X Chromosome Inactivation
Mostrando 1-12 de 235 artigos, teses e dissertações.
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1. Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
Abstract X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptomatology of heterozygotes depends on the inactivation pattern of X chromosome. Hyperammonemic episodes
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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2. Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line
DNA methylation is essential in X chromosome inactivation and genomic imprinting, maintaining repression of XIST in the active X chromosome and monoallelic repression of imprinted genes. Disruption of the DNA methyltransferase genes DNMT1 and DNMT3B in the HCT116 cell line (DKO cells) leads to global DNA hypomethylation and biallelic expression of the imprin
Braz J Med Biol Res. Publicado em: 17/10/2014
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3. Início e manutenção da inativação do cromossomo X em células humanas / Establishment and maintenance of X-chromosome inactivation in human cells
Em fêmeas de mamíferos, um dos cromossomos X é inativado proporcionando compensação de dose entre os produtos gênicos de machos e fêmeas. A inativação do cromossomo X (ICX) ocorre no embrião em desenvolvimento, e se caracteriza pela aquisição de marcas heterocromáticas no cromossomo X inativado (Xi), que são mantidas nas células somáticas ao
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/04/2012
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4. Estabilidade do controle epigenético em células humanas normais e transformadas / Stability of epigenetic control in normal and transformed human cells
A epigenética aborda o controle da expressão gênica através de diversos fatores que agem sob a cromatina, os melhor estudados são a metilação do DNA e a acetilação em histonas, relacionadas à repressão e ativação gênica, respectivamente. Em mamíferos, existem dois fenômenos epigenéticos interessantes: a inativação do cromossomo X (ICX) em
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/03/2012
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5. Estudo do padrão de inativação do cromossomo X em tecido extra-embrionário humano / X-chromosome inactivation pattern in human extra-embryonic tissue
Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation (XCI) evolved into a random process in cells from the embryo proper, where either the maternal or paternal X can be inactivated. However,
Publicado em: 2010
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6. Estabelecimento do padrão de inativação do cromossomo x em embriões bovinos produzidos in vitro / Establishment of x chromosome inactivation in in vitro produced bovine embryos
O cultivo in vitro de embriões afeta mecanismos epigenéticos envolvidos no controle da expressão de genes relacionados ao desenvolvimento embrionário e inativação do cromossomo X. Fêmeas de mamíferos têm dois cromossomos X, e machos somente um. Isto levou à criação de um mecanismo evolutivo de compensação de dose, chamado inativação do cromos
Publicado em: 2010
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7. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, convention
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-05
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8. Análise funcional dos genes Xist e DNMT1 na manutenção do processo de inativação do cromossomo X humano através do silenciamento gênico por RNAi / Functional analysis of XIST and DNMT1 genes in the maintenance of X chromosome inactivation process in human through gene silencing by RNAi
X chromosome inactivation (XCI) is the phenomenon through which one of the X chromosomes in female mammals is silenced to achieve dosage compensation related to males. It involves the expression of XIST gene exclusively from the inactive X, and the association of its RNA in cis in this chromosome. This leads to a series of epigenetic modifications in the chr
Publicado em: 2008
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9. Disturbios do desenvolvimento cortical e epilepsia autossomica dominante com auras auditivas : estudos geneticos e moleculares / Malformations of cortical development and autosomal dominant partial epilepsy with auditory features
Temporal Lobe Epilepsy (TLE) and malformations of cortical development (MCD) are two of the most important causes of epilepsy. Extensive molecular genetic studies have resulted in gene discovery for MCD such as periventricular nodular heterotopia (PNH), lisencephaly/ subcortical band heterotopia spectrum (LIS-SBH), schizencephaly, polymicrogyria and for a su
Publicado em: 2008
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10. Expression of the CTCF gene in bovine oocytes and preimplantation embryos
The CCCTC - binding factor (CTCF) is a protein involved in repression, activation, hormone-inducible gene silencing, functional reading of imprinted genes and X-chromosome inactivation. We analyzed CTCF gene expression in bovine peripheral blood, oocytes and in different cellular stages (2-4 cells, 8-16 cells, 16-32 cells, morulae, and blastocysts) of in vit
Genetics and Molecular Biology. Publicado em: 2007
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11. Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis
X inactivation is a chromosome-specific form of genetic regulation in which thousands of genes on one homologue become silenced early in female embryogenesis. Although many aspects of X inactivation are now understood, the spread of the X inactivation signal along the entire length of the chromosome remains enigmatic. Extending the Gartler–Riggs model [Gar
National Academy of Sciences.
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12. Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders
Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the relationship between skewed X-chromosome inactivation and X-linked mental retardation (XLMR) disorders, we used the androgen receptor X-inactivation assay to de
The American Society of Human Genetics.