National Repository of Grey Literature 15 records found  1 - 10next  jump to record: Search took 0.01 seconds. 
Cytochrome P450 oxidoreductase: Structurally functional study. Molecular pathology of Antley-Bixler syndrome.
Tomková, Mária ; Martásek, Pavel (advisor) ; Mazura, Ivan (referee) ; Králová, Jarmila (referee)
NADPH-P450 oxidoreductase (POR) is a membrane bound flavoprotein that donates electrons to a wide spectrum of heme-containing proteins, among which are several steroidogenic and many xenobiotics-metabolizing enzymes. Given the important role of POR protein in drug metabolism and pharmacogenomics, there is a particular need to understand the contributions of POR genetic variants to these processes. Mutations in POR gene cause a disorder called POR deficiency, which manifests with a wide phenotypic spectrum ranging from disordered steroidogenesis to skeletal malformation, namely, Antley-Bixler syndrome (ABS). The aim of the present work was to investigate the POR gene in patients suspected to have POR deficiency syndrome from Czech Republic and to perform genotyping in Czech and Jewish control populations. We analyzed 644 alleles in unrelated individuals from the general Czech population and 1128 alleles in Jewish population, where 330 alleles were of Askhenazi and 798 of Sephardic Jews. We have also studied the impact of selected new genetic variants on POR activity and identified fourteen amino acid variations, two of which we have studied in detail to establish their influence on POR activity. Using the available human POR three-dimensional structure, we then modelled the newly identified variants...
Genetic causes of MODY (Maturity-Onset Diabetes of the Young)- prevalence of mutations in the MODY genes in the Czech diabetic and nondiabetic populations
Lukášová, Petra ; Bendlová, Běla (advisor) ; Gašperíková, Daniela (referee) ; Mazura, Ivan (referee)
I I a I I I I I I I I I I I I I I I I I 6. CONCLUSTONS Theaimsof ourstudywereperformed. Twelvefamilieswithunrecognizedtypeof MODYwerecotlected. Quite largecohortsof DM2patients,direct offspringof DM2patients,gestational diabeticsandsufficienttylargegroupof controlsubjectswerecompleted.Attthe probands underwenta detaitedanthropometricand biochemicalcharacterisation.Datawere filled in anelectronicdatabase. TheDNAbankwasestablishedandcompleted. For GCK gene we adopted screeningmethodsSSCP for all exons specific for B-celts(1a-10)andTGGEfor exons1a-7andwe confirmedtheirhighsensitivityandthe 100%concordanceof both methods.Resultswere consequentlyconfirmedby direct sequencingin bothdirections. We founda novelheterozygousmissensemutationV33Aand a previoustypubtished mutationE40Kin exon2 of GCK genein two differnentCzechMODYfamilies.However, ourstudydid not providethe evidenceof GCK geneas a risk genein the pathogenesis of diabetesmellitustype2 or of the gestationaldiabetesin Czechpopulationbecausewe identifiedontyone intronicmutationin a gestationaldiabeticand no differencesin the frequenciesof GCKpolymorphismsbetweenCzechdiabeticandnondiabeticpopulations. We assessedthe frequencyof commonvariant-30G>Ain B-promoterof GCK gene. Atthoughwe did not detect the higherfrequencyof minor attele A in diabetic in...
Cytochrome P450 oxidoreductase: Structurally functional study. Molecular pathology of Antley-Bixler syndrome.
Tomková, Mária ; Martásek, Pavel (advisor) ; Mazura, Ivan (referee) ; Králová, Jarmila (referee)
NADPH-P450 oxidoreductase (POR) is a membrane bound flavoprotein that donates electrons to a wide spectrum of heme-containing proteins, among which are several steroidogenic and many xenobiotics-metabolizing enzymes. Given the important role of POR protein in drug metabolism and pharmacogenomics, there is a particular need to understand the contributions of POR genetic variants to these processes. Mutations in POR gene cause a disorder called POR deficiency, which manifests with a wide phenotypic spectrum ranging from disordered steroidogenesis to skeletal malformation, namely, Antley-Bixler syndrome (ABS). The aim of the present work was to investigate the POR gene in patients suspected to have POR deficiency syndrome from Czech Republic and to perform genotyping in Czech and Jewish control populations. We analyzed 644 alleles in unrelated individuals from the general Czech population and 1128 alleles in Jewish population, where 330 alleles were of Askhenazi and 798 of Sephardic Jews. We have also studied the impact of selected new genetic variants on POR activity and identified fourteen amino acid variations, two of which we have studied in detail to establish their influence on POR activity. Using the available human POR three-dimensional structure, we then modelled the newly identified variants...
Mutation Analysis in MLBR /Major Ligand Binding Regions/ of COL1A1 gene of the Czech Individuals with Osteogenesis Imperfecta, Type I-IV Diagnosis.
Šormová, Lucie ; Mazura, Ivan (advisor) ; Včelák, Josef (referee)
Osteogenesis imperfecta is an inherited disorder caused mainly by collagen type I genes mutations, COL1A1 and COL1A2. These mutations affect especially connective tissue. Disease is characterized by fragile bones, deformations and increased frequency of fractures. It's worldwide extensive disorder regardless of age, sex, nationality or races. The incidence is 1: 16 - 20 000 births. Currently, we described nine clinically distinct forms of Osteogenesis imperfecta. Only the first four types OI, type I-IV, are caused by collagen type I genes mutations . In these nine types there are distinguished mild and severe forms. Type II and III are lethal forms, death occur offen during prenatal period or in the first days of the life affected individuals. Characteristic clinical features of collagen forms OI are an increased incidence of fractures, deformations of bones, blue sclera, hearing loss, Dentinogenesis imperfecta small or subnormal growth (Marini, 2010). This study alignment is mainly the description of the clinical forms, exploring the molecular basis of disease and determine the relationship between the type and position of the mutation and the resulting phenotype of affected individuals. We have analysed exons 31-40, including associated non-coding regions, of the COL1A1 gene (so-called MLBR =...

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