The evolution of dispersal is a classical question in evolutionary biology, and it has been studied wide range mathematical models. A selection-mutation model, which the population structured by space phenotypic trait, with trait acting directly on (diffusion) rate, was formulated Perthame Souganidis [Math. Model. Nat. Phenom. 11:154–166, 2016] to study random toward evolutionarily stable strat...

Results 14/19 patients were homozygous or compound heterozygous for rare or novel missense mutations in the coding region of CECR1. In 5 patients, we have detected only one likely disease-associated mutation; further analysis is necessary to identify a possible genomic deletion or a second mutation in the non-coding region of CECR1. We have found three rare missense mutations that were not prev...

Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.

In this paper we propose a method to estimate by maximum likelihood the divergence time between two populations, specifically designed for the analysis of nonrecurrent rare mutations. Given the rapidly growing amount of data, rare disease mutations affecting humans seem the most suitable candidates for this method. The estimator RD, and its conditional version RDc, were derived, assuming that t...

In this study, we report here a rare case of polycythemia and cRCC in the same patient, which may be helpful in understanding clinical features and molecular mechanisms underlying VHL-mutation-associated cRCC and polycythemia induced by germline mutation of HIF2A. Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Trp) in the ...

Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case dilated cardiomyopathy (DCM) in an 18-year-old female with heterozygous mutation involving both DES TXNRD-2 genes.

Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...

The most common BRAF mutation in thyroid cancer is c.1799T>A (p.Val600Glu), and other BRAF mutations are rarely reported. We investigated the clinicopathological features of thyroid cancer with rare BRAF mutations. A total of 2,763 patients with thyroid cancer underwent molecular testing by direct DNA sequencing for mutations in BRAF exon 15. Among them, 2,110 (76.4%) had BRAF mutations. The c....

Introduction Bardet-Biedl syndrome (BBS) is a rare genetic caused by mutation in one of 26 different genes responsible for normal structure and/or function primary cilia. The characterized multiorgan involvement with gradual onset occurrence clinical signs and symptoms resulting great phenotypic variability what more important, often difficulties establishing the timely diagnosis. Case report W...