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Genomes and Genes
| intrahepatic cholestasisSummarySummary: Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). Top Publications
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Publications
- Zecca E, De Luca D, Marras M, Caruso A, Bernardini T, Romagnoli C. Intrahepatic cholestasis of pregnancy and neonatal respiratory distress syndrome. Pediatrics. 2006;117:1669-72 pubmedWe sought to verify the association between maternal intrahepatic cholestasis of pregnancy (ICP) and neonatal respiratory distress syndrome (RDS) and to determine how bile acids levels alter the risk of developing neonatal RDS.
- Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, et al. Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther. 2006;23:1649-53 pubmedThe aetiology of intrahepatic cholestasis of pregnancy is unknown, but more than 10 different MDR3 gene mutations have recently been identified.
- Fu H, Zhang S, Yu H, Wang X, Zhu Q, Wang J. Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. World J Gastroenterol. 2010;16:2278-82 pubmed..To establish the real time fluorescence polymerase chain reaction (RT-PCR) with dual labeled probes for fast detection of SLC25A13 gene mutation 851del4...
- Keitel V, Vogt C, Haussinger D, Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology. 2006;131:624-9 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder that usually develops in the third trimester of pregnancy and persists until delivery...
- Liu L, Wang Z, Wang X, Zhu Q, Wang J. ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. Liver Int. 2010;30:809-15 pubmed publisherProgressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe autosomal recessive liver disorder of childhood that can cause cholestasis and progress to end-stage liver disease...
- Mays J. The active management of intrahepatic cholestasis of pregnancy. Curr Opin Obstet Gynecol. 2010;22:100-3 pubmed publisherTo review the literature regarding the active management of intrahepatic cholestasis of pregnancy.
- Scheimann A, Strautnieks S, Knisely A, Byrne J, Thompson R, Finegold M. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr. 2007;150:556-9 pubmedFatal peripheral cholangiocarcinoma developed in 2 girls with progressive familial intrahepatic cholestasis, ABCB11 mutations, and absent bile salt export pump (BSEP) expression...
- Folmer D, van der Mark V, Ho Mok K, Oude Elferink R, Paulusma C. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology. 2009;50:1597-605 pubmed publisherMutations in ATP8B1 cause progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1), forming a spectrum of cholestatic disease...
- Davit Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology. 2010;51:1645-55 pubmed publisherProgressive familial intrahepatic cholestasis (PFIC) types 1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11 (encoding bile salt export pump [..
- Lam P, Pearson C, Soroka C, Xu S, Mennone A, Boyer J. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol. 2007;293:C1709-16 pubmed..are the molecular basis for at least three clinical forms of liver disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), and intrahepatic cholestasis of ..
- Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, et al. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Am J Physiol Gastrointest Liver Physiol. 2008;294:G58-67 pubmedProgressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP, ABCB11) gene; however, their prognosis differs...
- Binder T, Salaj P, Zima T, Vitek L. Randomized prospective comparative study of ursodeoxycholic acid and S-adenosyl-L-methionine in the treatment of intrahepatic cholestasis of pregnancy. J Perinat Med. 2006;34:383-91 pubmedTo compare the efficacy of the ursodeoxycholic acid (UDCA) and S-adenosyl-L-methionine (SAMe) monotherapy with their combined effect on intrahepatic cholestasis of pregnancy (ICP).
- Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely A, Sornmayura P, et al. Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World J Gastroenterol. 2009;15:4339-42 pubmedProgressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP)...
- Oztekin D, Aydal I, Oztekin O, Okcu S, Borekci R, Tinar S. Predicting fetal asphyxia in intrahepatic cholestasis of pregnancy. Arch Gynecol Obstet. 2009;280:975-9 pubmed publisherb>Intrahepatic cholestasis of pregnancy (ICP) is a disease associated with high-perinatal morbidity and mortality rates. It is important to have parameters that aid in predicting fetal outcomes...
- Reyes H, Zapata R, Hernandez I, Gotteland M, Sandoval L, Jirón M, et al. Is a leaky gut involved in the pathogenesis of intrahepatic cholestasis of pregnancy?. Hepatology. 2006;43:715-22 pubmed..levels of anti-lipopolysacharides (anti-LPS), and four proinflammatory cytokines in 20 patients with intrahepatic cholestasis of pregnancy (ICP) compared with 22 normal pregnant and 29 non-pregnant women...
- Bezerra J, Shneider B. Genetic modifiers of cholestatic liver disease: an evolving field. J Pediatr Gastroenterol Nutr. 2006;42:7-8 pubmed
- Stapelbroek J, van Erpecum K, Klomp L, Venneman N, Schwartz T, van Berge Henegouwen G, et al. Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology. 2006;43:51-3 pubmedBenign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. Effective medical treatment is not available...
- Delaunay J, Durand Schneider A, Delautier D, Rada A, Gautherot J, Jacquemin E, et al. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology. 2009;49:1218-27 pubmed publisherProgressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease characterized by early onset of cholestasis that leads to cirrhosis and liver failure before adulthood...
- Wikström Shemer E, Marschall H. Decreased 1,25-dihydroxy vitamin D levels in women with intrahepatic cholestasis of pregnancy. Acta Obstet Gynecol Scand. 2010;89:1420-3 pubmed publisherThe pathogenesis of intrahepatic cholestasis of pregnancy (ICP) involves impaired bile acid and estrogen/progesterone metabolism and excretion based on genetic and environmental factors. The role of vitamin D is undefined.
- Xu Z, Ke J, Xing A. [Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy]. Sichuan Da Xue Xue Bao Yi Xue Ban. 2008;39:430-3 pubmedBy detecting the expression of placental familial intrahepatic cholestasis 1 (FIC1) and levels of total bile acids (TBA) and cholylglycine (CG) in maternal and umbilical cord serum, the effect of placental bile salt transporter on fetal ..
- Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier Rotival M, et al. Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007;44:453-8 pubmedProgressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end-stage liver disease during childhood...
- Song Y, Li B, Chen F, Liu S, Sheng J, Ushikai M, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. Dig Liver Dis. 2009;41:683-9 pubmed publisherNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel inborn error of metabolism due to dysfunction of citrin protein, and much more information about this new disease is still needed for its clinical management.
- Ko J, Song J, Park S, Seo J. Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J Korean Med Sci. 2007;22:952-6 pubmed..encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)...
- Schneider G, Paus T, Kullak Ublick G, Meier P, Wienker T, Lang T, et al. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology. 2007;45:150-8 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is defined as pruritus and elevated bile acid serum concentrations in late pregnancy...
- Sakurai A, Kurata A, Onishi Y, Hirano H, Ishikawa T. Prediction of drug-induced intrahepatic cholestasis: in vitro screening and QSAR analysis of drugs inhibiting the human bile salt export pump. Expert Opin Drug Saf. 2007;6:71-86 pubmedDrug-induced intrahepatic cholestasis is one of the major causes of hepatotoxicity, which often occur during the drug discovery and development process...
- Costa D, Miksad R, Buff M, Wang Y, Dezube B. Case of fatal sickle cell intrahepatic cholestasis despite use of exchange transfusion in an African-American patient. J Natl Med Assoc. 2006;98:1183-7 pubmedSickle cell intrahepatic cholestasis (SCIC) is a rare complication of sickle cell anemia, characterized by marked hyperbilirubinemia and acute hepatic failure with an often fatal course...
- Castano G, Lucangioli S, Sookoian S, Mesquida M, Lemberg A, Di Scala M, et al. Bile acid profiles by capillary electrophoresis in intrahepatic cholestasis of pregnancy. Clin Sci (Lond). 2006;110:459-65 pubmedICP (intrahepatic cholestasis of pregnancy) is characterized by pruritus and biochemical cholestasis, including raised SBAs (serum bile acids) and, usually, elevated aminotransferases levels...
- Cui T, Liu Y, Men X, Xu Z, Wu L, Liu S, et al. Bile acid transport correlative protein mRNA expression profile in human placenta with intrahepatic cholestasis of pregnancy. Saudi Med J. 2009;30:1406-10 pubmedTo analyze the expression of bile acid transport correlative proteins in the placenta of patients with intrahepatic cholestasis of pregnancy (ICP).
- Castano G, Burgueno A, Fernandez Gianotti T, Pirola C, Sookoian S. The influence of common gene variants of the xenobiotic receptor (PXR) in genetic susceptibility to intrahepatic cholestasis of pregnancy. Aliment Pharmacol Ther. 2010;31:583-92 pubmed publisher..Aim To estimate the contribution of common gene variants of the xenobiotic receptor (pregnane X receptor, PXR) to genetic susceptibility to intrahepatic cholestasis of pregnancy.
- Corbani A, Burroughs A. Intrahepatic cholestasis after liver transplantation. Clin Liver Dis. 2008;12:111-29, ix pubmed publisher..Late causes include hepatic artery thrombosis, chronic rejection, biliary complications, recurrent viral and cholestatic disease, and posttransplant lymphoproliferative disorder...
- Xing Y, Qiu W, Ye J, Han L, Xu S, Zhang H, et al. [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:180-5 pubmed publisherTo investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease.
- Lucangioli S, Castano G, Contin M, Tripodi V. Lithocholic acid as a biomarker of intrahepatic cholestasis of pregnancy during ursodeoxycholic acid treatment. Ann Clin Biochem. 2009;46:44-9 pubmed publisherThe diagnosis and treatment of intrahepatic cholestasis of pregnancy (ICP) has important implications on fetal health...
- Takaya J, Kobayashi K, Ohashi A, Ushikai M, Tabata A, Fujimoto S, et al. Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. Metabolism. 2005;54:1615-9 pubmed..to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis. Neonatal intrahepatic cholestasis is a self-limiting condition and spontaneously disappears by 12 months ..
- Ziol M, Barbu V, Rosmorduc O, Frassati Biaggi A, Barget N, Hermelin B, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology. 2008;135:131-41 pubmed publisher..We aimed to investigate ABCB4 mutations in adult patients with unexplained anicteric cholestasis and to describe liver injury associated with ABCB4 mutations...
- Strautnieks S, Byrne J, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008;134:1203-14 pubmed publisher..We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy...
- Wang L, Dong H, Soroka C, Wei N, Boyer J, Hochstrasser M. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II. Hepatology. 2008;48:1558-69 pubmed publisher..impair its targeting and transport function, contributing to the pathogenesis of progressive familial intrahepatic cholestasis type II (PFIC II)...
- Ropponen A, Sund R, Riikonen S, Ylikorkala O, Aittomaki K. Intrahepatic cholestasis of pregnancy as an indicator of liver and biliary diseases: a population-based study. Hepatology. 2006;43:723-8 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder, thought to be specific for pregnancy and to spontaneously resolve after delivery...
- Pauli Magnus C, Meier P, Stieger B. Genetic determinants of drug-induced cholestasis and intrahepatic cholestasis of pregnancy. Semin Liver Dis. 2010;30:147-59 pubmed publisherb>Intrahepatic cholestasis of pregnancy and drug-induced cholestasis are two clinically important forms of acquired cholestatic liver disease...
- Arrese M, Reyes H. Intrahepatic cholestasis of pregnancy: a past and present riddle. Ann Hepatol. 2006;5:202-5 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific disorders that occurs mainly in the third trimester of pregnancy and is characterized by pruritus and elevated bile acid levels...
- Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis. 2007;30:139-44 pubmedWe clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long-term outcome of 75 patients...
- Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, et al. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis. 2008;40:366-70 pubmedb>Intrahepatic cholestasis of pregnancy is a multifactorial disorder of pregnancy associated with a genetic background.
- Tribe R, Dann A, Kenyon A, Seed P, Shennan A, Mallet A. Longitudinal profiles of 15 serum bile acids in patients with intrahepatic cholestasis of pregnancy. Am J Gastroenterol. 2010;105:585-95 pubmed publisherIncreased maternal serum bile acids are implicated in intrahepatic cholestasis of pregnancy. Individual bile acid profiles and their relationship with disease progression, however, remain unknown...
- Lee R, Kwok K, Ingles S, Wilson M, Mullin P, Incerpi M, et al. Pregnancy outcomes during an era of aggressive management for intrahepatic cholestasis of pregnancy. Am J Perinatol. 2008;25:341-5 pubmed publisher..whether delivery at 37 weeks of gestation alters adverse pregnancy outcomes in Latina patients with intrahepatic cholestasis of pregnancy (ICP)...
- Chen H, Chen H, Ni Y, Lee N, Chien Y, Hwu W, et al. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. J Pediatr Gastroenterol Nutr. 2008;47:187-92 pubmed publisherTo identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).
- Mizrahi M, Lalazar G, Horwich Y, Adar T, Safadi R. [Benign recurrent intrahepatic cholestasis type-II--a rare cause of direct hyperbilirubinemia exacerbations with hepatic fibrosis]. Harefuah. 2008;147:381-3, 480 pubmed..One of the less common and probably more frequently underdiagnosed causes is benign recurrent intrahepatic cholestasis (BRIC)...
- Lee R, Incerpi M, Miller D, Pathak B, Goodwin T. Sudden fetal death in intrahepatic cholestasis of pregnancy. Obstet Gynecol. 2009;113:528-31 pubmed publisherb>Intrahepatic cholestasis of pregnancy is associated with an increased risk of fetal death. The mechanism of death is unknown.
- Lausman A, Al Yaseen E, Sam D, Nitsch R, Barrett J, Chan W. Intrahepatic cholestasis of pregnancy in women with a multiple pregnancy: an analysis of risks and pregnancy outcomes. J Obstet Gynaecol Can. 2008;30:1008-1013 pubmed publisherThis study was conducted to assess the incidence and perinatal outcomes of multiple pregnancies complicated by intrahepatic cholestasis of pregnancy in an urban population.
- Dixon P, van Mil S, Chambers J, Strautnieks S, Thompson R, Lammert F, et al. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut. 2009;58:537-44 pubmed publisherb>Intrahepatic cholestasis of pregnancy (ICP) has a complex aetiology with a significant genetic component...
- Hoekstra H, Tian Y, Jochum W, Stieger B, Graf R, Porte R, et al. Dearterialization of the liver causes intrahepatic cholestasis due to reduced bile transporter expression. Transplantation. 2008;85:1159-66 pubmed publisher..We aimed to define the involvement of bile secretory dysfunction in the pathogenesis of liver injury after HAT...
- Yang H, Plosch T, Lisman T, Gouw A, Porte R, Verkade H, et al. Inflammation mediated down-regulation of hepatobiliary transporters contributes to intrahepatic cholestasis and liver damage in murine biliary atresia. Pediatr Res. 2009;66:380-5 pubmed publisher..early changes in hepatobiliary transport are mainly related to the inflammatory process and lead to intrahepatic cholestasis and subsequent liver injury, livers from mice with rhesus rotavirus-induced biliary atresia were analyzed ..
- Ambros Rudolph C, Glatz M, Trauner M, Kerl H, Mullegger R. The importance of serum bile acid level analysis and treatment with ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a case series from central Europe. Arch Dermatol. 2007;143:757-62 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is a severely pruritic form of reversible cholestasis that is associated with significant fetal risks...
- Yeh J, Jeng Y, Chen H, Ni Y, Hwu W, Chang M. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr. 2006;148:642-6 pubmedTo explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis.
- Glantz A, Marschall H, Lammert F, Mattsson L. Intrahepatic cholestasis of pregnancy: a randomized controlled trial comparing dexamethasone and ursodeoxycholic acid. Hepatology. 2005;42:1399-405 pubmedb>Intrahepatic cholestasis of pregnancy (ICP) is characterized by troublesome maternal pruritus, elevated serum bile acids (> or =10 micromol/L) and increased fetal risk...