Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome
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چکیده
منابع مشابه
Hepatocyte Nuclear Factor 1 Inactivation Results in Hepatic Dysfunction, Phenylketonuria, and Renal Fanconi Syndrome
HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen. It is related to the homeobox gene family and is predominantly expressed in liver and kidney. Mice lacking HNF1 fail to thrive and die around weaning after a progressive wasting syndrome with a marked liver enlargement. The transcription rate of genes like albumin and...
متن کاملHepatocyte nuclear factor 1 and hypertensive nephropathy.
Hypertension in spontaneously hypertensive rat (SHR) is associated with renal redox stress, and we hypothesized that nephropathy arises in SHR-A3 from altered capacity to mitigate redox stress compared with nephropathy-resistant SHR lines. We measured renal expression of redox genes in distinct lines of the spontaneously hypertensive rat (SHR-A3, SHR-B2, SHR-C) and the normotensive Wistar-Kyoto...
متن کاملContrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1 and -1 Mutations
OBJECTIVE — Mutations in the highly homologous transcription factors hepatocyte nuclear factor (HNF)-1 and -1 cause maturity-onset diabetes of the young types 3 and 5, respectively. Diabetes due to HNF-1 mutations is well characterized. However, physiological assessment of the HNF-1 phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1 mutations is simil...
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از محوری ترین اثراتی که یک فیلم سینمایی ایجاد می کند دیالوگ هایی است که هنرپیش گان فیلم میگویند. به زعم یک فیلم ساز, یک شیوه متأثر نمودن مخاطب از اثر منظوره نیروی گفتارهای گوینده, مثل نیروی عاطفی, ترس آور, غم انگیز, هیجان انگیز و غیره, است. این مطالعه به بررسی این مسأله مبادرت کرده است که آیا نیروی فراگفتاری هنرپیش گان به مثابه ی اعمال گفتاری در پنج فیلم هالیوودی در نسخه های دوبله شده باز تولید...
15 صفحه اول-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1 Mutation Carriers
RESULTS — HNF-1 mutations were found in 20 offspring, 7 with diabetes and 13 without diabetes. The 13 nondiabetic mutation carriers were compared with 27 family control subjects, who were matched for age, sex, and BMI. There was marked -cell deficiency with reduced insulinogenic index (53.5 [31.5–90.9] vs. 226.0 [126.0–407.1], SD [range], P 0.001) and area under the curve for insulin (P 0.001)....
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ژورنال
عنوان ژورنال: Diabetologia
سال: 2004
ISSN: 0012-186X,1432-0428
DOI: 10.1007/s00125-004-1383-x