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The CYP17-MspA1 rs743572 polymorphism is not associated with gender dysphoria
Rosa Fernández,Joselyn Cortés-Cortés,Esther Gómez-Gil,Isabel Esteva,Mari Cruz Almaraz,Antonio Guillamón,Eduardo Pásaro 한국유전학회 2016 Genes & Genomics Vol.38 No.12
Gender dysphoria is commonly thought to arise from discrepant cerebral and genital sexual differentiation. Increasing evidence supports the idea of genetic vulnerability. The purpose of this paper was to investigate whether the polymorphism CYP17-MspA1 rs743572 is associated with gender dysphoria. Fragments that included the rs743572 polymorphism were PCR amplified and digested with MspA1 in 317 MtFs, 223 FtMs, 358 control men and 264 control women. The allele/genotype frequencies were compared between groups, with the 1000 Genomes Data Base and with international literature. Allele and genotype frequencies did not differ significantly between the FtM and female control groups (v2 = 0.631; p = 0.43 and v2 = 2.767; p = 0.25), or between the MtF and male control groups (v2 = 0.105; p = 0.74 and v2 = 0.789; p = 0.67). A2 frequency was higher in the FtM (0.43) than the female control group (0.41), male control group (0.40), or MtF group (0.39), but this difference did not reach statistical significance. Genotype frequencies did not differ significantly between groups (p = 0.66), between genotypes (p = 0.4) or between sexes (p = 0.66). Our data contradict previous findings about the CYP17-MspA1 rs743572 polymorphism and gender dysphoria and concur with the 1000 Genomes Data Base, which shows that the allele frequencies vary between countries and ethnicities but not between sexes. Our data do not support a hypothetical involvement of the rs743572 polymorphism in the genetic basis of gender dysphoria.
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Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population
Rosa Fernández,Antonio Guillamón,Esther Gómez‑Gil,Isabel Esteva,Mari Cruz Almaraz,Joselyn Cortés‑Cortés,Beatriz Lamas,Estefanía Lema,Eduardo Pásaro 한국유전학회 2018 Genes & Genomics Vol.40 No.5
Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays. Our data showed a higher incidence of cytogenetic alterations in Gender Dysphoria (2.65%) than in the general population (0.53%) (p < 0.0001). When G-banding was performed, 11 MtFs (2.48%) and 8 FtMs (2.93%) showed a cytogenetic alteration. Specifically, Klinefelter syndrome frequency was significantly higher (1.13%) (p < 0.0001), however Turner syndrome was not represented in our sample (p < 0.61). At molecular level, HD microarray analysis revealed a 17q21.31 microduplication which encompasses the gene KANSL1 (MIM612452) in 5 out of 18 MtFs and 2 out of 5 FtMs that corresponds to a copy-number variation region in chromosome 17q21.31. In conclusion, we confirm a significantly high frequency of aneuploidy, specifically Klinefelter syndrome and we identified in 7 out of 23 GD individuals the same microduplication of 572 Kb which encompasses the KANSL1 gene.
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Rhee, Hyun-Woo,Choi, So Jung,Yoo, Sang Ho,Jang, Yong Oh,Park, Hun Hee,Pinto, Rosa Marí,a,Cameselle, José,Carlos,Sandoval, Francisco J.,Roje, Sanja,Han, Kyungja,Chung, Doo Soo,Suh, Junghun American Chemical Society 2009 JOURNAL OF THE AMERICAN CHEMICAL SOCIETY - Vol.131 No.29
<P>Flavins, comprising flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), and riboflavin (RF, vitamin B(2)), play important roles in numerous redox reactions such as those taking place in the electron-transfer chains of mitochondria in all eukaryotes and of plastids in plants. A selective chemosensor for flavins would be useful not only in the investigation of metabolic processes but also in the diagnosis of diseases related to flavins; such a sensor is presently unavailable. Herein, we report the first bifunctional chemosensor (PTZ-DPA) for flavins. PTZ-DPA consists of bis(Zn(2+)-dipicolylamine) and phenothiazine. Bis(Zn(2+)-dipicolylamine) (referred to here as XyDPA) was found to be an excellent catalyst in the conversion of FAD into cyclic FMN (riboflavin 4',5'-cyclic phosphate, cFMN) under physiological conditions, even at pH 7.4 and 27 degrees C, with less than 1 mol % of substrate. Utilizing XyDPA's superior function as an artificial FMN cyclase and phenothiazine as an electron donor able to quench the fluorescence of an isoalloxazine ring, PTZ-DPA enabled selective fluorescent discrimination of flavins (FMN, FAD, and RF): FAD shows ON(+), FMN shows OFF(-), and RF shows NO(0) fluorescence changes upon the addition of PTZ-DPA. With this selective sensing property, PTZ-DPA is applicable to real-time fluorescent monitoring of riboflavin kinase (RF to FMN), alkaline phosphatase (FMN to RF), and FAD synthetase (FMN to FAD).</P>
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Mariana Appel Hort,Elke Zuleika Schuldt,ˆ ngela Cristina Bet,Silvia DalBo,Jarbas Mota Siqueira,,Carla Ianssen,Fa´tima Abatepaulo,Heraldo Possolo de Souza,Beatriz Veleirinho,Marcelo Maraschin,Rosa Mari 한국식품영양과학회 2012 Journal of medicinal food Vol.15 No.10
Moderate wine intake (i.e., 1–2 glasses of wine a day) is associated with a reduced risk of morbidity and mortality from cardiovascular disease. The aim of this study was to evaluate the anti-atherosclerotic effects of a nonalcoholic ethyl acetate fraction (EAF) from a South Brazilian red wine obtained from Vitis labrusca grapes. Experiments were carried out on low-density lipoprotein (LDL) receptor knockout (LDLr−/−) mice, which were subjected to a hypercholesterolemic diet and treated with doses of EAF (3, 10, and 30 mg/kg) for 12 weeks. At the end of the treatment, the level of plasma lipids, the vascular reactivity, and the atherosclerotic lesions were evaluated. Our results demonstrated that the treatment with EAF at 3 mg/kg significantly decreased total cholesterol, triglycerides, and LDL plus very low-density lipoprotein levels compared with control hypercholesterolemic mice. The treatment of mice with EAF at 3 mg/kg also preserved the vasodilatation induced by acetylcholine on isolated thoracic aorta from hypercholesterolemic LDLr−/− mice. This result is in agreement with the degree of lipid deposit on arteries. Taken together, the results show for the first time that the lowest concentration of an EAF obtained from a red wine produced in southern Brazil significantly reduced the progression of atherosclerosis in mice.
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