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Items: 1 to 20 of 66

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.

Nat Genet. 2003 May;34(1):91-6.

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.

Gastroenterology. 2000 Jul;119(1):188-95.

PMID:
10889168
3.

Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport.

Pellicoro A, van den Heuvel FA, Geuken M, Moshage H, Jansen PL, Faber KN.

Hepatology. 2007 Feb;45(2):340-8.

PMID:
17256745
4.

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT.

J Inherit Metab Dis. 2012 May;35(3):521-30. doi: 10.1007/s10545-011-9416-3.

PMID:
22089923
5.

Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.

Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN.

Gastroenterology. 2013 May;144(5):945-955.e6; quiz e14-5. doi: 10.1053/j.gastro.2013.02.004.

6.

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A.

Gastroenterology. 2004 Nov;127(5):1386-90. Erratum in: Gastroenterology. 2005 Feb;128(2):524.

PMID:
15521008
7.

Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.

Hadžić N, Bull LN, Clayton PT, Knisely AS.

World J Gastroenterol. 2012 Jul 7;18(25):3322-6. doi: 10.3748/wjg.v18.i25.3322.

8.

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

Nakane T, Biesecker LG.

Am J Med Genet A. 2005 Sep 15;138(1):32-4.

PMID:
16104012
9.

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A.

Sante. 2004 Oct-Dec;14(4):261-6. Review. French.

10.

A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.

Sanjad SA, Hariri A, Habbal ZM, Lifton RP.

Pediatr Nephrol. 2007 Apr;22(4):503-8.

PMID:
17123117
11.

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W.

Am J Hum Genet. 2003 Dec;73(6):1293-301.

12.

A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.

Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB.

Hum Mol Genet. 2004 Apr 15;13(8):881-92.

13.
14.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR.

Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004.

15.

Disruption of the cingulin gene does not prevent tight junction formation but alters gene expression.

Guillemot L, Hammar E, Kaister C, Ritz J, Caille D, Jond L, Bauer C, Meda P, Citi S.

J Cell Sci. 2004 Oct 15;117(Pt 22):5245-56.

16.
17.

Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.

Tougou K, Fukuda T, Ito T, Yamazaki H, Fujio Y, Azuma J.

Drug Metab Pharmacokinet. 2007 Apr;22(2):125-8.

18.

The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine.

O'Byrne J, Hunt MC, Rai DK, Saeki M, Alexson SE.

J Biol Chem. 2003 Sep 5;278(36):34237-44.

19.

Hepatocyte nuclear factor 4alpha is a central regulator of bile acid conjugation.

Inoue Y, Yu AM, Inoue J, Gonzalez FJ.

J Biol Chem. 2004 Jan 23;279(4):2480-9.

20.

Multiple regions of Crumbs3 are required for tight junction formation in MCF10A cells.

Fogg VC, Liu CJ, Margolis B.

J Cell Sci. 2005 Jul 1;118(Pt 13):2859-69.

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