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

There are many advantages to the computerization of colour vision tests. However, previous computerized colour vision tests have involved equipment and methods not commonly used in clinical practice. We created computer emulations of the City University Colour Vision Test (CUT), Ishihara plates and American Optical Hardy-Rand-Rittler (AO-HRR) plates using a commonly available 24-bit colour Macintosh computer. Our colour monitor was calibrated to standard display white (D65), and colour plates were imaged with a colour scanner. The computerized colour images were compared with the standard test plates in a sample of 21 subjects with normal colour vision, 10 patients with congenital red-green defect and 1 patient with an acquired mixed colour defect. The computer images of the three tests correlated well with their conventional counterparts on kappa statistic analysis (p < 0.001), for both the colour normal and colour defective groups. We conclude that our computer emulations of the CUT, Ishihara and AO-HRR tests screen subjects with normal colour vision with high specificity and delineate congenital colour defects with a sensitivity comparable to that of their conventional counterparts.
 ...
PMID:Computerized colour vision testing. 792 51

A total of 392 pigs of European Landrace and Pietrain origin segregating for malignant hyperthermia (MH) were genotyped using a polymerase chain reaction (PCR)/restriction endonuclease test for the C-T mutation at nucleotide (nt) 1843 in the skeletal muscle ryanodine receptor (RYR1) gene, earlier identified as the causal mutation for MH. All pigs had been halothane tested and genotyped at linked polymorphic marker loci. There was complete correlation between MH status of the 392 animals, as diagnosed by a combination of the halothane challenge test with S, GPI, H, A1BG, PGD haplotyping, and the DNA-based test. DNA-based detection of the MH status in 238 MH-susceptible heterozygous (N/n) and homozygous (n/n) pigs was shown to be accurate, eliminating the 2% diagnostic error that is associated with the halothane challenge test. The mutation was also associated with an allele of a polymorphic microsatellite (ETH5 001) at the RYR1 locus.
 ...
PMID:Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds. 794 85

Analysis of the primary structure of the rabbit skeletal muscle ryanodine receptor led to the identification of two molecules of 5032 and 5037 residues, respectively. Such a sequence discrepancy is likely to be due to the alternative splicing of a 15 bp exon (1) encoding a 5 amino acid insertion (Ala-Gly-Asp-Ala-Gln) after residue 3479. By using PCR on first strand cDNA, we searched for the 15 base pair insertion in the ryanodine receptor mRNA from adult slow- and fast-twitch skeletal muscle, as well as from fast-muscles, at various stages of post-natal development. All rabbit skeletal muscle mRNAs, regardless of their developmental stage and twitch properties, contain two RYR transcripts, suggesting the coexistence of two RYR isoforms in mammalian skeletal muscle.
 ...
PMID:Identification of two ryanodine receptor transcripts in neonatal, slow-, and fast-twitch rabbit skeletal muscles. 794 21

Ryanodine receptors are key molecules in excitation-contraction coupling of skeletal muscle. They form the pore of the calcium release channel, which is regulated by Ca and ATP. Multiple proton titration sites are involved in controlling the different open states of the channel, as indicated by the following: i) the channel had a biphasic response to changes in proton concentrations around neutral pH; ii) the activities of the channel were inhibited by acidic pHs in a highly cooperative manner; and iii) the channel exhibited pronounced hysteresis to changes in pH. Four distinct conductance states can be identified in the single ryanodine-activated calcium release channel. The distribution of the multiple conductance states depends on the level of [Ca], ATP, and pH in the recording solution. The data are consistent with the multimeric structure of the skeletal muscle ryanodine receptor.
 ...
PMID:Highly cooperative and hysteretic response of the skeletal muscle ryanodine receptor to changes in proton concentrations. 794 77

Results from simple colour vision tests used for the detection of the Type III colour vision deficiency in glaucoma and ocular hypertension are presented. We assessed 49 patients with primary open angle glaucoma, 16 ocular hypertensives, 54 age matched normals and 50 young normal observers using six established tests and the recently introduced Tritan Album. This test was introduced specifically for acquired colour vision deficiencies. Results show in general that individual tests have low sensitivity and poor screening efficiency. The best screening efficiency was achieved by the City University Colour Vision Test and the AO HRR plate test, no acquired tritan defects were identified by the Farnsworth F2 plate, and the Tritan Album had very low sensitivity (the lowest excluding the F2 plate). Best results were obtained from a combination of City University and HRR test scores and this combination could provide useful additional data on colour vision in a glaucoma screening programme.
 ...
PMID:Colour vision screening in glaucoma: the Tritan Album and other simple tests. 797 Jul 37

A polypeptide of high molecular mass has been detected in mammalian brain by a monoclonal antibody, 5C3, raised against skeletal muscle ryanodine receptor. 5C3 does not crossreact with the cardiac ryanodine receptor, the isoform which is believed to be located in many regions of the brain. Endogenous proteases in brain formed a prominent immunogenic fragment of 116 kDa whereas five immunostaining polypeptides greater than 200 kDa were observed in skeletal muscle. Mild trypsin digestion of brain microsomes resulted in fragments of approximately 400 and approximately 280 kDa, of similar mass to two peptides formed from the skeletal muscle ryanodine receptor. However a peptide of 28 kDa, resistant to trypsin, was observed in muscle but not in brain. The brain polypeptide recognised by 5C3 is therefore not identical to the skeletal muscle ryanodine receptor.
 ...
PMID:Monoclonal antibody to skeletal muscle ryanodine receptor detects a polypeptide in rat brain: comparison of immunogenic fragments after limited proteolysis. 801 88

In the present study, we have identified calmodulin binding sequences in the skeletal muscle ryanodine receptor Ca2+ release channel. Ligand overlays on RYR fusion proteins indicate that the skeletal muscle RYR contains three calmodulin binding regions defined by residues 2937-3225, 3546-3655, and 4425-4621. The RYR fusion protein PC28 (residues 2937-3225) bound calmodulin in the presence of EGTA and Ca2+, while RYR fusion protein PC26 (residues 3546-3655) exhibited strong calmodulin binding at 10 microM Ca2+. The RYR fusion protein PC15 (residues 4425-4621) did not bind calmodulin in the presence of either EGTA or 10-50 microM Ca2+. In the presence of 100-500 microM Ca2+, the RYR fusion protein PC15 exhibited an affinity for calmodulin of approximately 50 nM. Peptides RYR1 PM2 (residues 3610-3629) and RYR1 PM3 (4534-4552) encompassing putative RYR-calmodulin binding sites were synthesized. The synthetic peptides interacted directly with dansylcalmodulin as demonstrated by their capacity to affect the fluorescence emission of dansylcalmodulin. Missense mutation analysis indicates that the Lys and Arg residues are essential for calmodulin binding to the synthetic peptide RYR1 PM3. The RYR calmodulin binding site defined by peptide PM3 lies in the myoplasmic loop 2, a few residues upstream of the putative transmembrane segment M5; the other two calmodulin binding sites are next to the putative transmembrane segments M' and M''. Thus, the effect of calmodulin on Ca2+ release might involve the regulation of the putative transmembrane segments M5, M', and M''.
 ...
PMID:Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor. 804 9

This study describes habitual physical activity (HPA) of Bolivian boys living at different altitudes and from different socioeconomic status. The boys were living at high altitude (HA) in La Paz (4000 m) and at low altitude (LA) in Santa Cruz (400 m). At both altitudes samples of 10- to 12-year-old boys were chosen from a relatively low socioeconomic status (LSES) and a relatively high socioeconomic status (HSES). At HA 19 boys from LSES and 10 boys from HSES were measured and at LA 14 boys from LSES and 13 boys from HSES. HPA was measured by 24-h heart rate (HR) monitoring. Also an interview was completed to recall the HPA. By comparing the registered HR data with the time they were asleep the mean HR during sleep was calculated (HRsleep). The maximal HR (HRmax) was measured from a maximal exercise test on a bicycle ergometer. Heart rate reserve (HRR = HRmax-HRsleep) was used to measure the mean level of physical activity of the subjects. The results show that HRsleep (= HRrest) in HA boys with 70 (+/- 6) beats/min was significantly lower (p < 0.05) than in LA boys with 77 (+/- 10) beats/min. HRmax was also significantly lower (p < 0.05) in HA boys (187 +/- 12 beats/min) compared to LA boys (195 +/- 8 beats/min). Because HA influences HRsleep and HRmax in the same way, HRR is not significantly different between boys of HA and LA. The mean heart rate over 24 h (HRmean) in HA boys (87 +/- 7 beats/min) was significantly lower than in LA boys (93 +/- 8 beats/min).(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Habitual physical activity in 10- to 12-year-old Bolivian boys. The relation between altitude and socioeconomic status. 805 61

The expression of the dihydropyridine (DHP) and ryanodine receptors in skeletal muscle was investigated during development of rat myotubes in culture as well as during embryonic and postnatal development in the rat. Through the use of specific gene probes, antibodies and radioligand binding ([3H]PN 200-110 (DHP) and [3H]ryanodine), we identified a significant difference between the time course of appearance of the DHP receptor and the ryanodine receptor during muscle development. Although the number of DHP receptors dramatically increased at early stages of development (up to day 7 in tissue culture and day 20 postnatal), increase in the ryanodine receptor density occurred comparatively later at day 10 in culture and day 30 postnatal. This process was associated with parallel changes in the expression of the mRNA encoding the alpha 1, alpha 2, and beta subunits of the DHP receptor and the skeletal muscle ryanodine receptor. The genes encoding the DHP receptor subunits were activated in a temporally distinct transcript appeared and plateaued first, at the onset of myoblast fusion and day 16 embryonic. This was followed closely by an increase in expression of the mRNAs for alpha 1 and alpha 2 subunits which coincided with the sharp rise in the DHP receptor density. Ryanodine receptor gene expression was induced well after the DHP receptor gene expression had plateaued. The temporal appearance of the polypeptides comprising the DHP receptor subunits and the ryanodine receptor paralleled the induction of the genes encoding these receptors. These results imply that gene expression is a major mechanism that contributes to the regulation of DHP and ryanodine receptor numbers during muscle development. The temporal differences in the induction of the genes encoding the DHP receptor subunits and the ryanodine receptor suggests that these genes are under the control of distinct endogenous factors. These differences in expression of the DHP receptor and the ryanodine receptor may contribute to the different mechanisms of excitation-contraction coupling in immature versus adult skeletal muscle.
 ...
PMID:Temporal differences in the induction of dihydropyridine receptor subunits and ryanodine receptors during skeletal muscle development. 806 21

We have shown previously that the skeletal muscle ryanodine receptor mRNA of approximately 16,000 nucleotides codes 5,037 amino acid residues constituting the calcium release channel in skeletal muscle. In this study, RNA blot hybridization analysis shows that the brain contains an RNA species with an estimated size of approximately 2,400 nucleotides hybridizable with the 3'-terminal region of the skeletal muscle ryanodine receptor cDNA. cDNA cloning and genome analysis indicated that two transcripts differing in their start sites are produced from the skeletal muscle ryanodine receptor gene in a tissue-specific fashion, and that the mRNA in brain may code the carboxyl-terminal region of the ryanodine receptor molecule. cDNA expression experiments suggested that the ATG triplet encoding Met4382 of the skeletal muscle ryanodine receptor can function as a translation initiation codon, and that the expressed protein composed of the carboxy terminal 656 amino acid residues of the receptor is located on the endoplasmic reticulum membrane.
 ...
PMID:A brain-specific transcript from the 3'-terminal region of the skeletal muscle ryanodine receptor gene. 809 30


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>