
Ala-Korpela, M +25 more
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Beta-Ketothiolase Deficiency: A Comprehensive Review of Genetic Variants and Pathophysiology [PDF]
Annals of Child NeurologyBeta-ketothiolase deficiency (BKD) is a rare autosomal recessive disorder caused by mutations in the ACAT1 gene, also known as mitochondrial acetoacetyl-coenzyme A thiolase (MAT) deficiency.
Sohit Kashyap +5 more
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BMC Medical Genomics, 2023 Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xiaorui Xie +6 more
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Genes and primary headaches: discovering new potential therapeutic targets [PDF]
, 2013 Genetic studies have clearly shown that primary headaches (migraine, tension-type headache and cluster headache) are multifactorial disorders characterized by a complex interaction between different genes and environmental factors.
De Martino, Paola +8 more
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A multi-factorial genetic model for prognostic assessment of high risk melanoma patients receiving adjuvant interferon [PDF]
, 2012 Purpose: IFNa was the first cytokine to demonstrate anti-tumor activity in advanced melanoma. Despite the ability of high-dose IFNa reducing relapse and mortality by up to 33%, large majority of patients experience side effects and toxicity which ...
Alessandro Monaco +9 more
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The molecular basis for ethnic variation and histological subtype differences in prostate cancer. [PDF]
, 2013 Prostate cancer is a common malignancy among men in Western countries. Recently the morbidity and mortality of prostate cancer increase dramatically in several oriental countries including China.
Goldstein, Andrew S +2 more
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The impact of phenotype, ethnicity and genotype on progression of Type 2 diabetes mellitus [PDF]
, 2020 Aim: To conduct a comprehensive review of studies of glycaemic deterioration in type 2 diabetes and identify the major factors influencing progression.Methods: We conducted a systematic literature search with terms linked to type 2 diabetes progression ...
Anjana, Ranjit M. +7 more
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New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]
, 2017 Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
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Hepatitis C virus pharmacogenomics in Latin American populations: implications in the era of direct-acting antivirals [PDF]
, 2017 In recent years, great progress has been made in the field of new therapeutic options for hepatitis C virus (HCV) infection. The new direct-acting antiviral agents (DAAs) represent a great hope for millions of chronically infected individuals because ...
Caputo, Mariela +4 more
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