Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 49

2.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C.

Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027.

PMID:
27426735
3.

Liver transplantation and the management of progressive familial intrahepatic cholestasis in children.

Mehl A, Bohorquez H, Serrano MS, Galliano G, Reichman TW.

World J Transplant. 2016 Jun 24;6(2):278-90. doi: 10.5500/wjt.v6.i2.278. Review.

4.

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.

Park JS, Ko JS, Seo JK, Moon JS, Park SS.

World J Gastroenterol. 2016 May 28;22(20):4901-7. doi: 10.3748/wjg.v22.i20.4901.

5.

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.

Dröge C, Schaal H, Engelmann G, Wenning D, Häussinger D, Kubitz R.

Sci Rep. 2016 Apr 26;6:24827. doi: 10.1038/srep24827.

6.

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL, Li LT, Wu BB, Gong JY, Abuduxikuer K, Li G, Wang JS.

PLoS One. 2016 Apr 6;11(4):e0153114. doi: 10.1371/journal.pone.0153114.

7.

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.

PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021.

8.

Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.

Goldschmidt ML, Mourya R, Connor J, Dexheimer P, Karns R, Miethke A, Sheridan R, Zhang K, Bezerra JA.

Hepatol Res. 2016 Apr;46(4):306-11. doi: 10.1111/hepr.12545.

9.

Progressive familial intrahepatic cholestasis.

Srivastava A.

J Clin Exp Hepatol. 2014 Mar;4(1):25-36. doi: 10.1016/j.jceh.2013.10.005. Review.

10.

FXR and liver carcinogenesis.

Huang XF, Zhao WY, Huang WD.

Acta Pharmacol Sin. 2015 Jan;36(1):37-43. doi: 10.1038/aps.2014.117. Review.

11.

Bile acid pool dynamics in progressive familial intrahepatic cholestasis with partial external bile diversion.

Jericho HS, Kaurs E, Boverhof R, Knisely A, Shneider BL, Verkade HJ, Whitington PF.

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):368-74. doi: 10.1097/MPG.0000000000000630.

12.

Pharmacological correction of misfolding of ABC proteins.

Rudashevskaya EL, Stockner T, Trauner M, Freissmuth M, Chiba P.

Drug Discov Today Technol. 2014 Jun;12:e87-94. doi: 10.1016/j.ddtec.2014.03.009. Review.

13.

Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.

Hasegawa Y, Hayashi H, Naoi S, Kondou H, Bessho K, Igarashi K, Hanada K, Nakao K, Kimura T, Konishi A, Nagasaka H, Miyoshi Y, Ozono K, Kusuhara H.

Orphanet J Rare Dis. 2014 Jul 15;9:89. doi: 10.1186/1750-1172-9-89.

14.

Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice.

Tibesar E, Karwowski C, Hertel P, Scheimann A, Karnsakul W.

Case Rep Pediatr. 2014;2014:185923. doi: 10.1155/2014/185923.

15.

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.

Hu G, He P, Liu Z, Chen Q, Zheng B, Zhang Q.

Mol Med Rep. 2014 Sep;10(3):1264-74. doi: 10.3892/mmr.2014.2349.

16.

HELLP syndrome preceded by intrahepatic cholestasis of pregnancy: one serious itch.

Jebbink J, Tabbers M, Afink G, Beuers U, Elferink RO, Ris-Stalpers C, van der Post J.

BMJ Case Rep. 2014 Apr 7;2014. pii: bcr2013203208. doi: 10.1136/bcr-2013-203208.

17.

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

McKay KE, Bruce CK, Hartley JL, Knisely AS, Baumann U, Bockisch SS, Sturm E, Hendriksz CJ, Kelly DA, Macdonald F, Gissen P.

Version 2. F1000Res. 2013 Feb 6 [revised 2013 Jan 1];2:32. doi: 10.12688/f1000research.2-32.v2.

18.

Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma.

Borad MJ, Champion MD, Egan JB, Liang WS, Fonseca R, Bryce AH, McCullough AE, Barrett MT, Hunt K, Patel MD, Young SW, Collins JM, Silva AC, Condjella RM, Block M, McWilliams RR, Lazaridis KN, Klee EW, Bible KC, Harris P, Oliver GR, Bhavsar JD, Nair AA, Middha S, Asmann Y, Kocher JP, Schahl K, Kipp BR, Barr Fritcher EG, Baker A, Aldrich J, Kurdoglu A, Izatt T, Christoforides A, Cherni I, Nasser S, Reiman R, Phillips L, McDonald J, Adkins J, Mastrian SD, Placek P, Watanabe AT, Lobello J, Han H, Von Hoff D, Craig DW, Stewart AK, Carpten JD.

PLoS Genet. 2014 Feb 13;10(2):e1004135. doi: 10.1371/journal.pgen.1004135.

19.

Evaluation of the endothelin receptor antagonists ambrisentan, bosentan, macitentan, and sitaxsentan as hepatobiliary transporter inhibitors and substrates in sandwich-cultured human hepatocytes.

Lepist EI, Gillies H, Smith W, Hao J, Hubert C, St Claire RL 3rd, Brouwer KR, Ray AS.

PLoS One. 2014 Jan 30;9(1):e87548. doi: 10.1371/journal.pone.0087548.

Items per page

Supplemental Content

Support Center