Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes

Authors: Peter Vo, Denise M. Imai-Leonard, Benjamin Yang, Andrew Briere, Andy Shao, M. Isabel Casanova, David Adams, Takanori Amano, Oana Amarie, Zorana Berberovic, Lynette Bower, Robert Braun, Steve Brown, Samantha Burrill, Soo Young Cho, Sharon Clementson-Mobbs, Abigail D’Souza, Mary Dickinson, Mohammad Eskandarian, Ann M. Flenniken, Helmut Fuchs, Valerie Gailus-Durner, Jason Heaney, Yann Hérault, Martin Hrabe de Angelis, Chih-Wei Hsu, Shundan Jin, Russell Joynson, Yeon Kyung Kang, Haerim Kim, Hiroshi Masuya, Hamid Meziane, Steve Murray, Ki-Hoan Nam, Hyuna Noh, Lauryl M. J. Nutter, Marcela Palkova, Jan Prochazka, Miles Joseph Raishbrook, Fabrice Riet, Jennifer Ryan, Jason Salazar, Zachery Seavey, John Richard Seavitt, Radislav Sedlacek, Mohammed Selloum, Kyoung Yul Seo, Je Kyung Seong, Hae-Sol Shin, Toshihiko Shiroishi, Michelle Stewart, Karen Svenson, Masaru Tamura, Heather Tolentino, Uchechukwu Udensi, Sara Wells, Jacqueline White, Amelia Willett, Janine Wotton, Wolfgang Wurst, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Louise Lanoue, K. C. Kent Lloyd, Brian C. Leonard, Michel J. Roux, Colin McKerlie, Ala Moshiri

Source: BMC Genomics, Vol 26, Iss 1, Pp 1-11 (2025)

Subject Terms: Corneal dysmorphologies, Corneal disease, Corneal dystrophies, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/7346cc15ec8248fdb069983714a55d83

Single cell dual-omic atlas of the human developing retina

Authors: Zhen Zuo, Xuesen Cheng, Salma Ferdous, Jianming Shao, Jin Li, Yourong Bao, Jean Li, Jiaxiong Lu, Antonio Jacobo Lopez, Juliette Wohlschlegel, Aric Prieve, Mervyn G. Thomas, Thomas A. Reh, Yumei Li, Ala Moshiri, Rui Chen

Source: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/04607c5381984c0e9882f1c3957b1bb8

Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models

Authors: Jun Wang, Meng Wang, Ala Moshiri, R. Alan Harris, Muthuswamy Raveendran, Tracy Nguyen, Soohyun Kim, Laura Young, Keqing Wang, Roger Wiseman, David H. O’Connor, Zach Johnson, Melween Martinez, Michael J. Montague, Ken Sayers, Martha Lyke, Eric Vallender, Tim Stout, Yumei Li, Sara M. Thomasy, Jeffrey Rogers, Rui Chen

Source: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/3f3b441ea78049f683562adc440c2848

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

Authors: Justine M. Chee, Louise Lanoue, Dave Clary, Kendall Higgins, Lynette Bower, Ann Flenniken, Ruolin Guo, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, H.-J. Genie Chin, Mary E. Dickinson, Chih-Wei Hsu, Michael Dobbie, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Fabio Mammano, Lauryl M. J. Nutter, Helen Parkinson, Chuan Qin, Toshi Shiroishi, Radislav Sedlacek, J-K Seong, Ying Xu, The International Mouse Phenotyping Consortium, Brian Brooks, Colin McKerlie, K. C. Kent Lloyd, Henrik Westerberg, Ala Moshiri

Source: BMC Biology, Vol 21, Iss 1, Pp 1-15 (2023)

Subject Terms: MAC spectrum, Eye development, Mouse, IMPC, Serine-glycine biosynthesis, CPLANE, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/f36d8250a6ce4896a0f38551711ec1ef

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Authors: Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/c0d5d5cc412449dba2430740f3a4e375

307 Revealing Candidate Inherited Retinal Disease Candidates via Genome-wide Screening of Knockout Mice

Authors: Benjamin Yang, Andy Shao, Mustafa Jundi, Michael Shea, Cameron Ylagan, Ala Moshiri

Source: Journal of Clinical and Translational Science, Vol 8, Pp 94-94 (2024)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2059866124002784/type/journal_article; https://doaj.org/toc/2059-8661

Access URL: https://doaj.org/article/daede4a950be406e9265850a83bd1d82

Retinal dystrophies: A look beyond the eyes

Authors: Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P. Shankar

Source: American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101613- (2022)

Subject Terms: Alstrom syndrome, Bardet Biedl syndrome, Refsum disease, Retinal dystrophies, Genetic testing, Genome sequencing, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993622003590; https://doaj.org/toc/2451-9936

Access URL: https://doaj.org/article/dbb2179bcfca475c8c18d5c90a54adf6

Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death

Authors: Andy Shao, Antonio Jacobo Lopez, JiaJia Chen, Addy Tham, Seanne Javier, Alejandra Quiroz, Sonia Frick, Edward M. Levine, K. C. Kent Lloyd, Brian C. Leonard, Christopher J. Murphy, Thomas M. Glaser, Ala Moshiri

Source: Disease Models & Mechanisms, Vol 15, Iss 7 (2022)

Subject Terms: arap1, rpe, phagocytosis, retinitis, pigmentosa, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/15/7/dmm049343; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/1e0ef4641f5c422b9cd28293ca0d8764

MicroRNA Signatures of the Developing Primate Fovea

Authors: Elizabeth S. Fishman, Mikaela Louie, Adam M. Miltner, Simranjeet K. Cheema, Joanna Wong, Nicholas M. Schlaeger, Ala Moshiri, Sergi Simó, Alice F. Tarantal, Anna La Torre

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: microRNAs, retinal development, fovea, miR-342-5p, miR-15b, rhesus monkey, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.654385/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/0dfb8e71e7b942169a5bab201ced6f87

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.

Authors: Anna L Swan, Christine Schütt, Jan Rozman, Maria Del Mar Muñiz Moreno, Stefan Brandmaier, Michelle Simon, Stefanie Leuchtenberger, Mark Griffiths, Robert Brommage, Piia Keskivali-Bond, Harald Grallert, Thomas Werner, Raffaele Teperino, Lore Becker, Gregor Miller, Ala Moshiri, John R Seavitt, Derek D Cissell, Terrence F Meehan, Elif F Acar, Christopher J Lelliott, Ann M Flenniken, Marie-France Champy, Tania Sorg, Abdel Ayadi, Robert E Braun, Heather Cater, Mary E Dickinson, Paul Flicek, Juan Gallegos, Elena J Ghirardello, Jason D Heaney, Sylvie Jacquot, Connor Lally, John G Logan, Lydia Teboul, Jeremy Mason, Nadine Spielmann, Colin McKerlie, Stephen A Murray, Lauryl M J Nutter, Kristian F Odfalk, Helen Parkinson, Jan Prochazka, Corey L Reynolds, Mohammed Selloum, Frantisek Spoutil, Karen L Svenson, Taylor S Vales, Sara E Wells, Jacqueline K White, Radislav Sedlacek, Wolfgang Wurst, K C Kent Lloyd, Peter I Croucher, Helmut Fuchs, Graham R Williams, J H Duncan Bassett, Valerie Gailus-Durner, Yann Herault, Ann-Marie Mallon, Steve D M Brown, Philipp Mayer-Kuckuk, Martin Hrabe de Angelis, IMPC Consortium

Source: PLoS Genetics, Vol 16, Iss 12, p e1009190 (2020)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1009190&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/14895730ccd5432c954b9d406684a8d3

Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1+/−) in mice

Authors: Soohyun Kim, Sara M. Thomasy, Vijay Krishna Raghunathan, Leandro B.C. Teixeira, Ala Moshiri, Paul FitzGerald, Christopher J. Murphy

Source: Molecular Vision, Vol 25, Iss 1, Pp 129-142 (2019)

Subject Terms: single copy deletion, microphthalmia, corneal fibrosis, cataract, Biology (General), QH301-705.5, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.molvis.org/molvis/v25/129/; https://doaj.org/toc/1090-0535

Access URL: https://doaj.org/article/73faeb97487541e49b549242e9e69cb3

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

Authors: Jan Rozman, Birgit Rathkolb, Manuela A. Oestereicher, Christine Schütt, Aakash Chavan Ravindranath, Stefanie Leuchtenberger, Sapna Sharma, Martin Kistler, Monja Willershäuser, Robert Brommage, Terrence F. Meehan, Jeremy Mason, Hamed Haselimashhadi, IMPC Consortium, Tertius Hough, Ann-Marie Mallon, Sara Wells, Luis Santos, Christopher J. Lelliott, Jacqueline K. White, Tania Sorg, Marie-France Champy, Lynette R. Bower, Corey L. Reynolds, Ann M. Flenniken, Stephen A. Murray, Lauryl M. J. Nutter, Karen L. Svenson, David West, Glauco P. Tocchini-Valentini, Arthur L. Beaudet, Fatima Bosch, Robert B. Braun, Michael S. Dobbie, Xiang Gao, Yann Herault, Ala Moshiri, Bret A. Moore, K. C. Kent Lloyd, Colin McKerlie, Hiroshi Masuya, Nobuhiko Tanaka, Paul Flicek, Helen E. Parkinson, Radislav Sedlacek, Je Kyung Seong, Chi-Kuang Leo Wang, Mark Moore, Steve D. Brown, Matthias H. Tschöp, Wolfgang Wurst, Martin Klingenspor, Eckhard Wolf, Johannes Beckers, Fausto Machicao, Andreas Peter, Harald Staiger, Hans-Ulrich Häring, Harald Grallert, Monica Campillos, Holger Maier, Helmut Fuchs, Valerie Gailus-Durner, Thomas Werner, Martin Hrabe de Angelis

Source: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/7b0bd2741d2c4a34a03d78a177e5cce3

Identification of Patients with Pentosan Polysulfate Sodium-Associated Maculopathy through Screening of the Electronic Medical Record at an Academic Center

Authors: Kendall Higgins, R. Joel Welch, Colin Bacorn, Glenn Yiu, Jennifer Rothschild, Susanna S. Park, Ala Moshiri

Source: Journal of Ophthalmology, Vol 2020 (2020)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058

Access URL: https://doaj.org/article/06357cdc6955402a9705f6e90f22b24d

The Management of Retinal Detachment: Techniques and Perspectives 2018

Authors: Elad Moisseiev, Anat Loewenstein, Ala Moshiri, Glenn Yiu

Source: Journal of Ophthalmology, Vol 2019 (2019)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058

Access URL: https://doaj.org/article/032137f85ba1401db7cdce5c8864fc36

Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy

Authors: Elad Moisseiev, Ala Moshiri

Source: Case Reports in Ophthalmology, Vol 6, Iss 3, Pp 289-292 (2015)

Subject Terms: Birdshot chorioretinopathy, Ozurdex, Dexamethasone, Vitritis, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.karger.com/Article/FullText/437044; https://doaj.org/toc/1663-2699

Access URL: https://doaj.org/article/599182760d114f7d93a53d2c0f766771

Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts

Authors: Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney G. Edwards, Ann Cooper, Denise M. Imai, Ewan Straiton, Luis Santos, Christopher Reilly, Stephen M. Griffey, Lynette Bower, David Clary, Jeremy Mason, Michel J. Roux, Hamid Meziane, Yann Herault, International Mouse Phenotyping Consortium, Colin McKerlie, Ann M. Flenniken, Lauryl M. J. Nutter, Zorana Berberovic, Celeste Owen, Susan Newbigging, Hibret Adissu, Mohammed Eskandarian, Chih-Wei Hsu, Sowmya Kalaga, Uchechukwu Udensi, Chinwe Asomugha, Ritu Bohat, Juan J. Gallegos, John R. Seavitt, Jason D. Heaney, Arthur L. Beaudet, Mary E. Dickinson, Monica J. Justice, Vivek Philip, Vivek Kumar, Karen L. Svenson, Robert E. Braun, Sara Wells, Heather Cater, Michelle Stewart, Sharon Clementson-Mobbs, Russell Joynson, Xiang Gao, Tomohiro Suzuki, Shigeharu Wakana, Damian Smedley, J. K. Seong, Glauco Tocchini-Valentini, Mark Moore, Colin Fletcher, Natasha Karp, Ramiro Ramirez-Solis, Jacqueline K. White, Martin Hrabe de Angelis, Wolfgang Wurst, Sara M. Thomasy, Paul Flicek, Helen Parkinson, Steve D. M. Brown, Terrence F. Meehan, Patsy M. Nishina, Stephen A. Murray, Mark P. Krebs, Ann-Marie Mallon, K. C. Kent Lloyd, Christopher J. Murphy, Ala Moshiri

Source: Communications Biology, Vol 2, Iss 1, Pp 1-2 (2019)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/8d8550fc215047fe947e147fb5638498

The Management of Retinal Detachment: Techniques and Perspectives

Authors: Elad Moisseiev, Anat Loewenstein, Ala Moshiri, Glenn Yiu

Source: Journal of Ophthalmology, Vol 2017 (2017)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058

Access URL: https://doaj.org/article/2814204806d84dccbd4b6cf20a1c813f

A Review of Innovations in Rhegmatogenous Retinal Detachment Surgical Techniques

Authors: Achia Nemet, Ala Moshiri, Glenn Yiu, Anat Loewenstein, Elad Moisseiev

Source: Journal of Ophthalmology, Vol 2017 (2017)

Subject Terms: Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/2090-004X; https://doaj.org/toc/2090-0058

Access URL: https://doaj.org/article/4e62f6e793f04e1d9201e538ee48b41b

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Sonic hedgehog regulates proliferation of the retinal ciliary marginal zone in posthatch chicks.

Authors: Ala Moshiri, Christopher R. McGuire, Thomas A. Reh

Source: Developmental Dynamics; May2005, Vol. 233 Issue 1, p66-75, 10p