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Expanding etiology of progressive familial intrahepatic cholestasis.
Henkel SA, Squires JH, Ayers M, Ganoza A, Mckiernan P, Squires JE. Henkel SA, et al. World J Hepatol. 2019 May 27;11(5):450-463. doi: 10.4254/wjh.v11.i5.450. World J Hepatol. 2019. PMID: 31183005 Free PMC article.
The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease. ...RESULTS: Genetic-based liver disease resulting in the inability to …
The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice …
Effects of Polymorphisms in NR1H4, NR1I2, SLCO1B1, and ABCG2 on the Pharmacokinetics of Rosuvastatin in Healthy Chinese Volunteers.
Liu M, Wu XJ, Zhao GL, Zhang T, Xu SS, Sun YX, Qiu F, Zhao LM. Liu M, et al. J Cardiovasc Pharmacol. 2016 Nov;68(5):383-390. doi: 10.1097/FJC.0000000000000426. J Cardiovasc Pharmacol. 2016. PMID: 27557342
The nuclear receptors (NR)-farnesoid X receptor (FXR, NR1H4) and pregnane X receptor (PXR, NR1I2)-have important effects on the expression of genes related to the pharmacokinetics (PKs) of rosuvastatin. ...Polymorphisms investigated in the genes of NR1H4 and NR1I2 s …
The nuclear receptors (NR)-farnesoid X receptor (FXR, NR1H4) and pregnane X receptor (PXR, NR1I2)-have important effects on the expre …
Genetic variation in NR1H4 encoding the bile acid receptor FXR determines fasting glucose and free fatty acid levels in humans.
Heni M, Wagner R, Ketterer C, Böhm A, Linder K, Machicao F, Machann J, Schick F, Hennige AM, Stefan N, Häring HU, Fritsche A, Staiger H. Heni M, et al. J Clin Endocrinol Metab. 2013 Jul;98(7):E1224-9. doi: 10.1210/jc.2013-1177. Epub 2013 May 2. J Clin Endocrinol Metab. 2013. PMID: 23640969
OBJECTIVE: To understand the role of FXR in human metabolism, we investigated associations of common single-nucleotide polymorphisms (SNPs) in the FXR-encoding gene NR1H4 with glucose and lipid metabolism, body fat mass, and liver fat content. ...In subgroups, hyper …
OBJECTIVE: To understand the role of FXR in human metabolism, we investigated associations of common single-nucleotide polymorphisms (SNPs) …
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Gomez-Ospina N, et al. Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713. Nat Commun. 2016. PMID: 26888176 Free PMC article.
Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein …
Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver
Perinatal Hypercholesterolemia Exacerbates Atherosclerosis Lesions in Offspring by Altering Metabolism of Trimethylamine-N-Oxide and Bile Acids.
Trenteseaux C, Gaston AT, Aguesse A, Poupeau G, de Coppet P, Andriantsitohaina R, Laschet J, Amarger V, Krempf M, Nobecourt-Dupuy E, Ouguerram K. Trenteseaux C, et al. Arterioscler Thromb Vasc Biol. 2017 Nov;37(11):2053-2063. doi: 10.1161/ATVBAHA.117.309923. Epub 2017 Sep 21. Arterioscler Thromb Vasc Biol. 2017. PMID: 28935756
APPROACH AND RESULTS: Atherosclerosis and related parameters were studied in adult male or female apolipoprotein E-deficient mice offspring from either normocholesterolemic or hypercholesterolemic mothers and normocholesterolemic fathers. ...At 18 weeks of age, female born …
APPROACH AND RESULTS: Atherosclerosis and related parameters were studied in adult male or female apolipoprotein E-deficient mice off …
Expression profiling of Nme7 interactome in experimental models of metabolic syndrome.
Šedová L, Školníková E, Hodúlová M, Včelák J, Šeda O, Bendlová B. Šedová L, et al. Physiol Res. 2018 Nov 28;67(Suppl 3):S543-S550. doi: 10.33549/physiolres.934021. Physiol Res. 2018. PMID: 30484681 Free article.
We assessed the liver transcriptome by Affymetrix microarrays in adult males of 14 PXO recombinant inbred rat strains and their two progenitor strains, SHR-Lx and BXH2. ...In the subsequent network analysis, we have identified three major upstream regulators - Hnf4a …
We assessed the liver transcriptome by Affymetrix microarrays in adult males of 14 PXO recombinant inbred rat strains and thei …
Promoter DNA methylation of farnesoid X receptor and pregnane X receptor modulates the intrahepatic cholestasis of pregnancy phenotype.
Cabrerizo R, Castaño GO, Burgueño AL, Fernández Gianotti T, Gonzalez Lopez Ledesma MM, Flichman D, Pirola CJ, Sookoian S. Cabrerizo R, et al. PLoS One. 2014 Jan 31;9(1):e87697. doi: 10.1371/journal.pone.0087697. eCollection 2014. PLoS One. 2014. PMID: 24498169 Free PMC article. Clinical Trial.
The intrahepatic cholestasis of pregnancy (ICP) is a multifactorial liver disorder which pathogenesis involves the interplay among abnormal bile acid (BA) levels, sex hormones, environmental factors, and genetic susceptibility. ...In conclusion, the identification of epige …
The intrahepatic cholestasis of pregnancy (ICP) is a multifactorial liver disorder which pathogenesis involves the interplay among ab …
Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies.
Nishimura M, Naito S, Yokoi T. Nishimura M, et al. Drug Metab Pharmacokinet. 2004 Apr;19(2):135-49. doi: 10.2133/dmpk.19.135. Drug Metab Pharmacokinet. 2004. PMID: 15499180 Free article.
NR1H4, 2A1, and 3C3 mRNAs were not detectable in the heart, heart, and liver, respectively. NR5A2 mRNA was not detectable in either the brain or cerebellum. ...NR1I3 mRNA was detected in the liver, kidney, stomach, small intestine, adrenal gland, lung, brain,
NR1H4, 2A1, and 3C3 mRNAs were not detectable in the heart, heart, and liver, respectively. NR5A2 mRNA was not detectable in e
Exposure to the synthetic FXR agonist GW4064 causes alterations in gene expression and sublethal hepatotoxicity in eleutheroembryo medaka (Oryzias latipes).
Howarth DL, Law SH, Law JM, Mondon JA, Kullman SW, Hinton DE. Howarth DL, et al. Toxicol Appl Pharmacol. 2010 Feb 15;243(1):111-21. doi: 10.1016/j.taap.2009.11.022. Epub 2009 Dec 3. Toxicol Appl Pharmacol. 2010. PMID: 19963001 Free PMC article.
Here we investigate critical liver function and toxicity by examining the in vivo role and function of the farnesoid X receptor alpha (FXRalpha, NR1H4), a member of the nuclear receptor superfamily that plays an essential role in the regulation of bile acid homeosta …
Here we investigate critical liver function and toxicity by examining the in vivo role and function of the farnesoid X receptor alpha …
Polymorphisms in the organic anion transporting polypeptide genes influence liver parenchymal enhancement in gadoxetic acid-enhanced MRI.
Okubo H, Ando H, Kokubu S, Miyazaki A, Watanabe S, Fujimura A. Okubo H, et al. Pharmacogenomics. 2013 Oct;14(13):1573-82. doi: 10.2217/pgs.13.132. Pharmacogenomics. 2013. PMID: 24088128
PATIENTS&METHODS: We analyzed the genotypes of SLCO1B1 388A>G, SLCO1B1 521T>C, SLCO1B3 334T>G and NR1H4 -1G>T and calculated the mean quantitative liver-spleen contrast ratio, as an index of liver parenchymal enhancement, in 226 patients with …
PATIENTS&METHODS: We analyzed the genotypes of SLCO1B1 388A>G, SLCO1B1 521T>C, SLCO1B3 334T>G and NR1H4 -1G>T and cal …
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