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| Bonatto,Naieli; Nogaroto,Viviane; Svidnicki,Paulo V.; Milléo,Fábio Q.; Grassiolli,Sabrina; Almeida,Mara C.; Vicari,Marcelo R.; Artoni,Roberto F.. |
| 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 the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MODY3; Molecular diagnosis; Diabetes mellitus; Nucleotide sequencing. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500005 |
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| Xavier,João Lucas P.; Scomparin,Dionizia X.; Pontes,Catherine C.; Ribeiro,Paulo Roberto; Cordeiro,Maiara M.; Marcondes,Jessica A.; Mendonça,Felipe O.; Silva,Makcine T. da; Oliveira,Fabio B. de; Franco,Gilson C.N.; Grassiolli,Sabrina. |
| In the present study we analyzed morphological and metabolic alterations in dams nursing small litters and their consequences to offspring throughout lactation. Offspring sizes were adjusted to Small Litter (SL, 3 pups/ dam) and Normal Litter (NL, 9 pups/ dam). Body weight, food intake, white adipose tissue (WAT) content, histological analysis of the pancreas, mammary gland (MG) and brown adipose tissue (BAT) as well as, plasma parameters and milk composition were measured in dams and pups on the 7th, 14th and 21st days of lactation. In general, SL-dams presented higher body weight and retroperitoneal fat content, elevated fat infiltration in BAT, reduced islets size and hyperglycemia throughout lactation in relation to NL-dams (p<0.05). Moreover, MG... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dams; Metabolic programming; Milk; Offspring. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000100803 |
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