Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Libor Kozak"'
Publikováno v:
The EMBO Journal. 24:2512-2523
The breast cancer tumor suppressor BRCA2-interacting protein, DSS1, and its homologs are critical for DNA recombination in eukaryotic cells. We found that Dss1p, along with Mlo3p and Uap56p, Schizosaccharomyces pombe homologs of two messenger RNA (mR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c17930896ddf280f74bb9e44fe2c34
https://doi.org/10.1038/sj.emboj.7600713
https://doi.org/10.1038/sj.emboj.7600713
Autor:
Éva Oláh, I. Blahakova, Libor Kozak, Gabriella P. Szabó, Andrea Nagy, Anna V. Oláh, Erzsébet Balogh
Publikováno v:
European Journal of Pediatrics. 169:121-123
The Smith–Lemli–Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene. This paper describes a special
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03898a77cef7310ab88326d131efd637
https://doi.org/10.1007/s00431-009-0987-z
https://doi.org/10.1007/s00431-009-0987-z
Publikováno v:
Molecular genetics and metabolism. 86(1-2)
Wilson disease (WD) is an autosomal recessive disorder of copper transport. WD patients are presenting with a wide range of heterogeneous clinical syndromes including hepatic, neurological, or psychiatric presentations. The disease is caused by mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58299d85bb438807cec705a7af6b8114
https://pubmed.ncbi.nlm.nih.gov/15996499
https://pubmed.ncbi.nlm.nih.gov/15996499
Autor:
Anekella Bharathi, Dona C. Love, Libor Kozak, William Whalen, Anjan G. Thakurta, Craig Whiteford, Ravi Dhar, Jin Ho Yoon, John A. Hanover
Publikováno v:
Molecular biology of the cell. 13(8)
The export of mRNA from the nucleus to the cytoplasm involves interactions of proteins with mRNA and the nuclear pore complex. We isolated Crp79p, a novel mRNA export factor from the same synthetic lethal screen that led to the identification of spMe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9355f5b8c83c57fa43cf1e6ca29ed49
https://pubmed.ncbi.nlm.nih.gov/12181330
https://pubmed.ncbi.nlm.nih.gov/12181330
Autor:
Ravi Dhar, Zuben E. Sauna, Suresh V. Ambudkar, Ganesh Gopal, Libor Kozak, Anjan G. Thakurta, Jin Ho Yoon
Publikováno v:
The Journal of biological chemistry. 277(37)
Rae1p and Mex67p/Tap are conserved mRNA export factors. We have used synthetic lethal genetic screens in Schizosaccharomyces pombe to identify mutations in genes that are functionally linked to rae1 and mex67 in mRNA export. From these screens, we ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db2831cdd8e9a98f0e7f7941d9baa97
https://pubmed.ncbi.nlm.nih.gov/12110682
https://pubmed.ncbi.nlm.nih.gov/12110682
Autor:
Libor Kozak, Jaran Apold, Hans Geir Eiken, Elisabeth Svensson, Uta Lichter-Konecki, Petr Cechak, Flemming Güttler, Jadwiga Jaruzelska, Erich Kunert, Jacques Giltay, D. Melle
Publikováno v:
Human genetics. 92(2)
We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Alps. It has a particularly high frequency in the Oslo Fjord region of Norway with the adjacent Bohuslan region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d631dca3884c96ed0454645fbb6a6f
https://pubmed.ncbi.nlm.nih.gov/8370573
https://pubmed.ncbi.nlm.nih.gov/8370573
Autor:
Orna Tighe, Donncha Dunican, Charles O'Neill, Giorgio Bertorelle, Diane Beattie, Colin Graham, Johannes Zschocke, Francesco Cali, Valentino Romano, Eva Hrabincova, Libor Kozak, Marina Nechyporenko, Ludmilla Livshits, Per Guldberg, Monika Jurkowska, Cezary Zekanowski, Belen Perez, Lourdes Ruiz Desviat, Magdalena Ugarte, Vaidutis Ku?inskas
Publikováno v:
Human Mutation; Apr2003, Vol. 21 Issue 4, p387-393, 7p
Autor:
G, Thakurta Anjan, A, Whalen William, Ho, Yoon Jin, Anekella, Bharathi, Libor, Kozak, Craig, Whiteford, C, Love Dona, A, Hanover John, Ravi, Dhar
Publikováno v:
Molecular Biology of the Cell; August 2002, Vol. 13 Issue: 8 p2571-84, 14p
Autor:
K. Filip, Jan Sperl, Pavel Taimr, Jan Petrášek, Milan Jirsa, Libor Kozak, Julius Spicak, Pavel Trunecka
Publikováno v:
ResearcherID
Fulminant Wilson's disease (WD) is almost invariably fatal, and liver transplantation is the only life-saving treatment. Decompensated chronic WD usually responds to chelation therapy. Our aim was to validate 3 published scoring systems for deciding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e03fb639b964abac257af67e9dd7f088
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000249954000193&KeyUID=WOS:000249954000193
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000249954000193&KeyUID=WOS:000249954000193
