mutations

altLabel

• geenimutaatiot
• genmutationer

broader

• biological events

closeMatch

• <http://id.loc.gov/authorities/subjects/sh85089128>

exactMatch

• <http://www.yso.fi/onto/allars/Y23194>
• <http://www.yso.fi/onto/koko/p36919>
• <http://www.yso.fi/onto/ysa/Y97576>

hiddenLabel

• geenimutaatio
• genmutation
• mutaatio
• mutation

inScheme

• <http://www.yso.fi/onto/yso/>

modified

• 2017-05-10

name

• mutaatiot

note

• Perintöaineksen muutos, joka ei johdu segregaatiosta tai geneettisestä rekombinaatiosta mutta joka siirtyy tytärsoluille ja vieläpä seuraaville sukupolville aiheuttaen mutanttisolujen tai yksilöiden synnyn.

prefLabel

• mutaatiot
• mutationer
• mutations

related

• genetic variation
• mutants
• variation (biology)

singularAltLabel

• geenimutaatio
• genmutation

singularPrefLabel

• mutaatio
• mutation

source

• Biologian sanakirja

Works about mutations

• A study on genetic mutations involving mitochondrial disorders :
• Analysis of somatic mutations in leukemias
• Applications of fluorescence in situ hybridization : from gene hunting to mutation visualization
• Applications of gene sequence polymorphisms in evolutionary genetic studies of Atlantic salmon (Salmo salar) and other teleost fish species
• Assessing the genetic integrity of tumours by microsatellite loci of forensic interest
• Assessment of copy number variations in the nebulin gene and other nemaline myopathy-causing genes
• Bioinformatic identification of genomic alterations in breast cancer
• BRCA/Fanconi anemia pathway genes in hereditary predisposition to breast cancer
• Catechol-O-methyltransferase and pain in rodents and humans
• Childhood hearing impairment in northern Finland :
• Childhood-onset mitochondrial diseases : with emphasis on molecular diagnostics of neurological disorders
• Chondrodysplasias caused by defects in the Col2a1 gene
• Collagen XVII and pathomechanisms of junctional epidermolysis bullosa and gestational pemphigoid
• Colorectal carcinogenesis via serrated route
• Computational methods for detecting large-scale chromosome rearrangements in SNP data
• Consequences of balanced translocations and loss-of-function mutations
• Defects in tricarboxylic acid cycle enzymes Fumarate hydratase and Succinate dehydrogenase in cancer
• Dissection of the genetic background of childhood onset progressive myoclonic epilepsies
• Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity
• DNA polymerase gamma mutations in male infertility and ageing
• DNAJB6 mutated LGMD1D :
• Dystrophia myotonica type 2 (DM2) in Finland : a mutation with extensive clinical implications
• Eliömaailma rappeutuu : geneettinen entropia & genomin arvoitus
• ERBB4 mutations in cancer and amyotrophic lateral sclerosis
• Evoluutio - tieteen harha-askel? : tutkielma evoluutioteorian tieteellisyydestä
• Evoluutio kriittinen analyysi
• Exposure-related human cancer : molecular changes in sinonasal cancer and lung cancer with focus on TP53 mutations
• Frontotemporal lobar degeneration in Finland : molecular genetics and clinical aspects
• Functional characterization of genetic defects in tumorigenesis
• Functional characterization of MutL homologue mismatch repair proteins and their variants
• Functional characterization of MutS homologue mismatch repair proteins and their variants
• Functional mapping of Mu transposition machinery : MuA protein modification and engineering for hyperactivity
• Functional significance of minor MLH1 germline alterations found in colon cancer patients
• Geneettiset algoritmit : Genetic algorithms
• Genetic and functional studies of severe ventricular arrhythmias
• Genetic and metabolic suppression of mitochondrial disease phenotype in Drosophila
• Genetic and viral factors predicting preschool asthma after early-life bronchiolitis
• Genetic backround and phenotype of autosomal dominant polycystic kidney disease in eastern Finland
• Genetic predisposition to breast and ovarian cancer in Eastern Finnish population
• Genetic selection in human mitochondria
• Genetic variation in the LDL receptor-related protein 5 (LRP5) gene : association with bone health and metabolic parameters
• Genetics of Müllerian aplasia
• Genomic microarrays in chromosomal analysis of leukemia
• Germline mutations of BRCA1 and BRCA2 genes : founder effects and contribution to ovarian carcinoma in Finland
• Hereditary predisposition to breast cancer : evaluation of candidate genes
• Hereditary predisposition to breast cancer : with a focus on AATF, MRG15, PALB2, and three Fanconi anaemia genes
• Hereditary prostate cancer in Finland : from genetic linkage to susceptibility genes
• Human pathogenic mutations in protein domains
• Human peroxisomal multifunctional enzyme type 2 (HsMFE-2) : full-length protein assembly and disease-causing mutations
• Hypoxia-inducible factor prolyl 4-hydroxylase-2 in Tibetan high-altitude adaptation, extramedullary erythropoiesis and skeletal muscle ischemia
• Implications of BRCA1 mutations in basal-like breast cancer development and treatment
• Inherited developmental diseases related to reproductive failures in cattle
• Intramolecular regulation of Janus kinases
• Ion channel gene variants predisposing to severe human ventricular arrhythmias
• Lysyl hydroxylases 1 and 2 : characterization of their in vivo roles in mouse and the molecular level consequences of the lysyl hydroxylase 2 mutations found in Bruck syndrome
• Metsäpuiden erikoismuotoja : kultakuusesta luutakoivuun
• Microevolution of Puumala hantavirus in its host, the bank vole (Myodes glareolus)
• Mitochondrial DNA sequence variation in Finnish patients with maternally inherited type 2 diabetes, epilepsy and mitochondrial disease : risk and novel mutations
• Mitochondrial DNA sequence variation in patients with sensorineural hearing impairment and in the Finnish population
• Molecular and cell phenotype changes in mitochondrial diseases
• Molecular and functional characterization of ABRAXAS and PALB2 genes in hereditary breast cancer predisposition
• Molecular biology methods in assessing radiation-induced hereditary risks in humans
• Molecular dissection of TIE2 and PIK3CA mutations in venous malformations and blue rubber bleb nevus syndrome
• Molecular effects of missense mutations : bioinformatics analysis of genetic defects
• Molecular genetic background of tumours in hereditary leiomyomatosis and renal cell cancer syndrome
• Molecular genetic mechanisms of pulmonary arterial hypertension
• Molecular genetic studies of melanocortin receptors in morbid obesity
• Molecular genetic studies on nemaline myopathy and related disorders
• Molecular genetics of acute intermittent porphyria in Finland
• Molecular genetics of rare puberty disorders in Finland and Denmark
• Molecular genetics of Usher syndrome -inherited deafness and blindness
• Molecular pathogenesis in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
• Molecular pathogenesis of large granular lymphocytic leukemia
• Molecular pathological mechanisms of mitochondrial tRNA points mutations
• Multiple mechanisms of mutant SOD1 toxicity in ALS models
• Mutaation alue : vagus, nomos, moneus = The place of mutation : vagus, nomos, multitudo
• Mutation analysis of TGF-β signaling pathway genes among Finnish patients with primary pulmonary hypertension and hereditary hemorrhagic telangiectasia
• Mutational effects on protein structures : knowledge gained from databases, predictions and protein models
• Mutations as molecular tools : the metabolic-rate dependent molecular clock and DNA barcoding of allied species
• Mutations of mitochondrial DNA polymerase gamma : an important cause of neurological disorders
• New applications for immunoassay based protein microarrays
• Nisin immunity and food-grade transformation in lactic acid bacteria
• Novel player in uterine leiomyomas
• On glucose metabolism in patients with the m.3243A>G mutation
• Oxidative stress in diffuse large B-cell lymphoma and follicular lymphoma, and TP53 mutations and translocations of MYC, Bcl-2 and Bcl-6 in diffuse large B-cell lymphoma
• PALB2 and RAP80 genes in hereditary breast cancer predisposition
• Pathogenetic mechanisms and genotype-phenotype correlations in nemaline myopathies and related disorders caused by mutations in the tropomyosin genes and nebulin
• Pathophysiological and clinical consequences of the mitochondrial DNA 3243A-G mutation
• Periytyvän rintasyöpäalttiusmutaation (BRCA1/2) kantajamiesten hypoteettinen perinnöllisyysneuvontamalli
• Pharmacogenetics of SLCO1B1 : population genetics and effect on statins
• Predictive biomarkers in diffuse gliomas and non-small cell lung cancer
• Recognizing Lynch syndrome by DNA mismatch repair deficiency
• Regulating mitochondrial function : the roles of SIRT3 as a mitochondrial protein deacetylase, and the functions of the Twinkle helicase in mitochondrial DNA maintenance
• Regulation of epidermal tight junctions by calcium ATPases and p38
• Role of the RNF8, UBC13, MMS2 and RAD51C DNA damage response genes and rare copy number variants in hereditary predisposition to breast cancer
• Roles of demography and natural selection in molecular evolution of trees, focus on Pinus sylvestris
• Roles of the nebulin and β-tropomyosin genes in nemaline myopathy
• Stress and long QT syndrome : the role of stress proneness and environmental stress
• Structural studies on filamin domain interactions
• Structural studies on lysosomal proteins
• Studies on genomic instability induced by radiation and chemicals
• Study of hypertrophic cardiomyopathy using human induced pluripotent stem cell derived cardiomyocytes
• Studying the functional relevance of lung cancer genetic drivers in their physiological niche
• Susceptibility genes in hereditary breast cancer
• Säregna former av skogsträd från guldgran till kvastbjörk
• Targeted therapy sensitivity and resistance in solid malignancies
• The age of the mutations in the Finnish disease heritage : a genealogical and linkage disequilibrium study
• The effects of mitochondrial DNA mutagenesis on somatic stem cells and ageing
• The hERG1 (Kv11.1) potassium channel : its modulation and the functional characterisation of genetic variants
• The roles of WOL and APL in phloem development in Arabidopsis thaliana roots
• The spectrum of the phenotypes in the C9ORF72 expansion carriers :
• TOPBP1, CLSPN and PALB2 genes in familial breast cancer susceptibility
• TP53 as clinical marker in head and neck cancer
• Use of pyrosequencing to identify streptococci and to detect mutations causing antimicrobial resistance
• Venous malformation causative mutations affect TIE2 receptor trafficking, downstream signaling and vascular endothelial cell functions