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Genetic Variants of Adrenoceptors

2023
Adrenoceptors are class A G-protein-coupled receptors grouped into three families (α1-, α2-, and β-adrenoceptors), each one including three members. All nine corresponding adrenoceptor genes display genetic variation in their coding and adjacent non-coding genomic region. Coding variants, i.e., nucleotide exchanges within the transcribed and translated
Andrea, Ahles, Stefan, Engelhardt
openaire   +2 more sources

COMT genetic variants and pain

Drugs of Today, 2011
Catechol-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
openaire   +2 more sources

Genetically encoded generators of genetic variants

Journal of Proteomics, 2009
Several 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
openaire   +3 more sources

On Mouse Complement: Genetic Variants

The Journal of Immunology, 1969
Abstract 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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Genetic variant of Stickler's syndrome

Archivos de la Sociedad Española de Oftalmología (English Edition), 2018
Three 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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Genetic variants of phage T3

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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Cystinuria: A New Genetic Variant

Clinical Science, 1976
1. 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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Rare genetic variants and schizophrenia

Nature Neuroscience, 2016
A 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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A New Genetic Variant for Chido

Vox Sanguinis, 1984
A new and distinct partial inhibition pattern was observed for Chido during routine typing; it is found in 3% of random samples, shows recessive inheritance and is linked to HLA. Polyspecificity in anti-Ch reagents, selected to detect partial inhibition, is demonstrated.
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