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  1. Article ; Online: Quantitative study of asymmetry in the manifestation of the wings-in and wings-out versions of the Müller-Lyer illusion.

    Bulatov, Aleksandr / Bulatova, Natalija / Marma, Vilius / Kučinskas, Laimutis

    Attention, perception & psychophysics

    2021  Volume 84, Issue 2, Page(s) 560–575

    Abstract: The present study investigated whether the asymmetry in magnitude between the wings-in and wings-out versions of the Müller-Lyer illusion can be explained by the manifestation of accompanying effects of the filled-space illusion. In psychophysical ... ...

    Abstract The present study investigated whether the asymmetry in magnitude between the wings-in and wings-out versions of the Müller-Lyer illusion can be explained by the manifestation of accompanying effects of the filled-space illusion. In psychophysical experiments, the three-dot stimuli were used, and in different series, a single set of the Müller-Lyer wings was attached to the left or to right terminating dot. To check whether the summation of illusory effects occurs, experiments with two sets of the wings forming the Judd figure were performed. To evaluate the standalone manifestation of the filled-space illusion, we conducted experiments with distracting cross (two sets of coinciding and oppositely oriented wings) centered on the lateral terminator of the stimulus. To interpret the experimental data, we used computational procedures of previously developed quantitative models of hypothetical visual mechanisms underlying the emergence of the Müller-Lyer illusion and the filled-space illusion. It was demonstrated that theoretical calculations adequately account for the illusion magnitude variations for all modifications of stimuli, which convincingly supports the suggestion that the concomitant manifestation of the filled-space illusion is powerful enough to be considered as one of the main reasons for the asymmetric properties of illusions of extent of the Müller-Lyer type.
    MeSH term(s) Humans ; Optical Illusions
    Language English
    Publishing date 2021-12-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2464550-3
    ISSN 1943-393X ; 1943-3921
    ISSN (online) 1943-393X
    ISSN 1943-3921
    DOI 10.3758/s13414-021-02412-z
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  2. Article ; Online: Associations of Polymorphisms Localized in the 3'UTR Regions of the

    Insodaite, Ruta / Smalinskiene, Alina / Liutkevicius, Vykintas / Ulozas, Virgilijus / Poceviciute, Roberta / Bielevicius, Arunas / Kucinskas, Laimutis

    Genes

    2021  Volume 12, Issue 11

    Abstract: Background: Genetic variations, localized in the 3' untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The ... ...

    Abstract Background: Genetic variations, localized in the 3' untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3'UTR) of the
    Methods: Genomic DNA and clinical data were collected from 327 adult men with LSCC. The control group was formed from 333 healthy men. Genotyping of the SNPs was performed using TaqMan SNP genotyping assays. Five
    Results: Significant associations of the studied SNPs with reduced LSCC risk were observed between
    Conclusions: According to the present study, 3'UTR SNP in the
    Language English
    Publishing date 2021-10-23
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12111679
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  3. Article: Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors

    Kunceviciene, Edita / Muskieta, Tomas / Sriubiene, Margarita / Liutkeviciene, Rasa / Smalinskiene, Alina / Grabauskyte, Ingrida / Insodaite, Ruta / Juoceviciute, Dovile / Kucinskas, Laimutis

    Genes. 2022 June 28, v. 13, no. 7

    2022  

    Abstract: Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 ... ...

    Abstract Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h²) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220–0.765) and 0.383-fold (95% CI: 0.199–0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654–0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.
    Keywords computer software ; eyes ; genes ; genotyping ; haplotypes ; heritability ; myopia ; quantitative polymerase chain reaction ; risk
    Language English
    Dates of publication 2022-0628
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13071166
    Database NAL-Catalogue (AGRICOLA)

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  4. Article: Associations of Polymorphisms Localized in the 3′UTR Regions of the KRAS, NRAS, MAPK1 Genes with Laryngeal Squamous Cell Carcinoma

    Insodaite, Ruta / Smalinskiene, Alina / Liutkevicius, Vykintas / Ulozas, Virgilijus / Poceviciute, Roberta / Bielevicius, Arunas / Kucinskas, Laimutis

    Genes. 2021 Oct. 23, v. 12, no. 11

    2021  

    Abstract: Background: Genetic variations, localized in the 3′ untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The ... ...

    Abstract Background: Genetic variations, localized in the 3′ untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3′UTR) of the KRAS, NRAS, and MAPK1 genes with LSCC risk and clinicopathological features. Methods: Genomic DNA and clinical data were collected from 327 adult men with LSCC. The control group was formed from 333 healthy men. Genotyping of the SNPs was performed using TaqMan SNP genotyping assays. Five KRAS, NRAS, and MAPK1 polymorphisms were analyzed. All studied genotypes were in Hardy–Weinberg equilibrium and had the same allele distribution as the 1000 Genomes project Phase 3 dataset for the European population. Results: Significant associations of the studied SNPs with reduced LSCC risk were observed between NRAS rs14804 major genotype CC. Significant associations of the studied SNPs with clinicopathologic variables were also observed between NRAS rs14804 minor T allele and advanced tumor stage and positive lymph node status. SNP of MAPK1 rs9340 was associated with distant metastasis. Moreover, haplotype analysis of two KRAS SNPs rs712 and rs7973450 revealed that TG haplotype was associated with positive lymph node status in LSCC patients. Conclusions: According to the present study, 3′UTR SNP in the NRAS and MAPK1 genes may contribute to the identifications of patients at higher risk of LSCC lymph node and distant metastasis development.
    Keywords DNA ; adults ; alleles ; data collection ; genotyping ; haplotypes ; larynx ; lymph nodes ; metastasis ; mitogen-activated protein kinase ; risk ; squamous cell carcinoma
    Language English
    Dates of publication 2021-1023
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12111679
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  5. Article ; Online: Association of CX36 Protein Encoding Gene

    Kunceviciene, Edita / Muskieta, Tomas / Sriubiene, Margarita / Liutkeviciene, Rasa / Smalinskiene, Alina / Grabauskyte, Ingrida / Insodaite, Ruta / Juoceviciute, Dovile / Kucinskas, Laimutis

    Genes

    2022  Volume 13, Issue 7

    Abstract: Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 ... ...

    Abstract Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220−0.765) and 0.383-fold (95% CI: 0.199−0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654−0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.
    MeSH term(s) Astigmatism/epidemiology ; Connexins ; Humans ; Hyperopia/epidemiology ; Hyperopia/genetics ; Myopia/genetics ; Refractive Errors/genetics ; Gap Junction delta-2 Protein
    Chemical Substances Connexins
    Language English
    Publishing date 2022-06-28
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13071166
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  6. Article ; Online: Gut microbial similarity in twins is driven by shared environment and aging

    Ramiro Vilchez-Vargas / Jurgita Skieceviciene / Konrad Lehr / Greta Varkalaite / Cosima Thon / Mindaugas Urba / Egidijus Morkūnas / Laimutis Kucinskas / Karolina Bauraite / Denny Schanze / Martin Zenker / Peter Malfertheiner / Juozas Kupcinskas / Alexander Link

    EBioMedicine, Vol 79, Iss , Pp 104011- (2022)

    2022  

    Abstract: Summary: Background: Human gut microbiome composition is influenced by genetics, diet and environmental factors. We investigated the microbial composition in several gastrointestinal (GI) compartments to evaluate the impact of genetics, delivery mode, ... ...

    Abstract Summary: Background: Human gut microbiome composition is influenced by genetics, diet and environmental factors. We investigated the microbial composition in several gastrointestinal (GI) compartments to evaluate the impact of genetics, delivery mode, diet, household sharing and aging on microbial similarity in monozygotic and dizygotic twins. Methods: Fecal, biopsy and saliva samples were obtained from total 108 twins. DNA and/or RNA was extracted and the region V1-V2 of the 16S rRNA gene was amplified and sequenced. Bray-Curtis similarity was used for further microbiome comparisons, Mann-Whitney test was applied to evaluate the significant differences between groups and Spearman test was applied to reveal potential correlations between data. Findings: The global bacterial profiles were grouped into two clusters separating the upper and lower GI. The upper GI microbiome composition was strictly dependent on the Helicobacter pylori status. With a positivity rate of 55%, H. pylori completely colonized the stomach and separated infected twins from non-infected twins irrespective of zygosity status. Lower GI microbiome similarity between the twins was defined mainly by household-sharing and aging; whereas delivery mode and host genetics had no influence. There was a progredient decrease in the bacterial similarity with aging. Shared vs. non-shared phylotypes analysis showed that in both siblings the shared phylotypes progressively diminished with aging, while the non-shared phylotypes increased. Interpretation: Our findings strongly highlight the aging and shared household as they key determinants in gut microbial similarity and drift in twins irrespective of their zygotic state. Funding: This work was supported by the grant of the Research Council of Lithuania (Project no. APP-2/2016) and also partially supported by the funds of European Commission through the “European funds for regional development” (EFRE) as well as by the regional Ministry of Economy, Science and Digitalization as part of the “LiLife” Project ...
    Keywords Microbiome ; 16S rRNA sequencing ; Aging ; Shared household ; Stomach ; Helicobacter pylori ; Medicine ; R ; Medicine (General) ; R5-920
    Language English
    Publishing date 2022-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Gut microbial similarity in twins is driven by shared environment and aging.

    Vilchez-Vargas, Ramiro / Skieceviciene, Jurgita / Lehr, Konrad / Varkalaite, Greta / Thon, Cosima / Urba, Mindaugas / Morkūnas, Egidijus / Kucinskas, Laimutis / Bauraite, Karolina / Schanze, Denny / Zenker, Martin / Malfertheiner, Peter / Kupcinskas, Juozas / Link, Alexander

    EBioMedicine

    2022  Volume 79, Page(s) 104011

    Abstract: Background: Human gut microbiome composition is influenced by genetics, diet and environmental factors. We investigated the microbial composition in several gastrointestinal (GI) compartments to evaluate the impact of genetics, delivery mode, diet, ... ...

    Abstract Background: Human gut microbiome composition is influenced by genetics, diet and environmental factors. We investigated the microbial composition in several gastrointestinal (GI) compartments to evaluate the impact of genetics, delivery mode, diet, household sharing and aging on microbial similarity in monozygotic and dizygotic twins.
    Methods: Fecal, biopsy and saliva samples were obtained from total 108 twins. DNA and/or RNA was extracted and the region V1-V2 of the 16S rRNA gene was amplified and sequenced. Bray-Curtis similarity was used for further microbiome comparisons, Mann-Whitney test was applied to evaluate the significant differences between groups and Spearman test was applied to reveal potential correlations between data.
    Findings: The global bacterial profiles were grouped into two clusters separating the upper and lower GI. The upper GI microbiome composition was strictly dependent on the Helicobacter pylori status. With a positivity rate of 55%, H. pylori completely colonized the stomach and separated infected twins from non-infected twins irrespective of zygosity status. Lower GI microbiome similarity between the twins was defined mainly by household-sharing and aging; whereas delivery mode and host genetics had no influence. There was a progredient decrease in the bacterial similarity with aging. Shared vs. non-shared phylotypes analysis showed that in both siblings the shared phylotypes progressively diminished with aging, while the non-shared phylotypes increased.
    Interpretation: Our findings strongly highlight the aging and shared household as they key determinants in gut microbial similarity and drift in twins irrespective of their zygotic state.
    Funding: This work was supported by the grant of the Research Council of Lithuania (Project no. APP-2/2016) and also partially supported by the funds of European Commission through the "European funds for regional development" (EFRE) as well as by the regional Ministry of Economy, Science and Digitalization as part of the "LiLife" Project as part of the "Autonomy in old Age" research group (Project ID: ZS/2018/11/95324).
    MeSH term(s) Aging ; Feces/microbiology ; Gastrointestinal Microbiome/genetics ; Helicobacter pylori ; Humans ; RNA, Ribosomal, 16S/genetics
    Chemical Substances RNA, Ribosomal, 16S
    Language English
    Publishing date 2022-04-29
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2022.104011
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  8. Article ; Online: Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population.

    Juzėnas, Simonas / Kupčinskas, Juozas / Valantienė, Irena / Šumskienė, Jolanta / Petrenkienė, Vitalija / Kondrackienė, Jūrate / Kučinskas, Laimutis / Kiudelis, Gediminas / Skiecevičienė, Jurgita / Kupčinskas, Limas

    Medicina (Kaunas, Lithuania)

    2016  Volume 52, Issue 5, Page(s) 269–275

    Abstract: Background and objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked ...

    Abstract Background and objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population.
    Materials and methods: The patient cohort consisted of 209 individuals. Diagnosis of cirrhosis was confirmed by clinical, laboratory parameters, liver biopsy, and radiological imaging. Control samples were obtained from 1005 randomly selected unrelated healthy individuals. HFE gene mutations were determined using the PCR-RFLP method.
    Results: The most common causes of cirrhosis were hepatitis C (33.9%), hepatitis B (13.6%), and alcohol (25.8%). C282Y allele was associated with the presence of cirrhosis (OR=2.07; P=0.005); this was also observed under recessive model for C282Y (OR=2.06, P=0.008). The prevalence of C282Y allele was higher in cirrhotic men than in controls (7.0% vs. 2.8%, P=0.002). The carriage of H63D risk allele (OR=1.54; P=0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR=2.48, P=0.008, and OR=4.13, P=0.005, respectively).
    Conclusions: Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Alleles ; Chi-Square Distribution ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Hemochromatosis Protein/genetics ; Heterozygote ; Humans ; Lithuania/epidemiology ; Liver Cirrhosis/epidemiology ; Liver Cirrhosis/genetics ; Male ; Middle Aged ; Mutation ; Odds Ratio ; Polymerase Chain Reaction ; Prevalence ; Retrospective Studies ; Sex Factors
    Chemical Substances HFE protein, human ; Hemochromatosis Protein
    Language English
    Publishing date 2016
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2188113-3
    ISSN 1648-9144 ; 1010-660X
    ISSN (online) 1648-9144
    ISSN 1010-660X
    DOI 10.1016/j.medici.2016.09.004
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  9. Article ; Online: Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population

    Simonas Juzėnas / Juozas Kupčinskas / Irena Valantienė / Jolanta Šumskienė / Vitalija Petrenkienė / Jūrate Kondrackienė / Laimutis Kučinskas / Gediminas Kiudelis / Jurgita Skiecevičienė / Limas Kupčinskas

    Medicina, Vol 52, Iss 5, Pp 269-

    2016  Volume 275

    Abstract: Background and objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked ... ...

    Abstract Background and objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population. Materials and methods: The patient cohort consisted of 209 individuals. Diagnosis of cirrhosis was confirmed by clinical, laboratory parameters, liver biopsy, and radiological imaging. Control samples were obtained from 1005 randomly selected unrelated healthy individuals. HFE gene mutations were determined using the PCR-RFLP method. Results: The most common causes of cirrhosis were hepatitis C (33.9%), hepatitis B (13.6%), and alcohol (25.8%). C282Y allele was associated with the presence of cirrhosis (OR = 2.07; P = 0.005); this was also observed under recessive model for C282Y (OR = 2.06, P = 0.008). The prevalence of C282Y allele was higher in cirrhotic men than in controls (7.0% vs. 2.8%, P = 0.002). The carriage of H63D risk allele (OR = 1.54; P = 0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR = 2.48, P = 0.008, and OR = 4.13, P = 0.005, respectively). Conclusions: Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.
    Keywords HFE ; C282Y ; H63D ; Liver cirrhosis ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2016-01-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.

    Kucinskas, Laimutis / Just, Walter

    Medicina (Kaunas, Lithuania)

    2005  Volume 41, Issue 8, Page(s) 633–640

    Abstract: The complex mechanisms are responsible for male sex determination and differentiation. The steps of formation of the testes are dependent on a series of Y-linked, X-linked and autosomal genes actions and interactions. After formation of testes the gonads ...

    Abstract The complex mechanisms are responsible for male sex determination and differentiation. The steps of formation of the testes are dependent on a series of Y-linked, X-linked and autosomal genes actions and interactions. After formation of testes the gonads secrete hormones, which are essential for the formation of the male genitalia. Hormones are transcription regulators, which function by specific receptors. Ambiguous genitalia are result of disruption of genetic interaction. This review describes the mechanisms, which lead to differentiation of male sex and ways by which the determination and differentiation may be interrupted by naturally occurring mutations, causing different syndromes and diseases.
    MeSH term(s) Adolescent ; Adult ; Androgens/biosynthesis ; Androgens/physiology ; Chromosome Deletion ; Disorders of Sex Development/genetics ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Mutation ; Pregnancy ; Sex Determination Processes ; Sex Differentiation/genetics ; Sex Differentiation/physiology ; Testicular Hormones/physiology ; Transcription Factors/genetics ; Transcription Factors/physiology ; Transcription, Genetic ; Virilism/genetics
    Chemical Substances Androgens ; Testicular Hormones ; Transcription Factors
    Language English
    Publishing date 2005
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2188113-3
    ISSN 1648-9144 ; 1010-660X
    ISSN (online) 1648-9144
    ISSN 1010-660X
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