Search results for "Cod"
showing 10 items of 2985 documents
Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
1999
Hereditary papillary renal carcinoma (HPRC) is characterized by multiple, bilateral papillary renal carcinomas. Previously, we demonstrated missense mutations in the tyrosine kinase domain of the MET proto-oncogene in HPRC and a subset of sporadic papillary renal carcinomas. In this study, we screened a large panel of sporadic papillary renal carcinomas and various solid tumors for mutations in the MET proto-oncogene. Summarizing these and previous results, mutations of the MET proto-oncogene were detected in 17/129 sporadic papillary renal carcinomas but not in other solid tumors. We detected five novel missense mutations; three of five mutations were located in the ATP-binding region of t…
Regulation of ISWI chromatin remodelling activity.
2013
The packaging of the eukaryotic genome into chromatin facilitates the storage of the genetic information within the nucleus, but prevents the access to the underlying DNA sequences. Structural changes in chromatin are mediated by several mechanisms. Among them, ATP-dependent remodelling complexes belonging to ISWI family provides one of the best examples that eukaryotic cells evolved to finely regulate these changes. ISWI-containing complexes use the energy derived from ATP hydrolysis to rearrange nucleosomes on chromatin in order to favour specific nuclear reactions. The combination of regulatory nuclear factors associated with the ATPase subunit as well as its modulation by specific histo…
The 18S ribosomal RNA m 6 A methyltransferase Mettl5 is required for normal walking behavior in Drosophila
2020
RNA modifications have recently emerged as an important layer of gene regulation. N6-methyladenosine (m6A) is the most prominent modification on eukaryotic messenger RNA and has also been found on noncoding RNA, including ribosomal and small nuclear RNA. Recently, several m6A methyltransferases were identified, uncovering the specificity of m6A deposition by structurally distinct enzymes. In order to discover additional m6A enzymes, we performed an RNAi screen to deplete annotated orthologs of human methyltransferase-like proteins (METTLs) in Drosophila cells and identified CG9666, the ortholog of human METTL5. We show that CG9666 is required for specific deposition of m6A on 18S ribosomal …
NOseq: amplicon sequencing evaluation method for RNA m6A sites after chemical deamination
2020
Abstract Methods for the detection of m6A by RNA-Seq technologies are increasingly sought after. We here present NOseq, a method to detect m6A residues in defined amplicons by virtue of their resistance to chemical deamination, effected by nitrous acid. Partial deamination in NOseq affects all exocyclic amino groups present in nucleobases and thus also changes sequence information. The method uses a mapping algorithm specifically adapted to the sequence degeneration caused by deamination events. Thus, m6A sites with partial modification levels of ∼50% were detected in defined amplicons, and this threshold can be lowered to ∼10% by combination with m6A immunoprecipitation. NOseq faithfully d…
A morphometric study on sural nerves in metachromatic leucodystrophy.
1987
This study reexamines peripheral neuropathy in infantile, juvenile and adult metachromatic leuco-dystrophy. A computer-assisted method was used which gives more detailed information on abnormal fibre structure from scatter diagrams of the g ratio (axon diameter/fibre diameter). The data show marked and statistically significant reductions in sheath thickness, particularly for the thick myelinated fibres, and most severe in the juvenile and adult forms. This is interpreted as evidence of remodelling of virtually the entire fibre population, without a clear-cut selectivity for either thin or thick fibres.
Effect of lactose, lactulose and bisacodyl on gastrointestinal transit studied by metal detector.
2007
SUMMARY Aim and methods: To study the effect of 45 g lactose, 30 g lactulose and 10 mg bisacodyl on gastrointestinal transit in 30 healthy volunteers by metal detector and Hinton marker method. The first set of measurements were performed under standard conditions. In a second stage, transit was slowed to twice the original value by loperamide to simulate constipation conditions. Results: Bisacodyl drastically accelerated small and large intestinal transit. Colonic transit was shortened to 23 % and to 31% of control values, without and with loperamide. Bisacodyl increased stool weight and decreased stool consistency in all persons. Lactulose marginally shortened small intestinal transit (P=…
Differences in pharmacokinetics and pharmacodynamics of insulin lispro and aspart in healthy volunteers.
2003
Pharmacokinetic and pharmacodynamic profiles of the rapid-acting insulin analogues lispro and aspart were compared in a randomized, double-blind crossover study of 20 fasting healthy men following a single subcutaneous injection. Either insulin lispro or aspart, 0.05 U/kg-body-weight, was injected subcutaneously and followed by determination of 5-h profiles of plasma glucose, serum C-peptide and insulin concentrations. Lowest glucose concentrations were observed after 50 min in the aspart group (3.2 +/- 0.1 mmol/l versus lispro 3.5 +/- 0.1 mmol/l; p = 0.026) and after 60 min in the lispro group (3.4 +/- 0.1 mmol/l). For blood glucose t min was 59.3 +/- 3.4 min in the aspart and 63.5 +/- 5.3…
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-…
2021
Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia.Objective: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv).Design, Setting, and Participants: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020.Main…
ERP correlates of transposed-letter priming effects: The role of vowels versus consonants
2008
One key issue for any computational model of visual-word recognition is the choice of an input coding scheme for assigning letter position. Recent research has shown that pseudowords created by transposing two letters are very effective at activating the lexical representation of their base words (e.g., relovution activates REVOLUTION). We report a masked priming lexical decision experiment in which the pseudoword primes were created by transposing/replacing two consonants or two vowels while event-related potentials were recorded. The results showed a modulation of the amplitude at an early window (150-250 ms) and at the N400 component for vowels but not for consonant transpositions. In ad…
Associations Among Psychologically Controlling Parenting, Autonomy, Relatedness, and Problem Behaviors During Emerging Adulthood.
2017
ABSTRACTThe present study aimed to investigate the relations among perceived parental psychological control (PPC), autonomy and relatedness, and negative outcomes during emerging adulthood in two cultural contexts: Italy and the USA. More specifically, we explored the mechanisms through which dependency-oriented PPC (DPPC) and achievement-oriented PPC (APPC) are associated with both internalizing and externalizing difficulties, focusing on the mediating role of autonomy and relatedness. Participants were 418 European-American and 359 Italian college students. Results indicated that the expressions of PPC with regard to dependency and achievement were related to emerging adults’ negative out…