Results 301 to 310 of about 1,262,664 (328)
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COMT genetic variants and pain
Drugs of Today, 2011Catechol-O-methyltransferase (COMT) metabolizes catechol neurotransmitters dopamine, noradrenaline and adrenaline that are involved in various physiological functions including mood, cognition and stress response. Human pain is closely related to all these functions.
Inna, Belfer, S, Segall
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Genetically encoded generators of genetic variants
Journal of Proteomics, 2009Several specific molecular mechanisms contribute to the generation of genetic variants at low rates. Some of these mechanisms involve the action of specific gene products as variation generators. We discuss here known as well as still hypothetical ways by which natural reality may succeed to keep the rates of genetic variation at low levels that insure
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Fibrinogen ‘Leuven’, Another Genetic Variant
British Journal of Haematology, 1974Summary. An in vitro coagulation defect, shown by a prolongation of the thrombin time and a discrepancy between fibrinogen determinations with different methods, is described in a young healthy female. The disturbance in the fibrinogen‐fibrin conversion, using different enzymes, persisted after purification of fibrinogen from plasma and was shown to ...
R, Verhaeghe +3 more
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Cystinuria: A New Genetic Variant
Clinical Science, 19761. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3.
A D, Stephens, D, Perrett
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Virology, 1961
Abstract Variants of phage T3 have been found that differ with regard to antigenic, morphological, and host range properties. One of these phages, designated as T3B, elicits the production of antibodies incapable of neutralizing another T3 strain, designated as T3C. Antisera against T3C, however, can inactivate both T3B and T3C.
A, EISENSTARK +2 more
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Abstract Variants of phage T3 have been found that differ with regard to antigenic, morphological, and host range properties. One of these phages, designated as T3B, elicits the production of antibodies incapable of neutralizing another T3 strain, designated as T3C. Antisera against T3C, however, can inactivate both T3B and T3C.
A, EISENSTARK +2 more
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Genetic variant of Stickler's syndrome
Archivos de la Sociedad Española de Oftalmología (English Edition), 2018Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene.Stickler's syndrome
P, Rocha Cabrera +5 more
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On Mouse Complement: Genetic Variants
The Journal of Immunology, 1969Abstract There are a number of polymorphic genes in mice which control the expression of hemolytic complement levels. The levels of hemolytic complement vary greatly within a non-inbred strain, CF-1, and there is a characteristic level of hemolytic complement activity for each inbred strain. Studies of progeny of crosses between selected
Rosenberg, L T, Tachibana, D K
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Apolipoprotein genetic variants and hereditary amyloidosis
Current Opinion in Lipidology, 2020Purpose of review Amyloidosis is caused by the deposition of misfolded aggregated proteins called amyloid fibrils that in turn cause organ damage and dysfunction. In this review, we aim to summarize the genetic, clinical, and histological findings in apolipoprotein-associated hereditary amyloidosis and the growing list of ...
Natasha, Jeraj +2 more
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Rare genetic variants and schizophrenia
Nature Neuroscience, 2016A study reports mutations in a histone methyltransferase gene, SETD1A, in schizophrenia patients and demonstrates that tens of thousands of people must be screened to provide robust evidence of a gene's involvement in schizophrenia.
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Genetic variants in adult liver diseases
Zeitschrift für Gastroenterologie, 2015In the last decades, understanding of genetic variants contributing to liver disease development has considerably improved through novel genotyping techniques. Genetic variants of single genes are known to be decisive for the development of monogenetic liver diseases of varying severity.
C, Dröge, D, Häussinger, V, Keitel
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