Association study of the common polymorphisms in the folate-methionine pathway with retinoblastoma

2016 ◽  
Vol 37 (4) ◽  
pp. 384-387 ◽  
Author(s):  
Elaheh Soleimani ◽  
Kioomars Saliminejad ◽  
Mohammad Taghi Akbari ◽  
Koorosh Kamali ◽  
Ali Ahani
2021 ◽  
Author(s):  
Tabea Schoeler ◽  
Jessie Baldwin ◽  
Andrea Allegrini ◽  
Wikus Barkhuizen ◽  
Andrew McQuillin ◽  
...  

Addiction to nicotine, alcohol and cannabis commonly co-occurs, which is thought to partly stem from a common heritable liability. To elucidate its genetic architecture, we modelled the common liability to addiction, inferred from genetic correlations among six measures of dependence and frequency of use of nicotine, alcohol and cannabis. Forty-two genetic variants were identified in the multivariate genome-wide association study on the common liability to addiction, of which 67% were novel and not associated with the six phenotypes. Mapped genes highlighted the role of dopamine (e.g., dopamine D2 gene), and showed enrichment for a several components of the central nervous systems (e.g., mesocorticolimbic brain regions) and molecular pathways (dopaminergic, glutamatergic, GABAergic) that are thought to modulate drug reinforcement. Genetic correlations with other traits were most prominent for reward-related behaviours (e.g., risk-taking, cocaine and heroin use) and mood (e.g., depression, insomnia). These genome-wide results triangulate and expand previous preclinical and human studies focusing on the neurobiological substrates of addiction, and help to elucidate the common genetic architecture underlying addiction.


2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
Rosa Calvello ◽  
Antonia Cianciulli ◽  
Maria Antonietta Panaro

Conservation/mutation in the intronic initial and terminal hexanucleotides was studied in 26 orthologous cytokine receptor genes of Mouse and Human. Introns began and ended with the canonical dinucleotides GT and AG, respectively. Identical configurations were found in 57% of the 5′ hexanucleotides and 28% of the 3′ hexanucleotides. The actual conservation percentages of the individual variable nucleotides at each position in the hexanucleotides were determined, and the theoretical rates of conservation of groups of three nucleotides were calculated under the hypothesis of a mutual evolutionary independence of the neighboring nucleotides (random association). Analysis of the actual conservation of groups of variable nucleotides showed that, at 5′, GTGAGx was significantly more expressed and GTAAGx was significantly less expressed, as compared to the random association. At 3′, TTTxAG and xTGCAG were overexpressed as compared to a random association. Study of Mouse and Human transcript variants involving the splice sites showed that most variants were not inherited from the common ancestor but emerged during the process of speciation. In some variants the silencing of a terminal hexanucleotide determined skipping of the downstream exon; in other variants the constitutive splicing hexanucleotide was replaced by another potential, in-frame, splicing hexanucleotide, leading to alterations of exon lengths.


1978 ◽  
Vol 48 ◽  
pp. 389-390 ◽  
Author(s):  
Chr. de Vegt

AbstractReduction techniques as applied to astrometric data material tend to split up traditionally into at least two different classes according to the observational technique used, namely transit circle observations and photographic observations. Although it is not realized fully in practice at present, the application of a blockadjustment technique for all kind of catalogue reductions is suggested. The term blockadjustment shall denote in this context the common adjustment of the principal unknowns which are the positions, proper motions and certain reduction parameters modelling the systematic properties of the observational process. Especially for old epoch catalogue data we frequently meet the situation that no independent detailed information on the telescope properties and other instrumental parameters, describing for example the measuring process, is available from special calibration observations or measurements; therefore the adjustment process should be highly self-calibrating, that means: all necessary information has to be extracted from the catalogue data themselves. Successful applications of this concept have been made already in the field of aerial photogrammetry.


Author(s):  
Ben O. Spurlock ◽  
Milton J. Cormier

The phenomenon of bioluminescence has fascinated layman and scientist alike for many centuries. During the eighteenth and nineteenth centuries a number of observations were reported on the physiology of bioluminescence in Renilla, the common sea pansy. More recently biochemists have directed their attention to the molecular basis of luminosity in this colonial form. These studies have centered primarily on defining the chemical basis for bioluminescence and its control. It is now established that bioluminescence in Renilla arises due to the luciferase-catalyzed oxidation of luciferin. This results in the creation of a product (oxyluciferin) in an electronic excited state. The transition of oxyluciferin from its excited state to the ground state leads to light emission.


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