Zobrazeno 1 - 10 of 29 pro vyhledávání: '"Lisa R, Latchney"'
1
A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface
Autor: Lisa R. Latchney, Vera L. Bonilha, Kannan Vrindavan Manian, Stefanie Volland, Chad A. Galloway, Caroline Milliner, Sonal Dalvi, Tyler B. Johnson, Ruchira Singh, Lauren Winschel, Mina M. Chung, Jonathan W. Mink, Cynthia Tang, Whitney Spencer, Jimin Han, Michael Roll, Erika F. Augustine, David S. Williams, Jill M. Weimer, Vamsi K. Gullapalli, Celia Soto
Publikováno v: Communications Biology, Vol 4, Iss 1, Pp 1-18 (2021)
Communications Biology
Mutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss, neurological impairment, and premature death. However, how CLN3 mutations cause photoreceptor cell death is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ccf4584a92f654fcffba921cd8cc0ad
https://doaj.org/article/3a26677720f143228deb8043e7d31748
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2
Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging
Autor: Edwin M. Stone, Mina M. Chung, Hongxin Song, David R. Williams, Ethan A. Rossi, Lisa R. Latchney, Alfredo Dubra
Publikováno v: The British Journal of Ophthalmology
PurposeSeveral genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b466164deecfa68b0df015a4f02fb68b
https://doi.org/10.1136/bjophthalmol-2017-310498
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3
Imaging individual neurons in the retinal ganglion cell layer of the living eye
Autor: Mina M. Chung, Koji Nozato, Sarah Walters, David R. Williams, Christina Schwarz, Robin Sharma, Kenichi Saito, Lisa R. Latchney, Jie Zhang, William S. Fischer, Qiang Yang, Jennifer J. Hunter, Charles E. Granger, Ethan A. Rossi, Tomoaki Kawakami
Publikováno v: Proceedings of the National Academy of Sciences. 114:586-591
Although imaging of the living retina with adaptive optics scanning light ophthalmoscopy (AOSLO) provides microscopic access to individual cells, such as photoreceptors, retinal pigment epithelial cells, and blood cells in the retinal vasculature, ot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a2903af34fa6889fa60d9affcffc18c
https://doi.org/10.1073/pnas.1613445114
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4
Drusen in patient-derived hiPSC-RPE models of macular dystrophies
Autor: Sandy S.C. Hung, Alex W. Hewitt, David S. Williams, Lisa R. Latchney, Raymond C.B. Wong, Robyn H. Guymer, Sonal Dalvi, Ruchira Singh, David A. Mackey, Alice Pébay, Chad A. Galloway, Leslie MacDonald, Mina M. Chung, David M. Gamm
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 114(39)
Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision loss. However, the mechanisms underlying their progression remain ill-defined. This is partly due to the lack of disease models recapitulating th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fb1f5be341b8965c45d37162460293
https://pubmed.ncbi.nlm.nih.gov/28878022
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5
High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease
Autor: Hongxin Song, Charles E. Granger, Qiang Yang, Ethan A. Rossi, Mina M. Chung, Lisa R. Latchney
Publikováno v: JAMA Ophthalmology. 137:603
Importance Targeting the early pathogenic steps in Stargardt disease type 1 (STGD1) is critical to advance our understanding of this condition and to develop potential therapies. Lipofuscin precursors may accumulate within photoreceptors, leading to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da5c723ee23b103677d0a7beeedab07c
https://doi.org/10.1001/jamaophthalmol.2019.0299
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6
Human Retinal Pigment Epithelium: In Vivo Cell Morphometry, Multispectral Autofluorescence, and Relationship to Cone Mosaic
Autor: Mina M. Chung, Hongxin Song, David R. Williams, Koji Nozato, Qiang Yang, Ethan A. Rossi, Kenichi Saito, Lisa R. Latchney, Charles E. Granger, Bianca T. Leonard
Publikováno v: Investigative Ophthalmology & Visual Science
Purpose To characterize in vivo morphometry and multispectral autofluorescence of the retinal pigment epithelial (RPE) cell mosaic and its relationship to cone cell topography across the macula. Methods RPE cell morphometrics were computed in regular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cb89b2eb0b82a2e565264fe1d7d7ed
https://doi.org/10.1167/iovs.18-24677
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7
The sld Genetic Defect
Autor: Margaret A. Fallon, Arthur R. Hand, Lisa R. Latchney, Rosemary W. Elliott, Biswadip Das, Melanie N. Cash, David J. Culp, Bently Robinson, Christopher S. Kuhns
Publikováno v: Journal of Biological Chemistry. 288:14742-14755
The autosomal recessive mutation, sld, attenuates mucous cell expression in murine sublingual glands with corresponding effects on mucin 19 (Muc19). We conducted a systematic study including genetic mapping, sequencing, and functional analyses to elu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bad36c5e8e36571db32cd6d2a4ef3c66
https://doi.org/10.1074/jbc.m113.468645
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8
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy
Autor: David R. Williams, Angela Bessette, Ethan A. Rossi, Lisa R. Latchney, Edwin M. Stone, Hongxin Song, Jennifer J. Hunter, Mina M. Chung
Stargardt disease (STGD1) is characterized by macular atrophy and flecks in the retinal pigment epithelium. The causative ABCA4 gene encodes a protein localizing to photoreceptor outer segments. The pathologic steps by which ABCA4 mutations lead to c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e9fbac3f2c853f6e66785cf1c913d8
https://europepmc.org/articles/PMC4600048/
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9
Thesldmutation is specific for sublingual salivary mucous cells and disrupts apomucin gene expression
Autor: P. A. Denny, P. C. Denny, David J. Culp, A. Johar, Lisa R. Latchney, Margaret A. Fallon, Philippe T. Georgel, Arthur R. Hand
Publikováno v: Physiological Genomics. 14:95-106
NFS/N- sld mice harbor a spontaneous autosomal recessive mutation, sld (sublingual gland differentiation arrest) and histologically display attenuated mucous cell expression in sublingual glands (Hayashi et al. Am J Pathol 132: 187–191, 1988). Beca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce715a12802b36a22e780cbdce46b13
https://doi.org/10.1152/physiolgenomics.00151.2002
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10
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus
Autor: Hongxin Song, Mina M. Chung, David R. Williams, Lisa R. Latchney
Publikováno v: JAMA ophthalmology. 132(9)
Importance Fundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7eab8abb540edf6e403887dc520fbe
https://pubmed.ncbi.nlm.nih.gov/24922193
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