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Query: UNIPROT:P06889 (Mol)
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A mechanistic definition of the dystrophic process is proposed, and the effects of growth factors vs. down-regulation of growth are critically analyzed. A conceptual scheme is presented to illustrate the steps leading to pathology, and various compensatory systems which ameliorate the pathology are examined, particularly in regards to the mdv mouse which is resistant to the deficiency of dystrophin, the main protein product of the Duchenne and Becker muscular dystrophy (DMD/BMD) gene. These compensatory systems are analyzed in terms of the differential resistance of fiber types to pathogenesis. The generation of a stable population of maturationally arrested centronucleated fibers which express the mature adult myosin isoforms is proposed to be the main strategy of mdx muscle to minimize apoptosis. Physiological properties of these fibers, such as utrophin expression, and high mitochondrial and endoplasmic reticulum content, together with probable increased glycerophosphorylcholine concentrations and facile access to the vascular system, are hypothesized to be instrumental in their resistance to pathogenesis. It is proposed that the major element that determines the susceptibility of most human muscles to the dystrophic process is their inability to arrest the maturation of regenerated fibers at the centronucleated stage with a concomitant expression of the adult myosins.
Mol Cell Biochem 1999 May
PMID:Mechanisms of resistance to pathogenesis in muscular dystrophies. 1039 79

Age-related macular degeneration (AMD) is increasingly recognized as a complex genetic disorder in which one or more genes contribute to an individual's susceptibility for developing the condition. Twin and family studies as well as population-based genetic epidemiologic methods have convincingly demonstrated the importance of genetics in AMD, though the extent of heritability, the number of genes involved, and the phenotypic and genetic heterogeneity of the condition remain unresolved. The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. Alzheimer's disease, another late onset, heterogeneous degenerative disorder of the central nervous system, offers a valuable model for identifying the issues that confront AMD genetics.
Mol Vis 1999 Nov 03
PMID:The genetics of age-related macular degeneration. 1056 53

Age-related macular degeneration (AMD) is increasingly recognized as a complex genetic disorder in which one or more genes contribute to an individual's susceptibility for developing the condition. Twin and family studies as well as population-based genetic epidemiologic methods have convincingly demonstrated the importance of genetics in AMD, though the extent of heritability, the number of genes involved, and the phenotypic and genetic heterogeneity of the condition remain unresolved. The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. Alzheimer's disease, another late onset, heterogeneous degenerative disorder of the central nervous system, offers a valuable model for identifying the issues that confront AMD genetics.
Mol Vis 1999 Nov 03
PMID:What can we learn about age-related macular degeneration from other retinal diseases? 1056 54

Infrared (4000-100 cm(-1)) and Raman (4000-10 cm(-1)) spectra of benzophenone, benzophenone-d10 and benzophenone-(18)O have been studied in the solid state and in solution and their fundamental frequencies have been assigned using isotopic frequency shifts and differential infrared linear dichroic spectra of oriented polycrystalline layers (4000-400 cm(-1)). Ab initio MO calculations have been carried out for the three benzophenone isotopomers at the HF/3-21G, 6-31G and 6-31G** levels and the computed vibrational frequencies have been compared with the experimental ones. Best agreement is achieved with the 6-31G data, the mean deviation being 25.4 cm(-1). The calculated isotopic frequency shifts induced by the (18)O and d10 labelling, are also in a good accordance with the measured ones. All geometry parameters calculated for the isolated molecule are in good agreement with the X-ray data for the benzophenone single crystal.
Spectrochim Acta A Mol Biomol Spectrosc 2000 Jan
PMID:Vibrational spectra and structure of benzophenone and its (18)O and d10 labelled derivatives: an ab initio and experimental study. 1072 61

The 1H, 13C, 31P, and 195Pt NMR spectra of [Pt0(PPh3)2(eta-ABC(1) = C(2)XY)] compounds (ABC(1)= C(2)XY (1) A = B = X = Y = H; (3) A = B = X = H, Y = CN; (4) A = H, B = p-NO2-Ph, X = COOCH3, Y = CN; (5) A = H, B = Ph, X = COOCH3, Y = CN; (6) A = H, B = Ph, X = Y = CN; (7) A = H, B = OEt, X = Y = CN), where X and Y are electronacceptor substituents, and the 1H spectrum of [Pt0(PPh3)2(eta2-C60)] (2) are reported together with extended analyses and assignments, based also on the ring current effect of the olefin phenyl in (4-6). Deviations from first order in the 13C spectra allowed the determination of the relative signs of the coupling constants J(P(1), C) and J(P(2), C) of the alkene and of the triphenylphosphine carbons. Best fit simulation of the phosphine C ipso spectrum provided also the 13C isotopic shift on phosphorus for (1). These compounds are characterised by strong differences between the two platinum-phosphorus coupling constants in the case of asymmetric olefins (3-7). The chemical shifts of alkene C(1) and C(2) indicate notable polarisation of the olefin after complexation, while the 1J(Pt, C(1)) and 1J(Pt, C(2)) values are in agreement with a stronger interaction of Pt with C(1) than with C(2). These findings together with the trend of 195Pt chemical shifts confirm the important role played by back-donation in the bonding of platinum(0)-olefin compounds.
Spectrochim Acta A Mol Biomol Spectrosc 2000 Oct
PMID:A multinuclear NMR study of [Pt0(PPh3)2(alkene)] compounds containing asymmetric olefins. 1105 62

Many species of the paleotropical pioneer tree genus Macaranga Thou. (Euphorbiaceae) live in association with ants. Various types of mutualistic interactions exist, ranging from the attraction of unspecific ant visitors to obligate myrmecophytism. In the latter, nesting space and food bodies are exchanged for protection by highly specific ant partners (mainly species of the myrmicine genus Crematogaster). As a first step toward elucidating the coevolution of ant-plant interactions in the Macaranga-Crematogaster system, we have initiated a molecular investigation of the plant partners' phylogeny. Nuclear ribosomal DNA internal transcribed spacer (ITS) sequences were analyzed for 73 accessions from 47 Macaranga species, representing 17 sections or informally described species groups. Three accessions from the putative sister taxon Mallotus Lour, were included as outgroups. Cladograms of the ITS data revealed Macaranga to be nested within Mallotus. ITS sequences are highly similar within section Pachystemon s.str., suggesting a relatively recent and rapid radiation of obligate myrmecophytes within this section. Forty-three accessions, mainly of ant-inhabited species, were additionally investigated by random amplified polymorphic DNA (RAPD) and microsatellite-primed PCR (MP-PCR) techniques. Phenetic analysis of RAPD and MP-PCR banding profiles generally confirmed the ITS results. Best resolutions for individual clades were obtained when ITS and RAPD/MP-PCR data were combined into a single matrix and analyzed phenetically. The combined analysis suggests multiple (four) rather than a single evolutionary origin of myrmecophytism, at least one reversal from obligate myrmecophytism to nonmyrmecophytism, and one loss of mutualistic specifity.
Mol Phylogenet Evol 2001 Jun
PMID:Molecular analysis of phylogenetic relationships among Myrmecophytic macaranga species (Euphorbiaceae). 1139 44

A mitogen-activated protein kinase kinase (MAPKK) gene, tMEK2, was isolated from tomato cv. Bonny Best. By mutagenesis, a permanently active variant, tMEK2MUT, was created. Both wild-type tMEK2 and mutant tMEK2MUT were driven by a newly described strong plant constitutive promoter, tCUP, in a tomato protoplast transient gene expression system. Pathogenesis-related genes, PRlb1, PR3 and Twi1, and a wound-inducible gene, ER5, were activated by tMEK2MUT. Specific inhibitors of p38 class MAPK inhibited tMEK2MUT-induced activation of PR3 and ER5 genes but not that of the PRlb1 or Twi1 gene. Arabidopsis dual-specificity protein tyrosine phosphatase 1 (DsPTP1) and maize protein phosphatase 1 (PP1) inhibited tMEK2MUT-induced activation of the ER5 gene and the Twi1 gene, respectively, whereas PRlb1 and PR3 were not affected by either AtDsPTP1, or maize PP1, or Arabidopsis protein phosphatase 2A (PP2A). We have demonstrated for the first time that a single MAPKK activates an array of PR and wound-related genes. Our observation indicates that the activation of the genes downstream of tMEK2 occurs through divergent pathways and that tMEK2 may play an important role in the interaction of signal transduction pathways that mediate responses to both biotic (e.g. disease) and abiotic stresses (e.g. wound responsiveness).
Plant Mol Biol 2001 May
PMID:Activation of tomato PR and wound-related genes by a mutagenized tomato MAP kinase kinase through divergent pathways. 1143 46

The most potent antigen among HSV-1 proteins are glycoproteins gB(UL27) and gD(US6). Multiple amino acid sequence alignment of these proteins shows that gD protein is the most specific for HSV-1. Analysis of gD protein epitopes detected the main antigenic determinants not cross-reactive with antigens of other viruses. Virus was isolated and genome DNA was prepared from morphological elements of a patient with herpes simplex infection. US6 gene fragment was cloned in pUC19 vector. Cloning in bacterial expression vectors helped obtain beta-galactosidase-fused recombinant HSV-1 gD protein with 6-histidines affine target for high-performance chromatography purification. ELISA with a set of HSV-1-positive and negative donor sera and a commercial panel of HSV-1 sera (Vektor-Best) showed that recombinant gD can be used as an antigen to HSV-1-specific IgG.
Mol Gen Mikrobiol Virusol 2001
PMID:[Development and preparation of recombinant gD antigen of the herpes simplex type 1 (HSV-1) virus]. 1144

Bone mass and its mineral content has been shown to be under genetic control. Our purpose in this study was to assess whether estrogen receptor genotypes influence changes in bone mass in post menopausal Japanese women and clarify the regional differences in Japanese women. Pvu II and Xba I restriction enzyme fragment length polymorphism of the estrogen receptor gene and its relationship with vertebral bone mineral density were examined in 300 unrelated post menopausal women, aged 42-69 years, from the Kinki region in Japan. Vertebral bone mineral density was evaluated at the lumbar spine (L2-4) by dual energy X-ray absorptiometry. We found no relationship between any single restriction site polymorphism and the Z-score of bone mineral density. However, the allelic haplotype PPXx was found to be associated with a significantly low bone mineral density (Z-score for the lumbar spine -1.118+/-1.270 vs. PPxx 0.04+/-1.150; p<0.01, vs. ppxx 0.387+/-1.226; p<0.05, respectively). We suggest that ER gene polymorphism is associated with low bone mineral density and that this partly explains the cause of post menopausal bone loss in Japanese women. The contradictory conclusions compared with previous studies in the Japanese population regarding the association of BMD with ER RFLPs demands further investigation.
Res Commun Mol Pathol Pharmacol 2001 Jul
PMID:The association between postmenopausal vertebral bone mineral density and estrogen receptor gene alleles in ethnic Japanese living in western Japan. 1145 81

The sequencing phase of the human genome project will soon be over. In its wake, repertoires of sequence polymorphisms among the human population are being sampled and a battery of functional genomics projects, from gene and protein expression studies to whole proteome interaction experiments, are generating vast quantities of data. Now that the data, or the means to generate data, are available it is the application of this information in enhancing our understanding of biology that represents the next formidable challenge. Two prominent issues should be considered. First, existing data must be analysed using the best methods available. The prediction of enzymatic activity for bestrophin, whose gene is mutated in Best macular dystrophy, is described in this review. This is an example of the experimentally testable hypotheses that can result from such detailed and exhaustive analyses. Secondly, the torrents of data from high-throughput studies will need to be made more accessible to all using web-based resources that integrate and digest complementary data types. The internet sites that showcase the human genome sequence are blazing a new trail. Ultimately, the success of genome sequencing and functional genomics will be measured not by the quantity and accuracy of raw data generated, but how rapidly they can be harnessed to span the divide between genotype and phenotype.
Hum Mol Genet 2001 Oct 01
PMID:Sequence variation and disease in the wake of the draft human genome. 1167 3


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