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Nature Genetics|April 10, 2002
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin, Jan D Marshall, Akihiro Ikeda, et al.
The Journal of Biological Chemistry|March 9, 2010
Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in miceEwa Budzynski, Alecia K Gross, Suzanne D McAlear, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller GliaDennis M Maddox, Gayle B Collin, Akihiro Ikeda, et al.
Human Molecular Genetics|December 23, 1999
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 geneS Ikeda, N Shiva, A Ikeda, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2015
Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegenerationLihong Zhao, Stefka Spassieva, Kenneth Gable, et al.
International Journal of Molecular Sciences|February 26, 2022
A Splicing Mutation in <i>Slc4a5</i> Results in Retinal Detachment and Retinal Pigment Epithelium DysfunctionGayle B Collin, Lanying Shi, Minzhong Yu, et al.
International Journal of Molecular Sciences|October 14, 2022
A <i>Dpagt1</i> Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in MiceLillian F Hyde, Yang Kong, Lihong Zhao, et al.
Plos Genetics|June 8, 2022
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse modelSonia M Weatherly, Gayle B Collin, Jeremy R Charette, et al.
The American Journal of Pathology|August 5, 2014
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degenerationDelu Song, Steve Grieco, Yafeng Li, et al.
Human Molecular Genetics|August 14, 2003
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retinaAdrienne K Mehalow, Shuhei Kameya, Richard S Smith, et al.
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