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Mitochondrial diseases: genetics
BioFactors, 1998According to the now widely-accepted endosymbiont hypothesis, mitochondria are the descendents of a bacterium that was “captured” early in evolution by a proto-eukaryote. Accordingly, this organelle is about the size of a bacterium (i.e., between 1–10 microns), and has many bacteria-like features.
E A, Schon, M H, Grossman
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Clinical Chemistry and Laboratory Medicine (CCLM)
Genetic diseases are a group of diseases caused by abnormalities in the human genetic material. This article discusses the main types of genetic diseases, their causes, mechanisms of development and possible consequences. Attention is also paid to modern methods of diagnostics and treatment of genetic diseases, as well as problems of genetic ...
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Genetic diseases are a group of diseases caused by abnormalities in the human genetic material. This article discusses the main types of genetic diseases, their causes, mechanisms of development and possible consequences. Attention is also paid to modern methods of diagnostics and treatment of genetic diseases, as well as problems of genetic ...
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Genetics of Dupuytren's disease
Joint Bone Spine, 2012Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe.
Michou, Laëtitia +5 more
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Current Opinion in Pediatrics, 1994
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
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Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa simplex.
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Genetics of Alzheimer’s disease
Essays in Biochemistry, 1998Mutations in any one of three genes can cause autosomal dominant, early-onset Alzheimer's disease: these genes are the amyloid precursor protein (APP) gene on chromosome 21, the presenilin-1 (PS-1) gene on chromosome 14 and the presenilin-2 (PS-2) gene on chromosome 1.
M, Hutton, J, Pérez-Tur, J, Hardy
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Distinguishing genetic disease and genetic susceptibility
American Journal of Medical Genetics, 1994AbstractWith the increasing awareness of the involvement of genetic factors in disease, questions arise as to what distinguishes genetic from non‐genetic disease, and what constitutes a genetic susceptibility. A general framework, reflecting the structure of biological explanations, is presented in which such distinctions can be made.
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Current Opinion in Genetics & Development, 2008
Nick, Hastie, Aravinda, Chakravarti
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Nick, Hastie, Aravinda, Chakravarti
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