Search results for "mutaatiot"

Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

2021

Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p &lt

Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia

2019

Mitral valve diseases affect approximately 3% of the population and are the most common reasons for valvular surgery because no drug-based treatments exist. Inheritable genetic mutations have now been established as the cause of mitral valve insufficiency, and four different missense mutations in the filamin A gene (FLNA) have been found in patients suffering from non-syndromic mitral valve dysplasia (MVD). The FLNA protein is expressed, in particular, in endocardial endothelia during fetal valve morphogenesis and is key in cardiac development. The FLNA-MVD causing mutations are clustered in the N-terminal region of FLNA. How the mutations in FLNA modify its structure and function, have mos…

Analysis of heteroplasmy in bank voles inhabiting the Chernobyl exclusion zone : A commentary on Baker et al. (2017) "Elevated mitochondrial genome v…

2018

Chromatin structure influences rate and spectrum of spontaneous mutations in Neurospora crassa

2023

While mutation rates have been extensively studied, variation in mutation rates throughout the genome is poorly understood. To understand patterns of genetic variation, it is important to understand how mutation rates vary. Chromatin modifications may be an important factor in determining variation in mutation rates in eukaryotic genomes. To study variation in mutation rates, we performed a mutation accumulation experiment in the filamentous fungus Neurospora crassa, and sequenced the genomes of the 40 MA lines that had been propagated asexually for approximately 1015 [1003, 1026] mitoses. We detected 1322 mutations in total, and observed that the mutation rate was higher in regions of low …

Structural studies on filamin domain interactions

2015

Couch potato -kandidaattigeenissä esiintyvän mutaation vaikutus Drosophila montana -naaraiden lisääntymislepokauteen

2010

Diapaussi on fysiologinen lepotila, jonka aikana eliön elintoiminnot, kasvu ja kehitys hidastuvat ja ääriolosuhteiden, kuten alhaisten lämpötilojen ja kuivuuden, sietokyky paranee. Lisääntymislepokaudella tarkoitetaan aikuisilla hyönteisillä esiintyvää diapaussin muotoa, jonka aikana lisääntymiseen liittyvät toiminnot hidastuvat tai pysähtyvät kokonaan. Drosophila melanogaster -lajin lisääntymislepokauteen on liitetty useita kandidaattigeenejä, joista yksi on couch potato (cpo), ja tämän geenin yhteydestä lisääntymislepokauteen on saatu viitteitä myös pohjoisella D. montana -lajilla. Pro gradu -työssäni tarkasteltiin cpo-geenissä esiintyvän 19 emäsparin kokoisen deleetiomutaation yleisyyttä…