Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344329 (collapse)
 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study uses an anthropomorphic phantom and its computed tomography (CT) data set to evaluate monitor unit (MU) calculations using the CMS Focus Clarkson, the CMS Focus Multigrid Superposition Model, the CMS Focus FFT Convolution Model, and the ADAC Pinnacle Collapsed Cone Convolution Superposition Algorithms. Using heterogeneity corrections, a treatment plan and corresponding MU calculations were generated for several typical clinical situations. A diode detector, placed in an anthropomorphic phantom, was used to compare the treatment planning algorithms' predicted doses with measured data. Differences between diode measurements and the algorithms' calculations were within reasonable levels of acceptability as recommended by Van Dyk et al. [Int. J. Rad. Onc. Biol. Phys. 26, 261-273 (1993)], except for the CMS Clarkson algorithm, which predicted too few MU for delivery of the intended dose to chest wall fields.
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PMID:Comparison of commercially available three-dimensional treatment planning algorithms for monitor unit calculations in the presence of heterogeneities. 1167 36

Adjacent mitochondrial open reading frames orf355 and orf77 are associated with S cytoplasmic male sterility (CMS-S) in maize, but the mechanisms leading to collapse of developing CMS-S pollen are unknown. Sequence similarity between orf77 and the mitochondrial ATP synthase subunit 9 (atp9) locus led us to examine RNA editing in orf77 and atp9 transcripts of pre-collapse CMS-S microspores. Editing of atp9 was not influenced by the presence of orf77 transcripts. Sequence analysis of cDNA clones demonstrated that atp9 transcripts are fully edited in CMS-S microspores. Orf77 nucleotides corresponding to edited nucleotides in atp9 were either not edited or edited inefficiently within the context of orf77, perhaps due to limited conservation of flanking sequences between orf77 and atp9. However, eight of ten orf77 cDNA clones carried an unexpected terminating edit that truncated orf77 to predict a peptide of 17 amino acids (ORF17) sharing significant identity with the C-terminal transmembrane domain of the ATP9 protein.
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PMID:Mitochondrial RNA editing truncates a chimeric open reading frame associated with S male-sterility in maize. 1249 Oct 12

Mitochondrial biogenesis and function depend upon the interaction of mitochondrial and nuclear genomes. Forward genetic analysis of mitochondrial function presents a challenge in organisms that are obligated to respire. In the S-cytoplasmic male sterility (CMS-S) system of maize, expression of mitochondrial open reading frames (orf355-orf77) conditions collapse of developing haploid pollen. Nuclear restorer-of-fertility mutations that circumvent pollen collapse are often homozygous lethal. These spontaneous mutations potentially result from disruption of nuclear genes required for mitochondrial gene expression, in contrast to homozygous-viable restorer-of-fertility alleles that function to block or compensate for the expression of mitochondrial CMS genes. Consistent with this hypothesis, the homozygous-lethal restoring allele historically designated RfIII was shown to be recessive in diploid pollen produced by tetraploid CMS-S plants. Accordingly, the symbol for this allele has been changed to restorer-of-fertility lethal 1 (rfl1). In haploid rfl1 pollen, orf355-orf77 transcripts and mitochondrial transcripts encoding the alpha-subunit of the ATP synthase (ATPA) were decreased in abundance. Haploid rfl1 pollen failed to accumulate wild-type levels of ATPA protein, indicating that functional requirements for mitochondrial protein accumulation are relaxed in maize pollen. The CMS-S system and rfl mutations therefore allow for the selection of nuclear mutations disrupting mitochondrial biogenesis in a multicellular eukaryote.
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PMID:A nuclear restorer-of-fertility mutation disrupts accumulation of mitochondrial ATP synthase subunit alpha in developing pollen of S male-sterile maize. 1457 87

Many genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but important knowledge gaps exist in the roles of these genes in kidney cell biology and renal diseases. More animal models are needed to assess the functions of these genes in vivo, and to determine how they cause NS in a timely manner. Drosophila nephrocytes and human podocytes share striking similarities, but to what degree these known NS genes play conserved roles in nephrocytes remains unknown. Here we systematically studied 40 genes associated with NS, including 7 that have not previously been analysed for renal function in an animal model. We found that 85% of these genes are required for nephrocyte functions, suggesting that a majority of human genes known to be associated with NS play conserved roles in renal function from flies to humans. To investigate functional conservation in more detail, we focused on Cindr, the fly homolog of the human NS gene CD2AP. Silencing Cindr in nephrocytes led to dramatic nephrocyte functional impairment and shortened life span, as well as collapse of nephrocyte lacunar channels and effacement of nephrocyte slit diaphragms. These phenotypes could be rescued by expression of a wild-type human CD2AP gene, but not a mutant allele derived from a patient with CD2AP-associated NS. We conclude that the Drosophila nephrocyte can be used to elucidate clinically relevant molecular mechanisms underlying the pathogenesis of most monogenic forms of NS, and to efficiently generate personalized in vivo models of genetic renal diseases bearing patient-specific mutations.
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PMID:A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome. 2816 40

Mitochondria execute key pathways of central metabolism and serve as cellular sensing and signaling entities, functions that depend upon interactions between mitochondrial and nuclear genetic systems. This is exemplified in cytoplasmic male sterility type S (CMS-S) of Zea mays, where novel mitochondrial open reading frames are associated with a pollen collapse phenotype, but nuclear restorer-of-fertility (restorer) mutations rescue pollen function. To better understand these genetic interactions, we screened Activator-Dissociation (Ac-Ds), Enhancer/Suppressor-mutator (En/Spm), and Mutator (Mu) transposon-active CMS-S stocks to recover new restorer mutants. The frequency of restorer mutations increased in transposon-active stocks compared to transposon-inactive stocks, but most mutants recovered from Ac-Ds and En/Spm stocks were unstable, reverting upon backcrossing to CMS-S inbred lines. However, 10 independent restorer mutations recovered from CMS-S Mu transposon stocks were stable upon backcrossing. Many restorer mutations condition seed-lethal phenotypes that provide a convenient test for allelism. Eight such mutants recovered in this study included one pair of allelic mutations that were also allelic to the previously described rfl2-1 mutant. Targeted analysis of mitochondrial proteins by immunoblot identified two features that consistently distinguished restored CMS-S pollen from comparably staged, normal-cytoplasm, nonmutant pollen: increased abundance of nuclear-encoded alternative oxidase relative to mitochondria-encoded cytochrome oxidase and decreased abundance of mitochondria-encoded ATP synthase subunit 1 compared to nuclear-encoded ATP synthase subunit 2. CMS-S restorer mutants thus revealed a metabolic plasticity in maize pollen, and further study of these mutants will provide new insights into mitochondrial functions that are critical to pollen and seed development.
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PMID:Restorer-of-Fertility Mutations Recovered in Transposon-Active Lines of S Male-Sterile Maize. 2916 73