Background and objective Cerebral autosomal dominant arteriopathy with subcortical infarcts leukoencephalopathy (CADASIL) is an inherited cerebral microvascular disease characterized by the development of vascular dementia lacunar infarctions. This study aimed to identify genetic clinical features CADASIL in Japan. Methods We conducted analysis on a case series patients clinically diagnosed CAD...

Conflicting data from epidemiological trials, genetic family studies, transgenic animal models, and in vitro experiments have created controversy regarding the importance of HDL and apolipoprotein (apo) A-I for reverse cholesterol transport and protection from atherosclerosis. In this study we identified a homozygous nonsense mutation in codon 32 (Q32X) of the apoA-I gene as the molecular basis...

The relationship between subunit molecular weight and heterozygosity was studied in six different groups of organisms, i.e., 9 species of primates, 32 species of rodents, 56 species of reptiles, 12 species of salamanders, 64 species of teleost fishes, and 29 species of Drosophila. The correlation coefficient between them was positive in all groups, and the magnitude of correlation was roughly i...

© 2018 Elsevier Masson rrent limb and facial ema with R92Q mutation: n-febrile late-onset tumour osis factor receptorheterozygous mutation, disclosing probable non-febrile lateonset TRAPS. TRAPS usually begins during the first two decades [1]. Some cases of late-onset TRAPS have been described, with a median age of 32 years [2]. However, only few patients with an onset after 45 years have been ...

A large majority of ALK rearranged lung cancer patients show significant clinical response to various generations tyrosine kinase inhibitors (TKI). Despite long lasting remissions resistance eventually develops these therapies. Most mechanisms are targeted including mutations in domain and gene amplifications others off target involving other pathways. These may cause conformational changes tha...

CALR mutations, together with JAK-2 and MPL ones, are recognized as “driver” mutations in Philadelphia-negative chronic myeloproliferative neoplasms (MPNs). Most frequent Type-1 deletions (45-55% of cases) type-2 insertion (32-42% cases). These usually associated younger age, higher platelet counts, lower leukocyte hemoglobin levels a incidence transformation from ET to MF. Recognizing describi...

....................................................................................................................................1 1. Computational studies of protein folding and aggregation ..........................................3 1.1 Overview ....................................................................................................................3 1.2 Protein structure..........

Herein, we report a case of multiple sclerosis in which peripheral and central hearing, were evaluated through early (brainstem), middle and late auditory evoked potentials before and after corticosteroid therapy. Auditory evaluation revealed better performance on all post-treatment tests. In this case, central auditory function tests (behavioral and electrophysiological) identified the locatio...