Noninvasive, In Vivo Assessment of Mouse Retinal Structure Using Optical Coherence Tomography

Autor: Naoyuki Tanimoto, Andreas Wenzel, Charlotte E. Remé, Mathias W. Seeliger, Rod Bremner, M. Dominik Fischer, Regine Muehlfriedel, Serge A. van de Pavert, Gesine Huber, Jan Wijnholds, Christian Grimm, Marek Pacal, Susanne C. Beck, E. Fahl

Publikováno v: PLoS ONE
PLoS ONE, Vol 4, Iss 10, p e7507 (2009)
PLoS ONE, 4(10), 1-7. Public Library of Science
Fischer, M D, Huber, G, Beck, S C, Tanimoto, N, Muehlfriedel, R, Fahl, E, Grimm, C, Wenzel, A, Reme, C E, van de Pavert, S A, Wijnholds, J, Pacal, M, Bremner, R & Seeliger, M W 2009, ' Noninvasive, In Vivo Assessment of Mouse Retinal Structure Using Optical Coherence Tomography ', PLoS ONE, vol. 4, no. 10, pp. 1-7 . https://doi.org/10.1371/journal.pone.0007507
PLoS One, 4. Public Library of Science

BackgroundOptical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration.Methodology/principal findingsWe a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75811cdb0ad1ad50c7f5be3c6e587d6e
https://doi.org/10.1371/journal.pone.0007507

Elevated oxidative membrane damage associated with genetic modifiers of Lyst-mutant phenotypes

Autor: Michael G. Anderson, Sachiyo Iwashita, Colleen M. Trantow, Steven A. Moore, Adam Hedberg-Buenz

Publikováno v: PLoS Genetics, Vol 6, Iss 7, p e1001008 (2010)
PLoS Genetics

LYST is a large cytosolic protein that influences the biogenesis of lysosome-related organelles, and mutation of the encoding gene, LYST, can cause Chediak-Higashi syndrome. Recently, Lyst-mutant mice were recognized to also exhibit an iris disease r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54c05fee91d830f3886c86fe9c725ec
http://europepmc.org/articles/PMC2895641?pdf=render

Genetic dissection of the function of hindbrain axonal commissures

Autor: Marc Tessier-Lavigne, Alain Chédotal, Chris I. De Zeeuw, Nicolas Renier, Paul Avan, Martijn Schonewille, Aleksandra Badura, Fabrice Giraudet

Publikováno v: PLoS Biology, Vol 8, Iss 3, p e1000325 (2010)
PLoS Biology
PLoS Biology, 2010, 8 (3), pp.e1000325. ⟨10.1371/journal.pbio.1000325⟩
PLoS Biology, Public Library of Science, 2010, 8 (3), pp.e1000325. ⟨10.1371/journal.pbio.1000325⟩
PLoS Biology, 8. Public Library of Science
PLoS Biology (print), 8(3). Public Library of Science

The Robo3 receptor controls midline crossing by axons. Deleting Robo3 in specific commissural neurons with a conditional knockout reveals their contribution to sensory and motor integration, and models human neurological conditions.
In Bilateria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc2469b20d182bc00119e63cd1efbe1
http://europepmc.org/articles/PMC2834709?pdf=render

Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human

Autor: Ke Tang, Brian P. Brooks, Ramakrishna P. Alur, Haiquan Liu, Mohit Mehtani, Jacob D. Brown, MaryPat Jones, Ighovie F. Onojafe, Chun-hong Xia, Elangovan Boobalan, Camasamudram Vijayasarathy, Xiaohua Gong, Yuri V. Sergeev

Publikováno v: PLoS Genetics, Vol 6, Iss 3, p e1000870 (2010)
PLoS Genetics

Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3faf2e2b2a2dcfe628787c38d883fe12
http://europepmc.org/articles/PMC2832668?pdf=render

UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

Autor: Brittany N. Kostiha, Michael Dean, Masakazu Yamada, Richard Grutzmacher, Ke Ping Xu, James Chodosh, Chris Croasdale, Marc Goldberg, Maria Hoeltzenbein, Timo Tervo, Ludger A. Wessjohann, Bert Gold, Fushin X Yu, Howard S. Kruth, Michael L. Nickerson, Wolfgang Brandt, S. Bruce Malkowicz, Da Wen Lu, Jayne S. Weiss, John E. Sutphin, William J. Fredericks

Publikováno v: PLoS ONE
PLoS ONE, Vol 5, Iss 5, p e10760 (2010)

BackgroundMutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b311edfb445f7b3eeb606f1e57d6cce
http://hdl.handle.net/10138/165603