Results 271 to 280 of about 79,825 (316)

Serum amino acids in patients with mutations in the hepatocyte nuclear factor‐1 alpha gene

Diabetic Medicine, 2004
AbstractAims  Knockout mice lacking both copies of the hepatocyte nuclear factor 1 (HNF1) gene have altered serum levels of amino acids and generalized aminoaciduria. The aim of our study was to test whether alterations in serum amino acid levels were found in patients with mutations in the hepatocyte nuclear factor‐1 alpha (HNF‐1α) gene compared with ...
Stride, A., Pearson, E. R., Brown, A., Gooding, K., Castleden, H. A. J., Hattersley, A. T.   +5 more
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Hepatocyte nuclear factor 1 alpha (HNF-1?) mutations in maturity-onset diabetes of the young

Human Mutation, 2000
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset (
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Hepatocyte Nuclear Factor 1 Alpha is a Factor Responsible for the Interindividual Variation of OATP1B1 mRNA Levels in Adult Japanese Livers

Pharmaceutical Research, 2007
The aim of the present study was to clarify the factors responsible for interindividual variability of organic anion transporting polypeptide (OATP, gene symbol SLCO) 1B1 mRNA expression level in the human liver.OATP1B1 mRNA expression levels were determined by real-time PCR in 31 human liver samples.
Tomomi, Furihata, Tomomi, Satoh, Naoko, Yamamoto, Kaoru, Kobayashi, Kan, Chiba   +4 more
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Identification of Mutations in the Hepatocyte Nuclear Factor (HNF)-1α Gene in Japanese Subjects With IDDM

Diabetes, 1997
One form of maturity-onset diabetes of the young, MODY3, is characterized by a severe insulin secretory defect, compared with MODY2, a glucokinase-deflcient diabetes. It has recently been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1α cause MODY3. Because of the rapid progress to overt diabetes and
S, Yamada, H, Nishigori, H, Onda, T, Utsugi, T, Yanagawa, T, Maruyama, K, Onigata, K, Nagashima, R, Nagai, A, Morikawa, T, Takeuchi, J, Takeda   +11 more
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Hepatocyte nuclear factor-4??/?? and hepatocyte nuclear factor-1?? as causal factors of interindividual difference in the expression of human dihydrodiol dehydrogenase 4 mRNA in human livers

Pharmacogenetics, 2003
Human dihydrodiol dehydrogenase (DD) catalyses the oxidation of trans-dihydrodiols of polycyclic aromatic hydrocarbons and the reduction of several ketone-containing drugs. About 40-fold interindividual difference in DD activities has been noted. Recently, we found that transcriptional factors, hepatocyte nuclear factor (HNF)-1 alpha, HNF-4 alpha and ...
Takeshi, Ozeki, Yoshiki, Takahashi, Kazuo, Nakayama, Masato, Funayama, Kazuo, Nagashima, Takao, Kodama, Tetsuya, Kamataki   +6 more
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Hepatocyte Nuclear Factor 1 α Controls Renal Expression of the Npt1-Npt4 Anionic Transporter Locus

Journal of Molecular Biology, 2002
Hepatocyte nuclear factor 1 alpha (HNF1alpha) is a transcription factor that is expressed in liver, pancreas, kidney and intestine. Mice lacking HNF1alpha are born normally but suffer from several defects including hyperphenylalaninemia, defective bile acid and cholesterol metabolism, an insulin secretion defect and renal Fanconi syndrome.
Claire, Cheret, Antonia, Doyen, Moshe, Yaniv, Marco, Pontoglio   +3 more
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Maturity-Onset Diabetes of the Young Due to a Mutation in the Hepatocyte Nuclear Factor-4α Binding Site in the Promoter of the Hepatocyte Nuclear Factor-1α Gene

Diabetes, 1997
Recent studies have shown that mutations in the transcription factor hepatocyte nuclear factor (HNF)-1α are the cause of one form of maturity-onset diabetes of the young (MODY3). These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein.
C, Gragnoli, T, Lindner, B N, Cockburn, P J, Kaisaki, F, Gragnoli, G, Marozzi, G I, Bell   +6 more
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Polymorphismen von HNF1alpha (hepatocyte nuclear factor 1 alpha) bei Gallensteinträgern

Zeitschrift für Gastroenterologie, 2010
D Richter, S Harsch, A Strohmeyer, S Schimmel, EF Stange   +4 more
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Engineered human hepatocyte organoids enable CRISPR-based target discovery and drug screening for steatosis

Nature Biotechnology, 2023
Delilah F G Hendriks, Jos F Brouwers
exaly  

913 Familial liver adenomatosis associated with hepatocyte nuclear factor 1 alpha inactivation

Hepatology, 2003
Y BACQ, E JACQUEMIN, C BALABAUD, E JEANNOT, B SCOTTO, S BRANCHEREAU, C LAURENT, P BOURLIER, D PARIENTE, A DEMURET   +9 more
openaire   +1 more source