Mutation
Mostrando 37-48 de 21608 artigos, teses e dissertações.
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37. Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiag
Genet. Mol. Biol.. Publicado em: 20/01/2020
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38. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
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39. 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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40. 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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41. Heterologous expression and mutagenesis of recombinant Vespa affinis hyaluronidase protein (rVesA2)
Abstract Background: Crude venom of the banded tiger waspVespa affinis contains a variety of enzymes including hyaluronidases, commonly known as spreading factors. Methods: The cDNA cloning, sequence analysis and structural modelling of V. affinis venom hyaluronidase (VesA2) were herein described. Moreover, heterologous expression and mutagenesis of rVesA2
J. Venom. Anim. Toxins incl. Trop. Dis. Publicado em: 05/12/2019
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42. Canine POMC deletion (P187fs) allele frequency in Labrador Retrievers in Brazil
RESUMO: O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrad
Pesq. Vet. Bras.. Publicado em: 02/12/2019
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43. Analysis of drug resistance mutations in pulmonary Mycobacterium tuberculosis isolates in the Southern coastal region of Andhra Pradesh, India
ABSTRACT Purpose and objectives Detection of drug resistance plays a crucial role in tuberculosis (TB) treatment and prevention of Mycobacterium tuberculosis (MTB) transmission. The aim of this study was to determine the levels and patterns of resistance of MTB isolates to two key anti-TB drugs (rifampicin, RIF and isoniazid, INH) and the type of mutations
Braz J Infect Dis. Publicado em: 25/11/2019
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44. Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The fe
Int. braz j urol.. Publicado em: 07/11/2019
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45. Pure line selection in a heterogeneous soybean cultivar
Abstract Although cultivars of autogamous plants are homogeneous genotypes, they may show natural variability due to mechanical mixing, natural hybridization, and mutation. The aim of the present study was to estimate genetic and phenotypic parameters and to identify and select superior genotypes that associate good performance in traits of interest from a h
Crop Breed. Appl. Biotechnol.. Publicado em: 31/10/2019
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46. Effect of LCORL gene polymorphism on body size traits in horse populations
ABSTRACT. The aim of this study was to determine polymorphism of LCORL gene in horse breeds and its association with body size. PCR-RFLP technique was performed using AluI for genotyping of 306 horses. Results showed that C is the rare allele in Iranian Breeds, because these horses have been used since ancient times as a courier and for war and archery, henc
Acta Sci., Anim. Sci.. Publicado em: 24/10/2019
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47. [PROVISIONAL] Resistance mutations of NS3 and NS5b in treatment-naïve patients infected with Hepatitis C virus in Santa Catarina and Rio Grande do Sul States, Brazil
Abstract Hepatitis C virus (HCV) infection is a worldwide health problem. Nowadays, direct-acting antiviral agents (DAAs) are the main treatment; however, the high level of variability of HCV lead to development of resistance-associated variants (RAVs). Thus, look into the RAVs among infected patients is an important tool for monitoring the efficacy of the t
Genet. Mol. Biol.. Publicado em: 21/10/2019
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48. Description of a human Bocavirus recombinant strain in the Americas
Human bocaviruses (HBoV) are mainly associated with respiratory and gastroenteric infections. These viruses belong to the family Parvoviridae, genus Bocaparvovirus and are classified in four subtypes (HBoV1-4). Recombination and point mutation have been described as basis of parvovirus evolution. In this study three viral sequences were obtained from positiv
Mem. Inst. Oswaldo Cruz. Publicado em: 21/10/2019