Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Jack Favor"'
Autor:
John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38310 (2012)
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly inv
Externí odkaz:
https://doaj.org/article/1d1ada78800e44e893b4656b106c2943
Autor:
Thomas Klopstock, Xiufeng Gao, David J. P. Bassett, Thomas H. Sanderson, Cornelia Prehn, Frauke Neff, Helmut Fuchs, Oliver Puk, Thure Adler, Markus Ollert, Jan Rozman, Petr Pecina, Monica Tost, Martin Hrabě de Angelis, Icksoo Lee, Lore Becker, Valerie Gailus-Durner, Maik Hüttemann, Siddhesh Aras, Alena Pecinova, Heinz Höfler, Anja Schrewe, Jack Favor, Minxuan Sun, Jochen Graw, Raffi Bekeredjian, Birgit Rathkolb, Eckhard Wolf, Lawrence I. Grossman, Beatrix Naton, Juan Antonio Aguilar-Pimentel, Jerzy Adamski, Jeffrey W. Doan, Natascha Sommer, Norbert Weissmann, Jenney Liu, Martin Klingenspor, Dirk H. Busch, Wolfgang Hans
Publikováno v:
The FASEB Journal. 26:3916-3930
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial electron transport chain. The purpose of this study was to analyze the function of lung-specific cytochrome c oxidase subunit 4 isoform 2 (COX4i2) in vitro and in COX4i2-knockout
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ea9bed799af839f2cac5a1498aa1357
https://doi.org/10.1096/fj.11-203273
https://doi.org/10.1096/fj.11-203273
Autor:
Jovica Ninkovic, Ales Cvekl, Alexandra Lepier, Michael A. Rieger, Stefania Petricca, Magdalena Götz, Jian Sun, Luísa Pinto, Timm Schroeder, Jack Favor
Publikováno v:
Neuron 68, 682-694 (2010)
Most neurons in the adult mammalian brain survive for the entire life of an individual. However, it is not known which transcriptional pathways regulate this survival in a healthy brain. Here, we identify a pathway regulating neuronal survival in a h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d085a3ee4e04884d48a1febacd28a584
Autor:
Walter Pretsch, Angelika Neuhäuser-Klaus, Rodica Sandulache, Irmgard Zaus, Jack Favor, Christian Johannes Gloeckner, Simon Saule
Publikováno v:
Genetics 179, 1345-1355 (2008)
In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6132-14Neu allele is a Phe272Ile missense mutation within the third helix of the homeodomain. The mutant Pax6 homeodom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5844a53f06b95940d01f3ed2f3e1e812
https://doi.org/10.1534/genetics.108.088591
https://doi.org/10.1534/genetics.108.088591
Autor:
Sonja Hess, S. Ray, Keith Wyatt, Graeme Wistow, Katherine Peterson, Debora Bogani, Nabanita Nag, Jack Favor, Mary F. Lyon
Publikováno v:
Genomics. 89(4):512-520
No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf clus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b4a7b093bc0dd292c1789f85295e38
Autor:
Martina Klempt, Wolfgang W. Schmahl, Christian Johannes Gloeckner, Jack Favor, Dirk Janik, Walter Pretsch, Angelika Neuhäuser-Klaus, Leticia Quintanilla-Fend
Publikováno v:
Genetics. 175:725-736
The basement membrane is important for proper tissue development, stability, and physiology. Major components of the basement membrane include laminins and type IV collagens. The type IV procollagens Col4a1 and Col4a2 form the heterotrimer [α1(IV)]2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db439511e1cd505cd2bc81146b2cec12
https://doi.org/10.1534/genetics.106.064733
https://doi.org/10.1534/genetics.106.064733
Publikováno v:
Mammalian Genome. 17:851-857
In the mouse, only a few genes have been definitively associated with a small-eye phenotype; the paired-box gene Pax6 and the gene coding for the microphthalmia-associated transcription factor (Mitf). Mutant alleles were recovered by crude phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48a53e0ff6132c51a3dd2f7d7f28ad7
https://doi.org/10.1007/s00335-006-0019-5
https://doi.org/10.1007/s00335-006-0019-5
Autor:
Jack Favor, Michael Rosemann, Leticia Quintanilla-Martinez, Markus Kremer, Michael J. Atkinson, Virginija Kuosaite
Publikováno v:
International Journal of Cancer. 118:2132-2138
In a recent study, we presented evidence for genetic predisposition governing radiation osteosarcomagenesis in mice. Following the incorporation of the bone-seeking α emitter 227Th, ˜25% of the variance in osteosarcoma incidence was determined by i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f87fb64751ed1096ac0c04f1a46869
https://doi.org/10.1002/ijc.21612
https://doi.org/10.1002/ijc.21612
Publikováno v:
Mammalian Genome. 16:332-343
Tcm (total cataract with microphthalmia) is an autosomal dominant mouse eye mutation. Heterozygous Tcm/+ mice are born with several eye malformations including microphthalmia, retinal and iris dysplasia, total lens cataract, and ventral coloboma. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c741762c8a356b6a65497a237a31888
https://doi.org/10.1007/s00335-004-2444-7
https://doi.org/10.1007/s00335-004-2444-7
Autor:
Michael D. Shelby, Jack Favor
Publikováno v:
Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 580:21-30
An increase in the germ line mutation rate in humans will result in an increase in the incidence of genetically determined diseases in subsequent generations. Thus, it is important to identify those agents that are mutagenic in mammalian germ cells.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84e2b750240fe8a2526fd63f138174ab
https://doi.org/10.1016/j.mrgentox.2004.09.010
https://doi.org/10.1016/j.mrgentox.2004.09.010