Results 21 to 30 of about 2,406,008 (205)
Mitochondrial genetic diseases [PDF]
Current Opinion in Pediatrics, 2010 Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion.
Marni J, Falk, Neal, Sondheimer
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Journal of Biochemical and Clinical Genetics, 2021 Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal +7 more
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Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Autoimmune Disease Genetics [PDF]
Clinical and Developmental Immunology, 2012 Genetic risk factors play an important role in autoimmune disease susceptibility. Recent advances genotyping techniques, statistical methods, and the organization of large patient cohorts have facilitated explosive progress in this field, and our understanding of the genetic architecture of human autoimmunity is rapidly expanding.
Timothy B. Niewold +3 more
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Scientific Reports, 2017 The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide ...
Y. Liu +11 more
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Management of genetic diseases: Present and future
Revista de la Facultad de Medicina Humana, 2021 Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms ...
Hugo Hernán Abarca Barriga +2 more
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Graphical chain models for the analysis of complex genetic diseases: an application to hypertension [PDF]
, 2002 A crucial task in modern genetic medicine is the understanding of complex genetic diseases. The main complicating features are that a combination of genetic and environmental risk factors is involved, and the phenotype of interest may be complex ...
Di Serio, C., Vicard, P.
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Genetic neuromuscular disease [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2002 The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
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Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin
Biomedicines, 2022 Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under ...
Rita Puglisi
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Alzheimer disease genetic risk factor APOE e4, and cognitive abilities in 111,739 UK Biobank participants [PDF]
, 2016 Background: the apolipoprotein (APOE) e4 locus is a genetic risk factor for dementia. Carriers of the e4 allele may be more vulnerable to conditions that are independent risk factors for cognitive decline, such as cardiometabolic diseases.
Anderson, Jana +14 more
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