Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P21817 (RyR1)
 1,154 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two different population samples in Holland--one consisting of 1,093 boys from a technical school and the other of 493 male and 416 female students--were analysed for the presence of red-green colour vision defects. A total percentage of 7.3 for the male population was found. Based on the combined results of the Ishihara and HRR pseudoisochromatic plates, the Farnsworth 15-hue test and the anomaloscope, a subdivision of the deuteranomalous individuals into 3 subgroups is made. It is suggested that the differences between these groups may be genetic in nature and that the actual number of different genetic entities may still be greater.
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PMID:Frequencies of different types of colour vision defects in the Netherlands. 30 59

14 patients with maculopathy (18 eyes affected, 10 eyes clinically normal) were examined using the HRR plates, the Farnsworth F2 (tritan) plate, the Farnsworth panel D15 test, the Nagel anomaloscope (model I) and on a 'blue-green' equation for 2 degrees and 11 degrees fields on the Moreland anomaloscope. The correlation of tritan-like responses to each test and the differences between the 2 degrees and 11 degrees equations are discussed.
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PMID:Acquired 'tritan' deficiencies in macular pathology. 31 44

As an exploratory study six colour vision tests were given to nine male and two female achromats from the Shankhabanik community in Bishnupur, and to two additional similar males. All thirteen subjects had severe photophobia, fixation nystagmus, extreme weakness of vision (4/24 to 3/60) and the red end of the spectrum was much shortened. This research indicates that they had a form of incomplete achromatopsia, varying from an almost complete to a very severe partial loss of colour vision. The condition is inherited as an autosomal recessive. The most likely interpretation of these cases is that they are incomplete rod achromats. Their performance on the colour vision tests is tabulated, and shows complete inability to do the Ishihara test; nearly complete inability on the HRR test, with a possible slight tendency to do better in the yellow-blue than the red-green sub-tests; on Sloan's test they show approximate accordance with her results for achromats; they have severe difficulty with the dichotomous and 100-hue tests, with a possible slight tendency to make fewer errors on the G/B sections. The anomaloscope shows little abnormality of mid-matching points, but great increases in average matching ranges above the normal, although not absolute loss of colour sense, but with extreme darkening or shortening of the red end of the spectrum. Their colour naming was carefully recorded, and was fairly good occasionally, sometimes erroneous without being wildly at fault, and most often completely wrong. The records of colour naming were made, not, of course, as a form of colour vision test, but simply to illustrate the ways in which such defectives make an effort to use colour names in general use among their friends and relatives.
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PMID:Colour vision tests and colour naming by thirteen incomplete achromats in Bishnupur. 31 98

Use of the Pigmentometer, a new device for measuring skin albedo: Relating skin color with a series of physiological measures. An apparatus has been described for the indirect measurement of skin albedo in human subjects. This device operates on the principle of the reflectance of light as influenced by the lightness or darkness of the skin. This new equipment was used to examine the relationship between lightness or darkness of the skin and the basal level and responsivity of some autonomic nervous system physiological variables in a series of 46 black and 47 white male and female subjects. It was observed that blacks had significantly lower (darker) skin albedo (PI), a significantly higher skin resistance (SR) and amplitude of the galvanic skin response (GSR), and an insignificant higher basal heart rate (HR). Pearson Product-Movement correlations between all measures from the total population showed significant relationships between PI and SR, SR and GSR and HR and HRR (heart rate response). The further separation of the total population into subgroups of blacks, whites, males, females, and black and white male and female goups, respectively, altered some of these differences and relationships previously observed. These results appeared to support the premise that race is more responsible for influencing the measured physiological responses, particularly SR, than is the lightness or darkness of the skin.
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PMID:Use of the pigmentometer, a new device for measuring skin albedo: relating skin color with a series of physiological measures. 85 32

Results are reported of a preliminary survey of colour vision changes in fifteen patients with central serous retinopathy. Colour vision was monitored with the HRR plates, 100-hue test and Nagel anomaloscope. In those patients revealing an acquired dyschromatopsia the defect had a tritan-like response. However, diagnosis is made difficult because of the positively correlated trend between 100-hue error score and visual acuity.
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PMID:Visual acuity and colour vision tests--a preliminary report. 105 22

The skeletal muscle ryanodine receptor of malignant hyperthermia-susceptible (MHS) pigs contains a mutation at residue 615 that is highly correlated with various abnormalities in the regulation of sarcoplasmic reticulum (SR) Ca2+ channel activity. In isolated SR membranes the Arg615 to Cys615 ryanodine receptor mutation is now shown to be directly responsible for an altered tryptic peptide map, due to the elimination of the Arg615 cleavage site. Furthermore, trypsin treatment released 86-99 kDa ryanodine receptor fragments encompassing residue 615 from the SR membranes. We conclude that the 86-99 kDa domain containing residue 615 is near the cytoplasmic surface of the ryanodine receptor and likely near important Ca2+ channel regulatory sites.
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PMID:Structural and functional correlates of a mutation in the malignant hyperthermia-susceptible pig ryanodine receptor. 133 12

The expression of major sarcoplasmic reticulum proteins during cardiac and fast-twitch skeletal muscle development was examined using gene-specific probes. Through the use of S1 nuclease mapping, Northern blot, and RNA slot-blot analysis, sarcoplasmic reticulum proteins were shown to exhibit both narrow tissue specificity and plasticity in their expression during muscle development. In fast-twitch skeletal muscle, the cardiac/slow-twitch isoforms of Ca(2+)-ATPase and calsequestrin were detected at high levels in fetal stages but were gradually replaced by fast-twitch isoforms in adult muscle. In contrast, cardiac muscle expressed exclusively cardiac/slow-twitch isoforms of Ca(2+)-ATPase and calsequestrin at all stages. Both fast-twitch and slow-twitch skeletal muscle expressed the same skeletal muscle ryanodine receptor isoform, whereas cardiac muscle expressed a cardiac isoform. Phospholamban expression was restricted to cardiac and slow-twitch skeletal muscle and did not appear in developing fast-twitch skeletal muscle. During in vitro myogenesis of C2C12 cells, the mRNA transcripts encoding sarcoplasmic reticulum proteins were found to be coordinately induced in synchrony with that of contractile protein mRNA. The myogenic factor "myogenin" induced sarcoplasmic reticulum gene transcripts along with contractile protein mRNAs in nonmyogenic cells. These data suggest that the induction of both sarcoplasmic reticulum and contractile protein gene families is under the control of a common myogenic differentiation program.
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PMID:Regulation of sarcoplasmic reticulum gene expression during cardiac and skeletal muscle development. 137 78

A region in the skeletal muscle ryanodine receptor between amino acids 4014 and 4765 was expressed as a trpE fusion protein. Overlay studies revealed that this region bound Ca2+ and ruthenium red, an indicator of Ca(2+)-binding sites. Ca2+ binding was mapped to subregion 13b between amino acids 4246 and 4377, encompassing a predicted high affinity Ca(2+)-binding site, and to subregion 13c between amino acids 4364 and 4529, encompassing two predicted high affinity Ca(2+)-binding sites. Ca2+ binding was then mapped to three shorter sequences, 22(13b1), 36(13c1), and 35(13c2), amino acids long, each encompassing one of the three predicted Ca(2+)-binding sites. Site-directed polyclonal antibodies were raised against these three short sequences and purified on antigen affinity columns. The antibody against sequence 13c2, lying between residues 4478 and 4512, specifically recognized both denatured and native forms of the ryanodine receptor, suggesting that at least part of the 35 amino acid sequence containing the Ca(2+)-binding site is surface-exposed. The affinity purified antibody increased the Ca2+ sensitivity of ryanodine receptor channels incorporated into planar lipid bilayers, resulting in increased open probability and opening time without altering channel conductance. The antibody-activated channel was still modulated by Ca2+, Mg2+, ATP, ryanodine, and ruthenium red. These observations suggest that sequence 13c2 may be involved in Ca(2+)-induced Ca2+ release.
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PMID:Characterization of a Ca2+ binding and regulatory site in the Ca2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum. 138 18

A locus for malignant hyperthermia susceptibility (MHS) has been localized on chromosome 19q12-13.2, while at the same time the gene encoding the skeletal muscle ryanodine receptor (RYR1) also has been mapped to this region and has been found to be tightly linked to MHS. RYR1 was consequently postulated as the candidate for the molecular defect causing MHS, and a point mutation in the gene has now been identified and is thought to be the cause of MH in at least some MHS patients. Here we report the results of a linkage study done with 19q12-13.2 markers, including the RYR1 cDNA, in two Bavarian families with MHS. In one of the families, three unambiguous recombination events between MHS and the RYR1 locus were found. In the second family only one informative meiosis was seen with RYR1. However, segregation analysis with markers for D19S75, D19S28, D19S47, CYP2A, BCL3, and APOC2 shows that the crossovers in the first family involve the entire haplotype defined by these markers flanking RYR1 and, furthermore, reveals multiple crossovers between these haplotypes and MHS in the second family. In these families, pairwise and multipoint lod scores below -2 exclude MHS from an interval spanning more than 26 cM and comprising the RYR1 and the previously described MHS locus. Our findings thus strongly suggest genetic heterogeneity of the MHS trait and prompt the search for another MHS locus.
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PMID:Evidence for genetic heterogeneity of malignant hyperthermia susceptibility. 159 99

As most Carcinoma of the Uterine Cervix (CUC) has been found at advanced stages, Radiotherapy (RT) is still the most important treatment. Unfortunately not all CUC are responsive to RT Histological Radiation Response of the CUC according to Saryadi and Osborne (1975) determines 3 grades: good--moderate--poor HRR respectively, which conforms with the Cancer cells response grading according to National Cancer Center Hospital in Japan. In 1982, B. Hadiyanto and Sutoto reported a highly significant difference in the 5 y.s.r. of CUC patients who had better RHH (N = 52). In 1989, Sutoto, Suprijono and W. Adijono also reported highly significant differences among such groups of patients, of whom part received High-dosage of Mitomycin C (N = 46). Lately, Ristiyati and Sutoto have also found that the 5 y.s.r. among 187 patients treated with Radiotherapy alone and R.R. + Mitomycin showed significantly better survival in patients with better HRR. These studies showed that HRR is one of the most important points in CUC Radiotherapy. It has potential use in improving the result of RT, such as: Switching further treatment to surgery; Administering more aggressive adjuvant chemotherapy, among the worst responders.
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PMID:Uterine cervix carcinoma. Histological radiation response (H.R.R.). 161 22


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