Results 1 to 10 of about 513,881 (266)
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
doaj +2 more sources
Cogent Food & Agriculture, 2021 Zinc deficiency is among the leading risks to human health in sub-Saharan Africa, its adverse exposure leads to diarrhea, pneumonia, and malaria. Furthermore, it is the leading cause of stunting in children and negatively influences the human immune ...
Mashamba Philipo +2 more
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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 +5 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
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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 +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 Responses to Phosphorus Deficiency [PDF]
Annals of Botany, 2004 Phosphorus (P) is an essential macronutrient for plants. Plants take up P as phosphate (Pi) from the soil solution. Since little Pi is available in most soils, P fertilizers are applied to crops. However, the use of P fertilizers is unsustainable and may cause pollution.
John P, Hammond +2 more
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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
doaj +1 more source