Navegação Ciências da Saúde por Assunto "Mutação"
Resultados 1-14 de 14
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Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil
(2019) [Artigo de periódico]Mutations in the ESR1 gene (ESR1m) are important mechanisms of resistance to endocrine therapy in estrogen receptor-positive advanced breast cancer and have been recognized as a prognostic and predictive biomarker as well ... -
A case report on the challenging diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2)
(2020) [Artigo de periódico]Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient ... -
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)
(2023) [Artigo de periódico]Background: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There ... -
Conservation patterns of HIV-1 RT connection and RNase H domains : identification of new mutations in NRTI-treated patients
(2008) [Artigo de periódico]Background: Although extensive HIV drug resistance information is available for the first 400 amino acids of its reverse transcriptase, the impact of antiretroviral treatment in C-terminal domains of Pol (thumb, connection ... -
Diagnóstico de fibrose cística através de pesquisa genética expandida em paciente adulto com apresentação atípica
(2011) [Artigo de periódico]A Fibrose cística (FC) é uma desordem multissistêmica, caracterizada principalmente por doença pulmonar crônica e anormalidades gastrintestinais e nutricionais, que apresenta grande variabilidade de expressão entre os ... -
Extensive variation in drug-resistance mutational profile of Brazilian patients failing antiretroviral therapy in five large Brazilian cities
(2016) [Artigo de periódico]Background: Development of drug-resistance mutations is the main cause of failure in antiretroviral therapy. In Brazil, there is scarce information on resistance pattern for patients failing antiretroviral therapy. Objectives: ... -
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants
(2021) [Artigo de periódico]Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ... -
Newborn screening for biotinidase deficiency in Brazil : biochemical and molecular characterizations
(2004) [Artigo de periódico]Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using ... -
Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart
(2019) [Artigo de periódico]Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of ... -
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
(2012) [Artigo de periódico]Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a “bottleneck”, ... -
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil
(2014) [Artigo de periódico]Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population ... -
Targeted sequencing identifies novel variants in common and rare MODY genes
(2019) [Artigo de periódico]Background: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, ... -
The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma : a case report and review of the literature
(2012) [Artigo de periódico]Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in ...
