Mutations at splice sites or surrounding sequences have been reported to cause aberrant splicing. However, splicing errors can also occur without sequence alterations. We investigated three tumor suppressor genes for aberrant splicing in tumors. At a low frequency per exon it was found in five of seven of the investigated in-frame exons of the neurofibromatosis type 1 (NF1) gene, in two of thre...

Suspecting significance behind ordinary events is a common feature in psychosis and it is assumed to occur due to aberrant salience attribution. The Salience Attribution Test (SAT; Roiser et al., 2009) measures aberrant salience as a bias towards one out of two equally reinforced cue features as opposed to adaptive salience towards features indicating high reinforcement. This is the first study...

The mechanisms regulating cortisol production when ACTH of pituitary origin is suppressed in primary adrenal causes of Cushing's syndrome (CS) include diverse genetic and molecular mechanisms. These can lead either to constitutive activation of the cAMP system and steroidogenesis or to its regulation exerted by the aberrant adrenal expression of several hormone receptors, particularly G-protein...

MOTIVATION RNA-seq has been widely used to study the transcriptome. Comparing to microarray, sequencing-based RNA-seq is able to identify splicing variants and single nucleotide variants in one experiment simultaneously. This provides unique opportunity to detect variants that associated with aberrant splicing. Despite the popularity of RNA-seq, no bioinformatics tool has been developed to leve...

YOSHIKAWA, K. and WAKASA, H. Hypoglycemia Associated with Aberrant Insulinoma: A Case Report of 16 Years Follow-Up. Tohoku J. exp. Med., 1980, 132 (1), 17-29 A case of hypoglycemia resulting probably from aberrant islet cell tumor which appeared after removal of the spleen is reported. The case had been followed up for 16 years. During the clinical course, two times of operation of the pancreas...

Ureteropelvic junction obstruction is usually intrinsic and is most common in children. Aberrant renal arteries are present in about 30% of individuals. Aberrant renal arteries to the inferior pole cross anteriorly to the ureter and may cause hydronephrosis. To the best of our knowledge, although there are some papers about aberrant renal arteries producing ureteropelvic junction obstruction, t...

Aberrant crypts were identified for the first time in whole-mount preparations of normal-appearing human colonic mucosa after staining with methylene blue. The foci of aberrant crypts varied from single altered glands to plaques of greater than 30 crypts. The mean proportion of colonic mucosa altered and the number of foci with aberrant crypts per cm2 of colonic mucosa were (a) higher in patien...

Aberrant breast tissue is usually found in proximity to the normal breast, that is, in the axillary, sternal or clavicular regions. Carcinoma occurs more frequently in the aberrant tissue of the axilla than the extra-axillary site though the overall incidence of tumors of aberrant breast tissue is low. To our knowledge, studies regarding the carcinoma of aberrant breast tissue of the extra-axil...

The relationship of aberrant DNA hypermethylation of cell cycle checkpoint genes with the sensitivity of cancer cells to anticancer drugs is a question of current interest. In this study, we investigated the relationship between aberrant hypermethylation of the CHFR (checkpoint with forkhead-associated and ring finger) mitotic checkpoint gene and sensitivity to taxanes in endometrial cancer. Me...

OBJECTIVE To define the entity of tricuspid regurgitation caused by tethering of the tricuspid valve leaflets by aberrant tendinous chords. DESIGN Retrospective study. SETTING Tertiary care centre (university teaching hospital). PATIENTS 10 patients with unexplained severe tricuspid regurgitation. METHODS The last 13 500 echocardiographic studies from our facility were reviewed to ident...