Shneider BL - Search Results

1

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Carlton VE, et al. Among authors: shneider bl. Nat Genet. 2003 May;34(1):91-6. doi: 10.1038/ng1147. Nat Genet. 2003. PMID: 12704386

2

Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol.

Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Morton DH, et al. Gastroenterology. 2000 Jul;119(1):188-95. doi: 10.1053/gast.2000.8547. Gastroenterology. 2000. PMID: 10889168

3

Hypercholesterolemia and changes in lipid and bile acid metabolism in male and female cyp7A1-deficient mice.

Erickson SK, Lear SR, Deane S, Dubrac S, Huling SL, Nguyen L, Bollineni JS, Shefer S, Hyogo H, Cohen DE, Shneider B, Sehayek E, Ananthanarayanan M, Balasubramaniyan N, Suchy FJ, Batta AK, Salen G. Erickson SK, et al. J Lipid Res. 2003 May;44(5):1001-9. doi: 10.1194/jlr.M200489-JLR200. Epub 2003 Feb 16. J Lipid Res. 2003. PMID: 12588950 Free article.

4

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. Among authors: shneider bl. Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713. Nat Commun. 2016. PMID: 26888176 Free PMC article.

5

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Pawlikowska L, et al. J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13. J Hepatol. 2010. PMID: 20447715 Free PMC article.

6

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.

Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL. Chen F, et al. Among authors: shneider bl. Gastroenterology. 2004 Mar;126(3):756-64. doi: 10.1053/j.gastro.2003.12.013. Gastroenterology. 2004. PMID: 14988830

7

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Strautnieks SS, et al. Among authors: shneider bl. Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18. Gastroenterology. 2008. PMID: 18395098 Free article.

8

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN). Hertel PM, et al. Among authors: shneider bl. J Pediatr Gastroenterol Nutr. 2021 Aug 1;73(2):169-177. doi: 10.1097/MPG.0000000000003153. J Pediatr Gastroenterol Nutr. 2021. PMID: 34016879 Free PMC article.

9

Ileal bile acid transport regulates bile acid pool, synthesis, and plasma cholesterol levels differently in cholesterol-fed rats and rabbits.

Xu G, Shneider BL, Shefer S, Nguyen LB, Batta AK, Tint GS, Arrese M, Thevananther S, Ma L, Stengelin S, Kramer W, Greenblatt D, Pcolinsky M, Salen G. Xu G, et al. Among authors: shneider bl. J Lipid Res. 2000 Feb;41(2):298-304. J Lipid Res. 2000. PMID: 10681414 Free article.

10

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. Jericho HS, et al. Among authors: shneider bl. J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):368-74. doi: 10.1097/MPG.0000000000000630. J Pediatr Gastroenterol Nutr. 2015. PMID: 25383786 Free PMC article.

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