Mody 3
Mostrando 1-12 de 28 artigos, teses e dissertações.
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1. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects
Arch. Endocrinol. Metab.. Publicado em: 2020-02
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3. MODY probability calculator for GCK and HNF1A screening in a multiethnic background population
ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects
Arch. Endocrinol. Metab.. Publicado em: 30/09/2019
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4. Diabetes monogênica tipo MODY com início na juventude causado por uma mutação GKC de novo não descrita anteriormente
O diabetes da maturidade com início na juventude (MODY) é um grupo heterogêneo de doenças monogênicas que resultam em disfunção das células β, com uma prevalência estimada de 1-2% nos países industrializados. O MODY geralmente ocorre em pacientes não obesos, negativos para autoanticorpos e que apresentam hiperglicemia de leve a moderada. As carac
Arq Bras Endocrinol Metab. Publicado em: 2014-10
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5. INVESTIGAÇÃO DE MODY 3 EM PACIENTES DO AMBULATÓRIO DE DM 1 DO HOSPITAL UNIVERSITÁRIO DA UNIVERSIDADE FEDERAL DO MARANHÃO (HUUFMA) / INVESTIGATION OF MODY 3 IN PATIENTS OF THE AMBULATORY OF DM 1 OF UNIVERSITY HOSPITAL OF THE FEDERAL UNIVERSITY OF MARANHÃO (HUUFMA)
Maturity onset diabetes of young 3 (MODY 3)é o mais frequente diabetes mellitus (DM) monogênico autossômico dominante causado por mutações no gene HNF 1A e caracterizado por defeito na secreção de insulina, diminuição no limiar renal de glicose e sensibilidade a sulfonureia, na maioria das vezes. Com frequência é diagnosticado erroneamente como DM
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 16/03/2012
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6. Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil
Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from
Genet. Mol. Biol.. Publicado em: 09/10/2012
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7. A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis
Clinics. Publicado em: 2010
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8. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect.
Maturity-onset diabetes of the young (MODY) type 3 is a dominantly inherited form of diabetes, which is often misdiagnosed as non-insulin-dependent diabetes mellitus (NIDDM) or insulin-dependent diabetes mellitus (IDDM). Phenotypic analysis of members from four large Finnish MODY3 kindreds (linked to chromosome 12q with a maximum lod score of 15) revealed a
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9. Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic disorder characterized by autosomal dominant inheritance, onset usually before 25 yr of age, and abnormal pancreatic beta-cell function. Mutations in the hepatocyte nuclear factor(HNF)-4alpha/MODY1, glucokinase/MODY2, and HNF-1alpha/MODY3 genes can cause this form of diabete
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10. Naturally occurring mutations in the human HNF4α gene impair the function of the transcription factor to a varying degree
The hepatocyte nuclear factor (HNF)4α, a member of the nuclear receptor superfamily, regulates genes that play a critical role in embryogenesis and metabolism. Recent studies have shown that mutations in the human HNF4α gene cause a rare form of type 2 diabetes, maturity onset diabetes of the young (MODY1). To investigate the properties of these naturally
Oxford University Press.
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11. Mapping of murine diabetogenic gene mody on chromosome 7 at D7Mit258 and its involvement in pancreatic islet and beta cell development during the perinatal period.
Mutation of the murine maturity-onset diabetes mellitus of the young (Mody) locus induces diabetes, but the effects of its homozygosity on the pancreas remain unknown. F2 mice were obtained by F1 (diabetic C57BL6 x normal Mus musculus castaneus) crosses. About 20% of the F2 progeny developed diabetes by 2 wk of age, 50% of the progeny were normal at 2 wk and
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12. HNF1α controls renal glucose reabsorption in mouse and man
Recently it has been shown that dominant mutations in the human hepatocyte nuclear factor 1 α (HNF1α) gene, encoding for a homeoprotein that is expressed in liver, kidney, pancreas and intestine, result in maturity onset diabetes of the young type 3 (MODY3). HNF1α-null mice are diabetic, but at the same time suffer from a renal Fanconi syndrome characteri
Oxford University Press.