X Inactivation Pattern
Mostrando 1-12 de 53 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. Expression of the disease on female carriers of X-linked lysosomal disorders : a brief review
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II he
Publicado em: 2011
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3. 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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4. Avaliação de manifestações clínicas e laboratoriais em heterozigotas para mucopolissacridose tipo II
Introdução: A maioria das doenças lisossômicas são herdadas como traços recessivos, mas a mucopolissacaridose tipo II (MPS II) é de herança ligada ao cromossomo X. As doenças ligadas ao cromossomo X possuem um importante impacto para as famílias devido ao risco que as heterozigotas apresentam em ter um filho afetado. A maioria das heterozigotas par
Publicado em: 2010
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5. 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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6. 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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7. Estudo sobre a ação de pectinesterase em suco de laranja
An investigation was undertaken to determine and compare various parameters related to the action of Pectinesterase (PE) in orange juice, and its effect on cloud stability. The juice was made from four varieties of orange used by brazilian citrus processors: Pera Rio, Pera Coroa, Natal and Valencia. The following items were studied: 1) Enzyme activity and ef
Publicado em: 1992
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8. X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.
X linked hypophosphataemia (XLH) results from an abnormality of renal tubular phosphate reabsorption. The disorder is inherited as an X linked dominant trait and the gene has been mapped to Xp22.1-p22.2. A candidate gene (PEX) has recently been isolated. The most striking clinical features are growth retardation and skeletal abnormalities. As expected for X
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9. X inactivation patterns in female monozygotic twins and their families.
X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two of the triplets and their mother had rand
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10. Clonality of chronic neutrophilic leukaemia associated with myeloma: analysis using the X-linked probe M27 beta.
AIMS--To determine whether myeloid proliferation was monoclonal or polyclonal in a woman with chronic neutrophilic leukaemia and myeloma. METHODS--The X-linked probe, M27 beta was used to determine the clonality of the neutrophil population by analysis of restriction fragment length polymorphisms and X inactivation pattern. RESULTS--A polyclonal pattern of X
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11. X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
The patterns of X chromosome inactivation in 43 females from families segregating classic Alport's syndrome (AS) (X linked hereditary nephritis with deafness) have been analysed. AS carrier females have a most variable clinical course. The aim of the study was to establish whether there was any correlation between the X inactivation pattern of a carrier fema
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12. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene o