Strautnieks S - Search Results

1

Inherited disorders of transport in the liver.

Thompson R, Strautnieks S. Thompson R, et al. Among authors: strautnieks s. Curr Opin Genet Dev. 2000 Jun;10(3):310-3. doi: 10.1016/s0959-437x(00)00078-2. Curr Opin Genet Dev. 2000. PMID: 10826986 Review.

2

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.

Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. Strautnieks SS, et al. Nat Genet. 1996 Jun;13(2):248-50. doi: 10.1038/ng0696-248. Nat Genet. 1996. PMID: 8640238

3

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.

Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl J, Gardiner RM, Chung E. Strautnieks SS, et al. Hum Mol Genet. 1996 Feb;5(2):293-9. doi: 10.1093/hmg/5.2.293. Hum Mol Genet. 1996. PMID: 8824886

4

Locus heterogeneity in progressive familial intrahepatic cholestasis.

Strautnieks SS, Kagalwalla AF, Tanner MS, Gardiner RM, Thompson RJ. Strautnieks SS, et al. J Med Genet. 1996 Oct;33(10):833-6. doi: 10.1136/jmg.33.10.833. J Med Genet. 1996. PMID: 8933336 Free PMC article.

5

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.

Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501. Am J Hum Genet. 1997. PMID: 9326328 Free PMC article.

6

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034. Nat Genet. 1998. PMID: 9806540

7

Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.

Saxena A, Hanukoglu I, Strautnieks SS, Thompson RJ, Gardiner RM, Hanukoglu A. Saxena A, et al. Among authors: strautnieks ss. Biochem Biophys Res Commun. 1998 Nov 9;252(1):208-13. doi: 10.1006/bbrc.1998.9625. Biochem Biophys Res Commun. 1998. PMID: 9813171

8

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M. Jansen PL, et al. Among authors: strautnieks ss. Gastroenterology. 1999 Dec;117(6):1370-9. doi: 10.1016/s0016-5085(99)70287-8. Gastroenterology. 1999. PMID: 10579978

9

BSEP: function and role in progressive familial intrahepatic cholestasis.

Thompson R, Strautnieks S. Thompson R, et al. Among authors: strautnieks s. Semin Liver Dis. 2001 Nov;21(4):545-50. doi: 10.1055/s-2001-19038. Semin Liver Dis. 2001. PMID: 11745042 Review.

10

The human bile salt export pump: characterization of substrate specificity and identification of inhibitors.

Byrne JA, Strautnieks SS, Mieli-Vergani G, Higgins CF, Linton KJ, Thompson RJ. Byrne JA, et al. Among authors: strautnieks ss. Gastroenterology. 2002 Nov;123(5):1649-58. doi: 10.1053/gast.2002.36591. Gastroenterology. 2002. PMID: 12404239

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