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Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
(2013-03-01)
Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary ...
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
(2007-07-02)
Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The ...
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
(Lippincott Williams & Wilkins, 2009-04-01)
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial ...
Report of a chimeric origin of transposable elements in a bovine-coding gene
(2008-04-22)
Despite the wide distribution of transposable elements (TEs) in mammalian genomes, part of their evolutionary significance remains to be discovered. Today there is a substantial amount of evidence showing that TEs are ...
Gene Mutations in Esophageal Mucosa of Chagas Disease Patients
(Int Inst Anticancer Research, 2009-04-01)
Background: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR-SSCP analysis and DNA sequencing of esophageal mucosa from Chagas ...
No mutations found in exons of TP53, H-RAS and K-RAS genes in liver of male Wistar rats submitted to a medium-term chemical carcinogenesis assay
(Sociedade Brasileira de Patologia ClínicaSociedade Brasileira de PatologiaSociedade Brasileira de Citopatologia, 2002-07-01)
O teste padrão para identificar o potencial cancerígeno de compostos químicos é o estudo de longa duração em roedores, não realizado no Brasil. Nosso laboratório estabeleceu um teste alternativo de média duração (ensaio ...
β-casein gene polymorphism permits identification of bovine milk mixed with bubaline milk in mozzarella cheese
(2008-12-01)
Mozzarella cheese is traditionally prepared from bubaline (Bubalus bubalis) milk, but product adulteration occurs mainly by addition of or full substitution by bovine milk. The aim of this study was to show the usefulnes ...
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
MODY 2: Mutation identification and molecular ancestry in a Brazilian family
(2013-01-10)
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of ...