Heterozygotes
Mostrando 1-12 de 890 artigos, teses e dissertações.
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1. Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the p
Genetics and Molecular Biology. Publicado em: 2023
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2. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four different pathogenic variants were identified. Mutations were distributed all along the PAH gene but
J. inborn errors metab. screen.. Publicado em: 20/12/2019
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4. The liver injury following ischemia and reperfusion is worse in experimental knockout heterozygote mouse model for expression of connexin 43
Abstract Purpose: To evaluate that Connexin (Cx43) plays a role in lesions after hepatic ischemia/reperfusion (IR) injury. Methods: We use Cx43 deficient model (heterozygotes mice) and compared to a wild group. The groups underwent 1 hour ischemia and 24 hours reperfusion. The heterozygote genotype was confirmed by PCR. We analyzed the hepatic enzymes (AST
Acta Cir. Bras.. Publicado em: 13/12/2019
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5. How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients
Abstract Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a
Genet. Mol. Biol.. Publicado em: 13/12/2019
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6. Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals
Abstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentrati
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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7. Variabilidade genética de larvas e alevinos de piracanjuba (Brycon orbignyanus)
RESUMO O objetivo do presente trabalho foi avaliar a variabilidade genética de larvas e alevinos de piracanjuba em programa de repovoamento. Foram coletadas 180 larvas de piracanjuba de três dias e 90 alevinos de três meses de idade. Foram avaliados cinco loci microssatélites, os quais produziram 19 alelos. Não houve presença de alelos raros nem perdas
Arq. Bras. Med. Vet. Zootec.. Publicado em: 06/06/2019
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8. Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mut
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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9. 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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10. Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories
Abstract Major progress occurred in understanding inborn errors of ketone body transport and metabolism between the International Congresses on Inborn Errors of Metabolism in Barcelona (2013) and Rio de Janeiro (2017). These conditions impair either ketogenesis (presenting as episodes of hypoketotic hypoglycemia) or ketolysis (presenting as ketoacidotic epis
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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11. Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region
Abstract The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine c
Genet. Mol. Biol.. Publicado em: 10/10/2016
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12. Anopheles darlingi polytene chromosomes: revised maps including newly described inversions and evidence for population structure in Manaus
Salivary gland polytene chromosomes of 4th instar Anopheles darlingi Root were examined from multiple locations in the Brazilian Amazon. Minor modifications were made to existing polytene photomaps. These included changes to the breakpoint positions of several previously described paracentric inversions and descriptions of four new paracentric inversions, tw
Mem. Inst. Oswaldo Cruz. Publicado em: 2016-05