Results 31 to 40 of about 13,340,828 (402)
Current Opinion in Genetics & Development, 2011 Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Sarah E. Lloyd +2 more
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Genetics of Parkinson disease [PDF]
NeuroRX, 2004 Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 ...
Tatiana Foroud, Nathan Pankratz
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Infectious diseases and autoimmunity [PDF]
, 2011 Introduction: Autoimmunity occurs when the immune system recognizes and attacks host tissue. In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the ...
Deidda, Silvia +3 more
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Cracking the Monoubiquitin Code of Genetic Diseases
International Journal of Molecular Sciences, 2020 Ubiquitination is a versatile and dynamic post-translational modification in which single ubiquitin molecules or polyubiquitin chains are attached to target proteins, giving rise to mono- or poly-ubiquitination, respectively.
R. Sewduth, M. Baietti, A. Sablina
semanticscholar +1 more source
Genetic Diseases of Junctions [PDF]
Journal of Investigative Dermatology, 2007 Tight junctions, gap junctions, adherens junctions, and desmosomes represent intricate structural intercellular channels and bridges that are present in several tissues, including epidermis. Clues to the important function of these units in epithelial cell biology have been gleaned from a variety of studies including naturally occurring and engineered ...
John A. McGrath +3 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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Genetic Diseases of the Kennedy Pathway for Phospholipid Synthesis.
Journal of Biological Chemistry, 2020 The two branches of the Kennedy pathways (CDP-choline and CDP-ethanolamine) are the predominant pathways responsible for the synthesis of the most abundant phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively, in mammalian ...
M. Tavasoli +4 more
semanticscholar +1 more source
npj Genomic Medicine, 2018 Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established.
Michelle M. Clark +6 more
semanticscholar +1 more source
Prime Editing: Genome Editing for Rare Genetic Diseases Without Double-Strand Breaks or Donor DNA
Frontiers in Genetics, 2020 An article published in Nature (Anzalone et al., 2019) reports the development of a genome editing experimental approach that mediates all possible base-to-base conversions, “indels,” and combinations in human genome without the need of double-strand ...
I. Matsoukas
semanticscholar +1 more source
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.
Mohammed Tikly +3 more
openaire +3 more sources