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1.
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 inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. 相似文献
2.
The hippocampus and behavioral maturation 总被引:3,自引:0,他引:3
3.
Brunner RM Srikanchai T Murani E Wimmers K Ponsuksili S 《Molecular biology reports》2012,39(1):97-107
Six genes that were known to exhibit expression levels that are correlated to drip loss BVES, SLC3A2, ZDHHC5, CS, COQ9, and
EGFR have been for candidate gene analysis. Based on in silico analysis SNPs were detected, confirmed by sequencing, and used for genotyping. The SNPs were genotyped in about 1,800 animals
from six pig populations including commercial herds of Pietrain (PI) and German Landrace (DL), different commercial herds
of Pietrain × (German Large White × German Landrace) (PIF1(a/b/c)), and one experimental F2-population Duroc × Pietrain (DUPI). Comparative and genetic mapping established the location of BVES on SSC1, of SLC3A2 and
ZDHHC5 on SSC2, of CS on SSC5, of COQ9 on SSC6 and of EGFR on SSC9, respectively, coinciding with QTL regions for carcass
and meat quality traits. BVES, SLC3A2, and CS revealed association at least with drip loss and with several other measures
of water holding capacity (WHC). Moreover, COQ9 and EGFR were associated with several meat quality traits such as meat color
and/or thawing loss. This study reveals statistic evidence in addition to the functional relationship of these genes to WHC
previously evidenced by expression analysis. This study reveals positional and genetic statistical evidence for a link of
genetic variation at these loci or close to them and promotes those six candidate genes as functional and/or positional candidate
genes for meat quality traits. 相似文献
4.
5.
In the River Lobos-Ucero and its tributary the River Avión-Milanos (Duero basin, Old Castile, Central Spain), two limestone streams fed by aquifers, the population of brown trout, as compared with the populations of other European streams, shows a high growth rate, high condition coefficients, short life-span and early age at first maturity. Gonad cycle was also studied. Size distributions of unshed eggs exhibit a dynamic activity with a bi-modal distribution from June onwards, spawning occurred in the last days of November. Fecundity (F) can be predicted from trout length (L, mm) according to the equation: F= –646.47+5.6167 · L. Numbers and standing crop of trout range from 18 to 3903 ind. ha–1 and 3.6 to 452.9 Kg ha–1, reaching higher values in the sites close to the aquifers. Egg production had values of 22.4 and 18.0 eggs m–2 in the Rivers Ucero and Avión-Milanos respectively. Some factors suggested as regulators of these demographical characteristics are discussed in the light of recent literature. 相似文献
6.
7.
Natural antibodies to interferon-gamma 总被引:3,自引:0,他引:3
Natural antibodies to interferon (IFN)-γ were detected in the serum of virus-infected patients and also, at a low titre, in
the serum of healthy subjects. The increased titre of antibodies to IFN-γ in the sera of virus-infected patients, and its
decrease with clinical resolution, indicate that these antibodies are related to viral infection and probably reflect IFN-γ
production as a result of antigenic stimulationin vivo. Natural antibodies to IFN-γ were affinity purified and studied for their capability to interferein vitro with the multiple activities of the lymphokine. Data obtained show that these human anti-IFN-γ antibodies have no inhibitory
effect on the antiviral and antiproliferative activity of IFN-γ and do not interfere with the binding of the lymphokine to
its specific cell receptor. Instead, they can inhibit the expression of HLA-DR antigens induced by IFN-γ on U937 cells and
interfere, in mixed lymphocyte culture, with the proliferation of lymphocytes and the generation of cytotoxic lymphocytes.
Experiments in animal models suggest that natural antibodies to IFN-γ may have a role in the immunoregulatory process limiting
the intensity and/or duration of immune response. As they can interfere only with the immunomodulating activities of IFN-γ,
these antibodies might open up new therapeutic approaches to diseases with evidence of activated cell-mediated immunity. 相似文献
8.
J Ignacio Andrés Jesús Alcázar José M Alonso Adolfo Díaz Javier Fernández Pilar Gil Laura Iturrino Encarna Matesanz Theo F Meert Anton Megens Victor K Sipido 《Bioorganic & medicinal chemistry letters》2002,12(2):249-253
Following the programme started at Janssen Research Foundation searching for 5-HT(2A/2C) antagonists, we now report on the synthesis of a series of substituted 2-(Dimethylaminomethyl)-2,3,3a,8-tetrahydrodibenzo[c,f]isoxazolo[2,3-a]azepine derivatives. The 5-HT(2A), 5-HT(2C) and H(1) receptor affinities as well as the mCPP antagonistic activity of the compounds synthesised is described. 相似文献
9.
10.
Properties of several protein kinases that copurify with rat spinal cord neurofilaments 总被引:2,自引:0,他引:2
C B Caputo L A Sygowski W F Brunner C W Scott A I Salama 《Biochimica et biophysica acta》1989,1012(3):299-307
Several protein kinases that copurify with neurofilaments (NF) were identified and each kinase was assessed for its ability to phosphorylate NF proteins. NFs were isolated using an axonal flotation procedure and the kinases were extracted from NFs with 0.8 M KCl. NF kinases were incubated with peptide substrates for selected protein kinases, [32P]ATP and protein kinase cofactors and inhibitors to characterize the kinases. Using peptide substrates, three types of kinase were identified, and a fourth was identified using NF protein as substrate. The first three kinases were the catalytic subunit of cAMP-dependent protein kinase, calcium-calmodulin dependent protein kinase II and a cofactor-independent kinase that phosphorylated prepro VIP sequence 156-170 and was inhibited by heparin. Using NF proteins as substrate, a fourth kinase was identified which was cofactor-independent and was not inhibited by heparin. Neither cofactor-independent kinase was casein kinase II. NF proteins were phosphorylated in vitro on serine and threonine, primarily by the two cofactor-independent kinases. Using [alpha-32P]8-N3ATP for affinity labeling, one kinase of 43,800 Da was identified. Thus, in addition to cAMP-dependent protein kinase and calcium-calmodulin dependent protein kinase II, two kinases have been found which are primarily responsible for NF phosphorylation in vitro and are cofactor-independent. 相似文献