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Page 1
A time- and space-resolved nuclear receptor atlas in mouse liver.
Zummo FP, Berthier A, Gheeraert C, Vinod M, Bobowski-Gérard M, Molendi-Coste O, Pineau L, Jung M, Guille L, Dubois-Chevalier J, Dombrowicz D, Staels B, Eeckhoute J, Lefebvre P. Zummo FP, et al. J Mol Endocrinol. 2023 May 18;71(1):e230017. doi: 10.1530/JME-23-0017. Print 2023 Jul 1. J Mol Endocrinol. 2023. PMID: 36988391
The functional versatility of the liver is paramount for organismal homeostasis. Adult liver functions are controlled by a tightly regulated transcription factor network including nuclear receptors (NRs), which orchestrate many aspects of hepatic physiology. …
The functional versatility of the liver is paramount for organismal homeostasis. Adult liver functions are controlled b …
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 …
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G, Mattiaccio A, Conti A, Turco L, Seri M, Piscaglia F, Morelli MC. Vitale G, et al. Cancers (Basel). 2022 Jul 14;14(14):3421. doi: 10.3390/cancers14143421. Cancers (Basel). 2022. PMID: 35884482 Free PMC article. Review.
Moreover, mutations in these genes, even in the heterozygous status, may be responsible for cryptogenic cholestasis in both young and adults. Mutations in FIC genes can influence serum and hepatic levels of bile acids. Experimental studies on the NR1H4 gene have sho …
Moreover, mutations in these genes, even in the heterozygous status, may be responsible for cryptogenic cholestasis in both young and adu …
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. DESIGN: We genotyped 2 …
OBJECTIVE: To understand the role of FXR in human metabolism, we investigated associations of common single-nucleotide polymorphisms (SNPs) …
The role of the farnesoid X receptor in kidney health and disease: a potential therapeutic target in kidney diseases.
Kim DH, Park JS, Choi HI, Kim CS, Bae EH, Ma SK, Kim SW. Kim DH, et al. Exp Mol Med. 2023 Feb;55(2):304-312. doi: 10.1038/s12276-023-00932-2. Epub 2023 Feb 3. Exp Mol Med. 2023. PMID: 36737665 Free PMC article. Review.
A deep understanding of the mechanisms underlying the physiological regulation of the kidney and the pathogenesis of related diseases can help identify potential therapeutic targets. The farnesoid X receptor (FXR, NR1H4) is a primary nuclear bile acid receptor that transcr …
A deep understanding of the mechanisms underlying the physiological regulation of the kidney and the pathogenesis of related diseases can he …
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pietrobattista A, Spada M, Candusso M, Boenzi S, Dionisi-Vici C, Francalanci P, Morrone A, Ferri L, Indolfi G, Agolini E, Giordano G, Monti L, Maggiore G, Knisely AS. Pietrobattista A, et al. Pediatr Transplant. 2022 Sep;26(6):e14318. doi: 10.1111/petr.14318. Epub 2022 May 28. Pediatr Transplant. 2022. PMID: 35633129
An extensive diagnostic work-up, including liver biopsy, identified no etiology. Rapid progression to end-stage liver disease required LT aged 5mo. ...Both severe ABCB11 disease and NR1H4 disease-NR1H4 encodes farsenoid-X receptor, necessary for ABCB11 …
An extensive diagnostic work-up, including liver biopsy, identified no etiology. Rapid progression to end-stage liver disease …
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. AIM: To review current data on defects in bile acid homeostasis, explore the …
The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice …
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.
As obesity and diabetes are common in several ciliopathies, we aimed to analyze changes of gene expression within Nme7 interactome in genetically designed rat models of metabolic syndrome. We assessed the liver transcriptome by Affymetrix microarrays in adult males …
As obesity and diabetes are common in several ciliopathies, we aimed to analyze changes of gene expression within Nme7 interactome in geneti …
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 …
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.
Conversely, methylation level at the proximal FXR/NR1H4-358 CpG site was significantly and negatively correlated with the primary cholic and secondary deoxycholic acid. In vitro exploration showed that epiallopregnanolone sulfate, a reported FXR inhibitor, regulates the tr …
Conversely, methylation level at the proximal FXR/NR1H4-358 CpG site was significantly and negatively correlated with the primary cho …
18 results