Isoelectric Focusing
Mostrando 1-12 de 882 artigos, teses e dissertações.
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1. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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2. Clinical, hematological and genetic data of a cohort of children with hemoglobin SD
ABSTRACT INTRODUCTION: The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort o
Rev. Bras. Hematol. Hemoter.. Publicado em: 2016-09
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3. Isolation and Characterization of Midgut Lectin From Aedes aegypti (L.) (Diptera: Culicidae)
ABSTRACT The present investigation deals with the isolation and characterization of a lectin from Aedes aegypti (Ae aegypti) female mid gut extract that agglutinates various mammalian red blood cells (RBCs) such as human three groups A, B, and O (RH+), mouse, rat, guinea-pig, sheep and goat erythrocytes. The highest activity of both crude and isolated mid gu
Braz. arch. biol. technol.. Publicado em: 2015-12
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4. FUNDAMENTOS DE ELETROFORESE CAPILAR: UMA ABORDAGEM POR ANIMAÇÕES
Among the analytical separation techniques, capillary electrophoresis (CE) has attracted attention in both academic and industrial fields, mainly owing to its efficiency, short analysis times, low reagent consumption and residue generation. This is also the case in Chemistry courses, books and papers, demonstrating CE´s well-established status. However,
Quím. Nova. Publicado em: 2015-06
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5. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals
Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a repres
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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6. De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth
Cyanosis in an apparently healthy newborn baby may be caused by hemoglobin variants associated with the formation of methemoglobin, collectively known as M hemoglobins. They should not be confused with genetic alterations in methemoglobin reductase enzyme systems of red cells since treatment and prognosis are completely different. A newborn male child was no
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-06
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7. First characterization of a Providencia stuartii clinical isolate from a Tunisian intensive care unit coproducing VEB-1-a, OXA-2, qnrA6 and aac(6')-Ib-cr determinants
A clinical Providencia stuartii isolate SM662 was recovered from a patient hospitalized in the intensive care unit at the Military hospital, Tunisia. This isolate was resistant to penicillins, cephalosporins, aminoglycosides and fluoroquinolones. A marked in vitro synergy between ceftazidime or cefotaxime and amoxicillin-clavulanic acid on Mueller-Hinton aga
Braz J Infect Dis. Publicado em: 2014-04
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8. Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program
OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months ol
Rev. Bras. Hematol. Hemoter.. Publicado em: 2013
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9. Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients
The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This
Genetics and Molecular Biology. Publicado em: 11/12/2009
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10. Polymorphism of alpha-1-antitrypsin in hematological malignancies
Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and prote
Genetics and Molecular Biology. Publicado em: 23/10/2009
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11. As Enzimas presentes no trato digestivo dos insetos : um alvo susceptível de inibição
Seeds of scarlet runner bean (Phaseolus coccineus L.) were analyzed for -amylase inhibitor (-AI) activity. By using polyclonal antibodies raised against pure a−AI-1 from common bean (Phaseolus vulgaris L.) it was possible to detect the typical -AI polypeptides (Mr 14 -18 kDa) as well as a large polypeptide of Mr 32,000 Da. Differential inhibition curve
Publicado em: 2009
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12. Estudo de bandas oligoclonais restritas ao líquido cefalorraquidiano em pacientes com esclerose múltipla na cidade de São Paulo / Study of oligoclonal bands restricted to the cerebrospinal fluid in multiple sclerosis patients in the city of São Paulo
Introduction: The diagnosis of multiple sclerosis (MS) although clinical, is rounded out with the results of magnetic resonance imaging, in addition to an analysis of the cerebrospinal fluid (CSF), which form a set of indispensible tools. The presence of oligoclonal bands (OCB) in the CSF is used in the study and for the diagnosis of MS. The frequency of OCB
Publicado em: 2009