Search results for " Mutation"

Codon 12 and codon 13 mutations in K-RAS differentially affect therapies response of colorectal carcinoma cells

2014

Analysis of Ki-Ras mutations in stage I rectal carcinomas and respective regional lymph nodes.

2007

In this work we show that the percentage of Ki-RAS mutations in codons 12 and 13 in rectal cancer are sensibly lower than in colon cancer, providing further evidence that these two kinds of tumors should be considered two different entities. Moreover, we show that the detection in regional lymph nodes of the same mutation of primary tumor might represent an indicator of lymph nodes metastasis in rectal carcinoma not detected in routine histologic examination.

Plasma cell-free DNA in diagnostic KRAS mutation testing

2015

Epidermaalisen kasvutekijän reseptorin (EGFR) monoklonaalisia vasta-aineita (mAb) käytetään apuna metastaattisen kolorektaalisyövän (mCRC) hoidossa. Aktivoivat mutaatiot KRAS- ja NRAS-onkogeeneissä tekevät syöpäsolut vastustuskykyisiksi anti-EGFR-vasta-aineille, ja tästä syystä tuumorit tulee genotyypittää ennen hoidon aloittamista. Kudosbiopsian ottaminen on kuitenkin invasiivinen toimenpide, eikä näyte välttämättä edusta kattavasti syövän kaikkien solupopulaatioiden geneettisiä muutoksia. Verenkierron solunulkoisen DNA:n (cfDNA) on havaittu sisältävän maligneista soluista lähtöisin olevia onkogeenisiä mutaatioita, ja se voi olla hyvä vaihtoehtoinen tuumoriperäisen DNA:n lähde. Kehitimme j…

Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene

2015

International audience; Here we describe a spontaneous mutation in the Zdhhc13 (zinc finger, DHHC domain containing 13) gene (also called Hip14l), one of 24 genes encoding palmitoyl acyltransferase (PAT) enzymes in the mouse. This mutation (Zdhhc13luc) was identified as a nonsense base substitution, which results in a premature stop codon that generates a truncated form of the ZDHHC13 protein, representing a potential loss-of-function allele. Homozygous Zdhhc13luc/Zdhhc13luc mice developed generalized hypotrichosis, associated with abnormal hair cycle, epidermal and sebaceous gland hyperplasia, hyperkeratosis, and increased epidermal thickness. Increased keratinocyte proliferation and accel…

On modeling the immune competition with Darwinian dynamics

Mathematical and computational models are increasingly used in this century to help modeling of living systems. Mathematical modeling presents many methods for studying and analyzing the behavior of biological systems, in particular, cellular systems. As Bellomo (2008), Bellouquid and Delitala (2006), suggest " The modeling of living systems is not an easy task, it requests technically complex mathematical methods to deal with the inner complexity of biological systems which exhibit features and behaviors very different from those of inert matter". The mathematical approach used in this dissertation is based on the Kinetic Theory of Active Particles (KTAP), that has been specifically develo…

A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE

2006

Recurrent angioedema and the threat of asphyxiation.

2009

Angioedema (also known as Quincke disease) is the name given to edema lasting 1–7 days that recurs at irregular intervals. Target organs are the skin, tongue, glottis and larynx, gastrointestinal tract, and sometimes other soft organs. The clinical symptom referred to as angioedema forms part of a variety of disease entities (Box 1, Figure 1). In Germany, according to the present author’s estimate, several thousand patients suffer from one of the forms of recurrent angioedema. Cases of sudden asphyxiation are rare, but do occur every now and again (1). This review aims to draw attention to the various clinical features of recurrent angioedema and the practical steps for dealing with it, and…

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

2020

Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.

Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy

2020

Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.

Photosensitive Alternative Splicing of the Circadian Clock Gene timeless Is Population Specific in a Cold-Adapted Fly, Drosophila montana.

2018

To function properly, organisms must adjust their physiology, behavior and metabolism in response to a suite of varying environmental conditions. One of the central regulators of these changes is organisms' internal circadian clock, and recent evidence has suggested that the clock genes are also important in the regulation of seasonal adjustments. In particular, thermosensitive splicing of the core clock gene <i>timeless</i> in a cosmopolitan fly, <i>Drosophila melanogaster</i> , has implicated this gene to be involved in thermal adaptation. To further investigate this link we examined the splicing of <i>timeless</i> in a northern malt fly species, <i&…