Zobrazeno 1 - 10
of 21
pro vyhledávání: '"S S Strautnieks"'
Autor:
Anjana Saxena, Aaron Hanukoglu, R. Mark Gardiner, Israel Hanukoglu, Richard J. Thompson, S S Strautnieks
Publikováno v:
Biochemical and Biophysical Research Communications. 252:208-213
ENaC functions in the transport of sodium ions across epithelial cells and consequently regulates blood volume and pressure. ENaC complex includes at least three different subunits, alpha, beta, and gamma, which are developmentally regulated and diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93e0bff425ea7a06565fb52d3b44eec6
https://doi.org/10.1006/bbrc.1998.9625
https://doi.org/10.1006/bbrc.1998.9625
Autor:
Richard J. Thompson, Amir F. Kagalwalla, R. Mark Gardiner, S A Kocoshis, A.S. Knisely, M. Stuart Tanner, Nelson B. Freimer, Laura N. Bull, S S Strautnieks
Publikováno v:
Scopus-Elsevier
SummaryProgressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9c6769325d767363a1b367aa72c1d8d
https://doi.org/10.1086/515501
https://doi.org/10.1086/515501
Autor:
Richard J. Thompson, Eddie M. K. Chung, Ursula Kuhnle, Michael J. Dillon, Aaron Hanukoglu, Israel Hanukoglu, S S Strautnieks, R. Mark Gardiner, Jonathan R. Seckl
Publikováno v:
Human Molecular Genetics. 5:293-299
Pseudohypoaldosteronism type 1 (PHA1, OMIM264350) is a rare Mendelian disorder characterised byend-organ unresponsiveness to mineralocorticoids.Most steroid hormone insensitivity syndromes arisefrom mutations in the corresponding receptor, butavailab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f3e5cfeb6d4bc8c324af95431cde99
https://doi.org/10.1093/hmg/5.2.293
https://doi.org/10.1093/hmg/5.2.293
Autor:
S. S. Strautnieks, J. A. Byrne, L. Pawlikowska, G. Mieli-Vergani, A. S. Knisely, L. N. Bull, R. J. Thompson
Publikováno v:
Bile Acid Biology and Therapeutic Actions ISBN: 9781402096433
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c0d9e8aa045c09a52fc6cf0692dec69
https://doi.org/10.1007/978-1-4020-9644-0_28
https://doi.org/10.1007/978-1-4020-9644-0_28
Autor:
A.S. Knisely, Etienne Sokal, Joanna Pawłowska, M. S. Tanner, Ling, Niklas Dahl, Nelson B. Freimer, Amir F. Kagalwalla, R M Gardiner, Giorgina Mieli-Vergani, Richard J. Thompson, Amie Baker, Sarah J. Childs, S A Kocoshis, S S Strautnieks, Antal Nemeth, Laura N. Bull, H Arnell, Karin Dahan
Publikováno v:
Nature genetics. 20(3)
The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) leve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8b32d4618df3a70dd4862e702d2501
https://pubmed.ncbi.nlm.nih.gov/9806540
https://pubmed.ncbi.nlm.nih.gov/9806540
Publikováno v:
Scopus-Elsevier
Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c182b384b4e906cb39ec7d0a9111f7
https://pubmed.ncbi.nlm.nih.gov/8933336
https://pubmed.ncbi.nlm.nih.gov/8933336
Publikováno v:
Nature genetics. 13(2)
Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids. A complete genome search using homozygosity mapping in eleven consanguineous fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9358ce56aaa962a926de32d07f32a751
https://pubmed.ncbi.nlm.nih.gov/8640238
https://pubmed.ncbi.nlm.nih.gov/8640238
Autor:
Anne Rayner, Etienne Sokal, A.S. Knisely, Peter F. Whitington, Hussa F. Al-Hussaini, Milan Jirsa, Bruno Stieger, Anthony Antoniou, Joanna Cielecka-Kuszyk, J A Byrne, Joanna Pawłowska, Henkjan J. Verkade, Ludmila Pawlikowska, Yvonne Meier, S S Strautnieks, Björn Fischler, Patricia McClean, Henrik Arnell, Benjamin L. Shneider, Richard J. Thompson, Figen Özçay, Sami Wali, Laura Dutton, Dita Cebecauerova, Radana Kotalova, Atif F. Bassas, Giorgina Mieli-Vergani, Laura N. Bull, Irena Jankowska, Antal Nemeth
Publikováno v:
Gastroenterology, 134(4), 1203-1214. W B SAUNDERS CO-ELSEVIER INC
Background & Aims: Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656ea632c3ca9299920db1d35eb46297
https://doi.org/10.1053/j.gastro.2008.01.038
https://doi.org/10.1053/j.gastro.2008.01.038
Autor:
J A Byrne, S S Strautnieks, Ludmila Pawlikowska, Anthony Antoniou, Laura N. Bull, Julie C. Vargas, A Bassas, C Hartman, Amir F. Kagalwalla, H Hebby
Publikováno v:
Hepatology. 38:584-584
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90750599a3c8dd07b66de12b7180d27b
https://doi.org/10.1016/s0270-9139(03)80923-0
https://doi.org/10.1016/s0270-9139(03)80923-0
Autor:
Billy Bourke, J A Byrne, S S Strautnieks, Sami Wali, S Blanchard, Anthony Antoniou, Piotr Czubkowski, Steven J. Lobritto, Inge-Merete Nielsen, Ludmila Pawlikowska
Publikováno v:
Hepatology. 38:483-483
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1317c4562d5238dec27e75f0e02044f1
https://doi.org/10.1016/s0270-9139(03)80711-5
https://doi.org/10.1016/s0270-9139(03)80711-5