Results 1 to 10 of about 2,863,419 (210)
Genetic Deficiency of the Macrophage Csf2ra Receptor Modulates Inflammatory Responses Following Cardiac Ischaemic Injury in Mice [PDF]
CellsMyocardial infarction (MI) triggers a robust inflammatory response that is essential for tissue repair but, when excessive or prolonged, drives pathological cardiac remodelling and heart failure.
Georgios Kremastiotis +7 more
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Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain
Biomedicines, 2023 Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (AOC1) gene can lead to low enzymatic activity or functionality in histamine metabolism.
Gülşah Okutan +8 more
doaj +2 more sources
A literature review and case report of severe hepatitis caused by the G6PD gene c.1478G>A muta-tion [PDF]
Yixue xinzhi zazhi, 2021 G6PD (glucose-6-phosphate dehydrogenase) deficiency is the most common enzyme deficiency disease in humans affecting over 500 million people worldwide, with most patients being children aged 2 to 10 years.
Jian LIU +5 more
doaj +1 more source
Genetics of NO Deficiency [PDF]
The American Journal of Cardiology, 2017 The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a key role in regulating cardiovascular homeostasis, and genetic variants allocated to NO-cGMP pathway genes, leading to NO-cGMP deficiency, may influence the prevalence or course of cardiovascular disease.
Kirsten, Leineweber +2 more
openaire +2 more sources
Research and Practice in Thrombosis and Haemostasis, 2021 Background Genetic deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are risk factors for venous thromboembolism. In the general population, the prevalence of heterozygous deficiency of AT, PC, and PS are reported as approximately 0 ...
Keiko Maruyama, Koichi Kokame
doaj +1 more source
Genetics of Coenzyme Q10 Deficiency [PDF]
Molecular Syndromology, 2014 Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is involved in crucial biochemical reactions such as the production of ATP in the mitochondrial respiratory chain, the biosynthesis of pyrimidines, and the modulation of apoptosis. CoQ10 requires at least 13 genes for its biosynthesis.
DOIMO, MARA +5 more
openaire +2 more sources
Genetic Deficiencies of Complement
Annals of Medicine, 1995 Genetic deficiencies of proteins of the complement system are associated with diverse clinical phenotypes. These clinical manifestations vary as a function of the specific component that is missing. Molecular and cellular biological methods, coupled with more intensive clinical studies, have defined the pathophysiological basis for this set of genetic ...
M L, Lokki, H R, Colten
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Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
Molecular Genetics & Genomic Medicine, 2021 Background Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin‐dependent carboxylase ...
Jia Geng +10 more
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Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Jornal de Pediatria, 2021 Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results.
Gesmar Rodrigues Silva Segundo
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SMAD6-deficiency in human genetic disorders
npj Genomic Medicine, 2022 SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ...
Ilse Luyckx +3 more
doaj +1 more source