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1.
Stem Cell Res ; 75: 103306, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38271763

RESUMEN

We have generated MLi005-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with dominant dystrophic epidermolysis bullosa (DDEB). This iPSC line may be used as a model system for studies on skin integrity, the extracellular matrix and skin barrier function. The characterization of the MLi005-A cell line consisted of molecular karyotyping, next-generation sequencing of the COL7A1 alleles, pluripotency and differentiation potentials testing by immunofluorescence of associated markers in vitro. The MLi-005A line has been also tested for ability to differentiate into fibroblasts and keratinocytes and markers associated with these cell types.


Asunto(s)
Epidermólisis Ampollosa Distrófica , Células Madre Pluripotentes Inducidas , Humanos , Masculino , Epidermólisis Ampollosa Distrófica/genética , Epidermólisis Ampollosa Distrófica/metabolismo , Células Madre Pluripotentes Inducidas/metabolismo , Colágeno Tipo VII/genética , Colágeno Tipo VII/metabolismo , Piel/metabolismo , Queratinocitos/metabolismo
2.
Stem Cell Res ; 55: 102463, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34284275

RESUMEN

We have generated MLi004-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a female patient with recessive dystrophic epidermolysis bullosa (RDEB). This iPSC line may be used as a model system for studies on skin integrity, the extracellular matrix and skin barrier function. The characterization of the MLi004-A cell line consisted of molecular karyotyping, next-generation sequencing of the COL7A1 alleles, pluripotency and differentiation potentials testing by immunofluorescence of associated markers in vitro. The MLi-004A line has been also tested for ability to differentiate into fibroblasts.


Asunto(s)
Epidermólisis Ampollosa Distrófica , Células Madre Pluripotentes Inducidas , Colágeno Tipo VII/genética , Epidermólisis Ampollosa Distrófica/genética , Femenino , Fibroblastos , Humanos , Mutación , Piel
3.
World J Psychiatry ; 11(12): 1301-1313, 2021 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-35070779

RESUMEN

BACKGROUND: Suicide is a major public health problem. Worldwide, around 800000 people die by suicide every year. Suicide is a multifactorial disorder, with numerous environmental and genetic risk factors involved. Among the candidate genes, changes in the BDNF locus at the gene, epigenetic, mRNA, and protein expression levels have been implicated in psychiatric disorders, including suicidal behavior and completed suicides. AIM: To investigate changes in BDNF methylation and expression of four alternative BDNF transcripts for association with completed suicide. METHODS: This case-control study included 42 unrelated male Caucasian subjects, where 20 were control subjects who died following acute cardiac arrest, and 22 were suicide victims who died by hanging. DNA and RNA were extracted from brain tissue (Brodmann area 9 and hippocampus) and from blood. DNA methylation and mRNA expression levels were determined by targeted bisulfite next-generation sequencing and reverse-transcription quantitative PCR. Statistical analysis was done by use of two-tailed Student's t tests for two independent samples, and the Benjamini-Hochberg procedure was implemented for correction for multiple comparisons. RESULTS: In DNA from brain tissue, there were no significant differences in BDNF methylation between the study groups. However, data showed significantly reduced DNA methylation of the BDNF region upstream of exon I in blood samples of suicide victims compared to the controls (5.67 ± 0.57 vs 6.83 ± 0.64, P corr = 0.01). In Brodmann area 9 of the brain of the suicide victims but not in their hippocampus, there was higher expression of BDNF transcript I-IX (NM_170731.4) compared to the controls (0.077 ± 0.024 vs 0.05 ± 0.013, P = 0.042). In blood, expression analysis for the BDNF transcripts was not feasible due to extensive RNA degradation. CONCLUSION: Despite the limitations of the study, the obtained data further support a role for BDNF in suicidality. However, it should be noted that suicidal behavior is a multifactorial disorder with numerous environmental and genetic risk factors involved.

4.
Stem Cell Res ; 37: 101424, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30933721

RESUMEN

We have generated MLi002-A, a new induced pluripotent stem cell (iPSC) line derived from keratinocytes of a skin punch biopsy of a female patient with the severe epidermolysis bullosa simplex Dowling-Meara phenotype and the keratin K5 E475G mutation. Keratinocytes were reprogrammed using non-integrating Sendai virus vectors, and xeno-free culture conditions were used throughout. The characterization of MLi002-A cell line consisted of molecular karyotyping, mutation screening using restriction enzyme digestion and Sanger sequencing, and testing of the pluripotency and differentiation potentials by immunofluorescence of associated markers both in vitro and in vivo. This is the first iPSC model of EB Simplex.


Asunto(s)
Diferenciación Celular , Reprogramación Celular , Epidermólisis Ampollosa Simple/genética , Células Madre Pluripotentes Inducidas/patología , Queratina-5/genética , Queratinocitos/patología , Mutación , Células Cultivadas , Epidermólisis Ampollosa Simple/patología , Femenino , Heterocigoto , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Queratinocitos/metabolismo , Fenotipo
5.
Psychiatr Genet ; 25(6): 241-8, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26462037

RESUMEN

OBJECTIVE: The most abundant neurotrophin in the mammalian brain is brain-derived neurotrophic factor (BDNF), which acts through binding to neurotrophic tyrosine kinase receptor type 2 (NTRK2) and to nerve growth factor receptor (NGFR). Our previous work showed an association of the single nucleotide polymorphism (SNP) rs6265 in the BDNF gene with completed suicide in the Slavic population. Therefore, we extended the investigation to the SNPs within NTRK2 and NGFR genes and searched for associations with the completed suicide phenotype. MATERIALS AND METHODS: In 775 Caucasian individuals, namely, 486 suicide completers and 289 controls, we performed genotyping of five SNPs within the NTRK2 (rs11140714, rs1147198, rs1187323, rs10780691, and rs10868235) and six SNPs within the NGFR (rs2072446, rs7219709, rs7224806, rs734194, rs741071, and rs741072) genes. RESULTS: We did not find evidence for an association of the SNPs studied with the phenotype either on the single marker or on the haplotype level. CONCLUSION: To our knowledge, this is the first study that has examined SNPs in the NTRK2 and NGFR genes for associations with the completed suicide phenotype. However, our findings suggest that these SNPs may not be associated particularly with completed suicide in Slovenia, although they might have a relevant informative value as the study has been carried out on a sample from a population that has one of the highest suicide rates in the world.


Asunto(s)
Glicoproteínas de Membrana/genética , Proteínas del Tejido Nervioso/genética , Proteínas Tirosina Quinasas/genética , Receptores de Factor de Crecimiento Nervioso/genética , Suicidio/estadística & datos numéricos , Población Blanca/genética , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Receptor trkB , Eslovenia/epidemiología
6.
Neurosci Lett ; 602: 12-6, 2015 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-26115627

RESUMEN

In recent years, brain-derived neurotrophic factor (BDNF) and sequence variations within and near the BDNF gene have been studied for associations with various psychiatric disorders, including suicidal behavior. Since our previous work on completed suicide in Slavic population showed an association of the functional single nucleotide polymorphism (SNP) rs6265 in the BDNF gene, we decided to extend the investigation and test additional SNPs in the BDNF gene, rs7124442, rs10767664, rs962369, rs12273363, rs908867, rs1491850, and rs1491851, for association with completed suicide. Our study subjects were Caucasians, and included 486 suicide completers and 289 controls. The case/control comparisons of allele, genotype and haplotype frequency distributions were performed by means of Pearson's X(2) tests. Analyses of allele and genotype frequency distributions of the sudied SNPs did not reveal any significant differences between the controls and suicide completers. Haplotype analysis (rs7124442-rs10767664-rs962369-rs12273363-rs908867) showed an association of the haplotype C-A-T-C-C (p(corr)=0.038) with completed suicide, indicating that these SNPs on a haplotype level may play a role in completed suicide phenotype in our study sample.


Asunto(s)
Factor Neurotrófico Derivado del Encéfalo/genética , Suicidio , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Eslovenia
7.
Data Brief ; 4: 529-33, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26966717

RESUMEN

This data article provides the data generated from additional analyses of a genetic association study, where 7 single nucleotide polymorphisms (SNPs) near/within the brain-derived neurotrophic factor (BDNF) gene were investigated for an association with completed suicide in Slavic population (Ropret et al., 2015) [1]. One SNP was excluded from the present analyses due to insufficient genotyping rate (rs1491850) and the remaining 6 SNPs (rs7124442, rs10767664, rs962369, rs12273363, rs908867, rs1491851) were analyzed to gain deeper insight into the possible role of these SNPs in the studied phenotype. We present data on logistic regression analyses of: (a) genotypes under four inheritance models, and (b) haplotypes using 2-, 3- and 4-adjacent SNPs sliding window procedure. In both analyses adjustments for potential confounders (age, gender and alcohol dependence syndrome status) were executed. Data may serve as a reference for comparison of the populations with either low or very high suicide rates. The raw genotyping data that could be used in case meta-analyses should be performed may be provided upon request.

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