Results 211 to 220 of about 42,925 (253)

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
exaly   +4 more sources

Hepatic expression of cytochrome P450s in hepatocyte nuclear factor 1-alpha (HNF1α)-deficient mice

Biochemical Pharmacology, 2003
Hepatocyte nuclear factor 1 alpha (HNF1alpha) is a liver enriched homeodomain-containing transcription factor that has been shown to transactivate the promoters of several cytochrome P450 (CYP) genes, including CYP2E1, CYP1A2, CYP7A1, and CYP27, in vitro.
Frank J Gonzalez, Taro E Akiyama, Connie Cheung   +2 more
exaly   +3 more sources

Polymorphismen von HNF1alpha (hepatocyte nuclear factor 1 alpha) bei Gallensteinträgern

Zeitschrift für Gastroenterologie, 2011
Eine Ursache der Gallensteinentstehung kann auf genetische Dispositionen zuruckgefuhrt werden. Der ileale Gallensauretransporter ASBT (apical sodium-dependent bile acid transporter) ist bei Gallensteintragerinnen signifikant erniedrigt (Bergheim, J. Lipid Res. 2006) und zeigt eine genetische Assoziation (Renner, PLoS ONE, 2009) zu Cholelithiasis.
D Richter, S Harsch, S Hirobe-Jahn, A Strohmeyer, S Schimmel, EF Stange   +5 more
openaire   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

The Human Organic Anion Transporter Genes OAT5 and OAT7 Are Transactivated by Hepatocyte Nuclear Factor-1{alpha} (HNF-1{alpha})

2010
Organic anion transporters (OATs) are anion exchangers that transport small hydrophilic anions and diuretics, antibiotics, nonsteroidal anti-inflammatory drugs, antiviral nucleoside analogs, and antitumor drugs across membrane barriers of epithelia of diverse organs. Three OATs are present in human liver: OAT2, OAT5, and OAT7.
Klein, K, Jungst, C, Mwinyi, J, Stieger, B, Krempler, F, Patsch, W, Eloranta, J J, Kullak-Ublick, G A   +7 more
openaire   +1 more source

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Human Mutation, 2013
Maturity-onset diabetes of the young (MODY) is a monogenic disorder characterized by autosomal dominant inheritance of young-onset (typically
Colclough, K., Bellanne-Chantelot, C., Saint-Martin, C., Flanagan, Sarah, Ellard, Sian   +4 more
openaire   +3 more sources

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
openaire   +1 more source