X Chromosome
Mostrando 1-12 de 2388 artigos, teses e dissertações.
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1. Karyotype characterization and evolution of chromosome number in Cactaceae with special emphasis on subfamily Cactoideae
ABSTRACT Cactaceae species are karyotypically well-known with x = 11 and chromosome number variation due mainly to polyploidization. However, both assumptions are based on descriptive observations without taking an evolutionary framework of Cactaceae into account. Aiming to confirm these hypotheses in an evolutionary context, we obtained chromosome numbers f
Acta Bot. Bras.. Publicado em: 2020-03
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2. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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3. Investigation of chromosomal alterations in patients with Alzheimer's disease in the state of Amazonas, Brazil
RESUMO Doença de Alzheimer (DA) tem como principal característica a deterioração das funções cerebrais. Quanto a sua etiologia ainda é complexa e indefinida, apesar do progresso alcançado na compreensão de seus mecanismos neurológicos, infecciosos, bioquímicos, genéticos e citogenéticos. Considerando isto, nós investigamos a presença de altera
Arq. Neuro-Psiquiatr.. Publicado em: 10/01/2020
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4. Karyotype characterization and evolution of chromosome number in Cactaceae with special emphasis on subfamily Cactoideae
ABSTRACT Cactaceae species are karyotypically well-known with x = 11 and chromosome number variation due mainly to polyploidization. However, both assumptions are based on descriptive observations without taking an evolutionary framework of Cactaceae into account. Aiming to confirm these hypotheses in an evolutionary context, we obtained chromosome numbers f
Acta Bot. Bras.. Publicado em: 11/11/2019
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5. Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil
Abstract: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to
An. Acad. Bras. Ciênc.. Publicado em: 23/09/2019
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6. Genetic linkage map and mapping of the locus of biological nitrogen fixation inefficiency in cowpea
ABSTRACT. The objectives of the present study were to construct a cowpea genetic map using the F2 population resulting from the cross IC-1 x BRS Marataoã, based on single nucleotide polymorphism (SNP) markers, and to map the cpi gene, with additional reference to introgression with the consensus map of species, aiming to identify markers for assisted select
Acta Sci., Agron.. Publicado em: 23/09/2019
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7. [PROVISIONAL] Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and
Genet. Mol. Biol.. Publicado em: 19/08/2019
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8. The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina: Genotype, Experiences, Anecdotes, and New Learnings
Abstract The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to accumulation of its substrate globotriaosylceramide. Diagnosis of FD starts with clinical suspici
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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9. Identification of a Novel TAZ Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome
Abstract Mutations in the tafazzin (TAZ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial phospholipid. TAZ gene was investigated in the proband in our study, who died of dilated cardiomyopathy at 8
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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10. Micropropagation and Cellular Behaviour Changes During in vitro Flowering of Impatiens balsamina
RESUMO: Neste estudo, a micropropagação de Impatiens balsamina foi estabelecida a partir de explantes de caule e parte aérea. Os efeitos do GA3 e da glutationa na morfogênese dessa espécie também foram investigados, de modo a induzir o florescimento in vitro. Verificou-se que a melhor regeneração in vitro de plantas foi obtida em meio MS adicionado c
Planta daninha. Publicado em: 10/06/2019
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11. 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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12. Effect of monoamine oxidase B A644G variant on nicotine dependence and/or schizophrenia risk
Abstract Objectives Schizophrenia (Sch) is a severe and chronic mental illness. Smoking prevalence is higher in patients with Sch than general population. We aimed to investigate the effects of MAOB gene A644G variant on nicotine dependence (ND) and Sch+ND risk in Turkish population and to evaluate by bioinformatic analysis. Methods Present study include
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2019-02