Search results for " Variant"
showing 10 items of 231 documents
Oligodendroglioma cells synthesize the differentiation-specific linker histone H1˚ and release it into the extracellular environment through shed ves…
2013
Chromatin remodelling can be involved in some of the epigenetic modifications found in tumor cells. One of the mechanisms at the basis of chromatin dynamics is likely to be synthesis and incorporation of replacement histone variants, such as the H1° linker histone. Regulation of the expression of this protein can thus be critical in tumorigenesis. In developing brain, H1° expression is mainly regulated at the post-transcriptional level and RNA-binding proteins (RBPs) are involved. In the past, attention mainly focused on the whole brain or isolated neurons and little information is available on H1° expression in other brain cells. Even less is known relating to tumor glial cells. In this st…
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)
2018
IF 4.743 (2017); International audience; BackgroundRare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.ObjectiveThe purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.MethodsWe conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death. We also asse…
Development and validation of RP-HPLC method for the quantitative estimation of αs1-genetic variants in goat milk
2013
A high-performance liquid chromatographic (HPLC) method was developed and validated for separation and quantification of the most common genetic variants of as1-casein in goat’s milk, to evaluate the effect of as1-casein polymorphisms on casein content. Chromatography was carried out by binary gradient technique on a reversed-phase C8 Zorbax column and the detection was made at a wavelength of 214 nm. The procedure was developed using individual raw milk samples of Girgentana goats. For calibration experiments, pure genetic variants were extracted from individual milk samples of animals with known genotypes, considering that commercial standards for goat genetic variants were not available.…
Prenatal Diagnosis of Bovine Aortic Arch Anatomic Variant
2022
Fetal aortic arch development is an early and complex process that depends on many genetic and environmental factors. The final aortic arch varies greatly; it may take the form of a normal arch, anatomic variant (AAAV) with a common origin to that of the innominate artery and left common carotid artery (formerly known as “bovine aortic arch” (with an incidence of up to 27%)) or one of multiple pathological conditions. The present study aimed to establish the feasibility and impact of prenatal anatomic arch variants’ diagnosis. A retrospective study of 271 fetal second- and third-trimester anomaly scans was performed in our tertiary center. Examinations that evaluated the s…
Boolean Networks: A Primer
2021
Abstract Autism Spectrum Disorders (ASDs) stand out as a relevant example where omics-data approaches have been extensively and successfully employed. For instance, an outstanding outcome of the Autism Genome Project relies in the identification of biomarkers and the mapping of biological processes potentially implicated in ASDs’ pathogenesis. Several of these mapped processes are related to molecular and cellular events (e.g., synaptogenesis and synapse function, axon growth and guidance, etc.) that are required for the development of a correct neuronal connectivity. Interestingly, these data are consistent with results of brain imaging studies of some patients. Despite these remarkable pr…
Prevalence of anatomical variants and coronary anomalies in 543 consecutive patients studied with 64-slice CT coronary angiography
2008
The aim of our study was to assess the prevalence of variants and anomalies of the coronary artery tree in patients who underwent 64-slice computed tomography coronary angiography (CT-CA) for suspected or known coronary artery disease. A total of 543 patients (389 male, mean age 60.5 +/- 10.9) were reviewed for coronary artery variants and anomalies including post-processing tools. The majority of segments were identified according to the American Heart Association scheme. The coronary dominance pattern results were: right, 86.6%; left, 9.2%; balanced, 4.2%. The left main coronary artery had a mean length of 112 +/- 55 mm. The intermediate branch was present in the 21.9%. A variable number …
Anatomical variants and anomalies of the coronary tree studied with MDCT coronary angiography
2010
Le anomalie delle arterie coronariche sono presenti alla nascita nella maggior parte dei casi asintomatiche ma possono manifestarsi con sintomatologia severa quale angina pectoris o addirittura l’arresto cardiaco. L’angiografia coronarica mediante tomografia computerizzata multistrato (TCMS) permette, tramite ricostruzioni multiplanari secondo piani curvilinei e riformattazioni 3D, la visualizzazione dell’albero coronarico e delle sue varianti ed anomalie in maniera non invasiva, fornendo migliore e più accurata alternativa alla angiografia coronarica (AC). Lo scopo di questo pictorial consiste nella descrizione mediante immagini TCMS con ricostruzioni multiplanari e 3D delle principali var…
Gestācijas dominantes psiholoģiskās komponentes hipogestognostiskā varianta izplatība un saistība ar atioforiognoziju dzemdību palīdzības iestādes pa…
2015
Ievads. Gestācijas dominantes psiholoģiskā komponente ir psihisko pašregulācijas mehānismu kopums grūtniecības saglabāšanai. Hipogestognostiskais variants raksturīgs sievietēm, kuras apzināti vai biežāk neapzināti nepieņem savu grūtniecību. Sakarā ar to, ka gestācijas dominantes psiholoģiskās komponentes hipogestognostiskais variants ir cieši saistīts ar grūtniecības noliegšanu, kas apdraud gan mātes, gan bērna dzīvību, nepieciešams pēc iespējas agrīni novērtēt grūtnieces psiholoģisko stāvokli. Pētījuma mērķis. Veicot prospektīvo pētījumu novērtēt grūtnieču gestācijas dominantes psiholoģiskās komponentes hipogestognostiskā varianta biežumu, kā arī noskaidrot grūtniecības nelabvēlīga iznākum…
Linguistica Lettica, Nr. 30
2022
Žurnāla "Linguistica Lettica" 30. numura tēma ir "Valodas bagātība slēpjas tās dažādībā". The theme of the 30th issue of the annual journal "Linguistica Lettica" is "The richness of language lies in its diversity".