Results 41 to 50 of about 2,406,008 (205)
European Journal of Human Genetics, 2006 Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP)
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Genetics of Alzheimer’s Disease [PDF]
BioMed Research International, 2013 Alzheimer’s disease is the most common form of dementia and is the only top 10 cause of death in the United States that lacks disease-altering treatments. It is a complex disorder with environmental and genetic components. There are two major types of Alzheimer’s disease, early onset and the more common late onset. The genetics of early-onset Alzheimer’
Ridge, Perry G. +2 more
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, 2011 Full text freely available at http://www.sciencemag.org/content/331/6020/1026.3.full or http://www.sciencemag.org/content/331/6020/1026.3.full.pdfInternational audienceThe sequencing of the human genome has been a major scientific adventure of the late ...
Rabeharisoa, Vololona
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FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases [PDF]
, 2009 Long-chain polyunsaturated fatty acids (LC-PUFAs) play an important role in several physiological processes and their concentration in phospholipids has been associated with several complex diseases, such as atopic disease.
Heinrich, Joachim +3 more
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Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
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Disease-specific, neurosphere-derived cells as models for brain disorders [PDF]
, 2010 There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses.
Abrahamsen, G. +29 more
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Chemical Genetics and Orphan Genetic Diseases [PDF]
Chemistry & Biology, 2005 Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward ...
Lunn, Mitchell R., Stockwell, Brent R.
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Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]
Childhood Kidney DiseasesWith the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
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Ironing out the details: Untangling dietary iron and genetic background in diabetes [PDF]
, 2018 The search for genetic risk factors in type-II diabetes has been hindered by a failure to consider dietary variables. Dietary nutrients impact metabolic disease risk and severity and are essential to maintaining metabolic health.
Lawson, Heather A, Miranda, Mario A
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Ageing And Cancer As Diseases Of Epigenesis [PDF]
, 2009 Cancer and ageing are often said to be diseases of development. During the past fifty years, the genetic components of cancer and ageing have been intensely investigated since development, itself, was seen to be an epiphenomenon of the genome.
Gilbert, Scott F.
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