Search results for "TOPS"

BIS-INDOLYL-5-MEMBER HETEROCYCLES ANALOGUES OF MARINE ALKALOID NORTOPSENTIN: SYNTHESES AND ANTINEOPLASTIC ACTIVITY

2008

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

A comparison among different techniques for human ERG signals processing and classification

2014

A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

2002

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

Unique astrocyte ribbon in adult human brain contains neural stem cells but lacks chain migration

2003

The subventricular zone (SVZ) is a principal source of adult neural stem cells in the rodent brain, generating thousands of olfactory bulb neurons every day. If the adult human brain contains a comparable germinal region, this could have considerable implications for future neuroregenerative therapy. Stem cells have been isolated from the human brain, but the identity, organization and function of adult neural stem cells in the human SVZ are unknown. Here we describe a ribbon of SVZ astrocytes lining the lateral ventricles of the adult human brain that proliferate in vivo and behave as multipotent progenitor cells in vitro. This astrocytic ribbon has not been observed in other vertebrates s…

Unexpected death for Takayasu aortitis associated with coronary ostial stenosis: case report.

2015

The differential diagnosis of vasculitis is often a difficult task due to the frequent morphological similarities that various vasculitic syndromes express when the heart is the target organ. The more the lesions are limited to the arterial tree with absent or almost silent coronary events, the less specific the anatomical and clinical frameworks. To create a series of clinical records and on the basis of these assumptions, the authors report a case concerning the sudden death of a 43-year-old woman which occurred while an ergonometric test was being carried out 28 days after the onset of the symptoms. A subsequent postmortem investigation/autopsy enabled us to detect a granulomatous aortit…

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

2019

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…

Manifestation and ultrastructural typing of amyloid deposits in the heart

1983

Using light and electron microscopy, 65 cases of amyloid deposits in the heart were examined. Five different groups were distinguished: I. isolated atrial amyloidosis, II. senile cardiac amyloidosis, III. cardiac amyloid accompanying chronic infections and tumors, IV. cardiac amyloid accompanying plasma cell dyscrasia, V. idiopathic cardiac amyloidosis. Seen structurally, no principal differences in the precise localization of the amyloid deposits were found in any of the groups investigated. Amyloid is always deposited in the vicinity of cells with myocytic cell differentiation (i.e. the heart muscle cells, non-striated muscle cells of the vessels), whereby the relevant basement membranes …

Where is the beat in that note? Effects of attack, duration, and frequency on the perceived timing of musical and quasi-musical sounds

2019

The perceptual center (P-center) of a sound is typically understood as the specific moment at which it is perceived to occur. Using matched sets of real and artificial musical sounds as stimuli, we probed the influence of attack (rise time), duration, and frequency (center frequency) on perceived P-center location and P-center variability. Two different methods to determine the P-centers were used: Clicks aligned in-phase with the target sounds via the method of adjustment, and tapping in synchrony with the target sounds. Attack and duration were the primary cues for P-center location and P-center variability; P-center variability was found to be a useful measure of P-center shape. Consiste…

Psoriasis arthropathica und Amyloidose

1972

Von insgesamt 5 Psoriasis arthropathica-Kranken wurden 4 rectumbioptisch, einer autoptisch auf das Vorliegen einer Amyloidose hin untersucht. Bei einem Patienten konnte ein positiver Amyloidnachweis gefuhrt werden. Es handelte sich dabei wie bei allen in der Literatur aufgefuhrten Fallen um die sekundare bzw. periretikulare Form der Amyloidablagerung. Anhand des vorliegenden Schrifttums wird die Haufigkeit einer Amyloidose bei Psoriatikern diskutiert, es werden Unterschiede zur Amyloidose bei primar chronischen Polyarthritis-Kranken aufgezeigt sowie Moglichkeiten der Amyloidgenese bei Psoriasis erortert.