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Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. ii - ii
Inside Back Cover: The cover image is based on the Research Article CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials by Katherine J.... 
Layouts | Phenotypes
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2018, Volume 13, Issue 3, pp. e0194443 - e0194443
Journal Article
Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2377 - 2392
Small molecule pharmacological inhibition of dominant human genetic disease is a feasible treatment that does not rely on the development of individual,... 
gene therapy | human gene variants | ADNIV | retina | calpain‐5 | loss‐of‐function | Proteins | Phenotypes | Proteolysis | Clinical trials | Retina | Homology | Kinases | Gene therapy | Expression vectors
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2018, Volume 115, Issue 15, p. 3924
Journal Article
Ophthalmic surgery, lasers & imaging retina, 05/2019, Volume 50, Issue 5, pp. e158 - e162
Lineage tracing can provide key insights into the development of tissues, such as the retina. Yet it is not possible to manipulate human cells during... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2016, Volume 113, Issue 6, p. 1570
  The neural crest (NC) represents multipotent cells that arise at the interphase between ectoderm and prospective epidermis of the neurulating embryo. The NC... 
Rodents | Mutation | Cells
Journal Article
Journal Article
Synthetic Communications, ISSN 0039-7911, 03/2010, Volume 40, Issue 8, pp. 1187 - 1191
Ketones are readily reduced to secondary alcohols with sodium hydroxide in refluxing isopropanol. 
Hydrogen transfer | ketone reduction | preparation of secondary alcohols | sodium hydroxide | Preparation of secondary alcohols | Ketone reduction | Sodium hydroxide | CHEMISTRY, ORGANIC | HYDRIDE-TRANSFER
Journal Article
Proceedings of the National Academy of Sciences of the United States, ISSN 0027-8424, 04/2018, Volume 115, Issue 15, p. 3924
Type 1 diabetes is characterized by autoimmune destruction of [beta] cells located in pancreatic islets. However, tractable in vivo models of human pancreatic... 
Physiological aspects | Pancreatic beta cells | Type 1 diabetes | Stem cells
Journal Article
Methods in molecular biology (Clifton, N.J.), ISSN 1064-3745, 2019, Volume 1915, pp. 233 - 247
Exome sequencing has identified many candidate genes and mutations for human diseases, but the functional validation of these candidates is a time-consuming... 
Intravitreal injection | CAPN5 | Lentiviral vectors | Calpain | Mouse eye | Molecular cloning | Subretinal injection
Journal Article
Cell Stem Cell, ISSN 1934-5909, 10/2016, Volume 19, Issue 4, pp. 502 - 515
Recent studies have aimed to convert cultured human pluripotent cells to a naive state, but it remains unclear to what extent the resulting cells recapitulate... 
imprinting | embryonic stem cells | DNA methylation | X chromosome reactivation | pluripotency | transposable elements | mouse-human chimeras | DNA METHYLATION | RNA-SEQ | LANDSCAPE | EMBRYONIC STEM-CELLS | MOUSE | GENERATION | INDUCTION | ESTABLISHMENT | GENOME | BLASTOCYST | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Resource
Journal Article
Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 02/2016, Volume 113, Issue 6, pp. 1570 - 1570
The neural crest (NC) represents multipotent cells that arise at the interphase between ectoderm and prospective epidermis of the neurulating embryo. The NC... 
Journal Article
Synthetic Communications, ISSN 0039-7911, 10/2011, Volume 41, Issue 19, pp. 2927 - 2931
Aryl ketones are readily deoxygenated to their corresponding aryl alkanes upon treatment with Raney nickel catalyst in boiling 2-propanol. 
Raney nickel | ketone reduction | hydrogenolysis | hydrogen transfer | Deoxygenation | Hydrogen transfer | Hydrogenolysis | Ketone reduction | REDUCTION | CHEMISTRY, ORGANIC | CATALYTIC TRANSFER HYDROGENATION
Journal Article
04/2014, Developments in Ophthalmology, ISBN 3318025844, Volume 53, 11
Retinal degeneration, including that seen in age-related macular degeneration and retinitis pigmentosa (RP), is the most common form of neural degenerative... 
Chapter | Genetic Predisposition to Disease | Animals | Prognosis | Eye Proteins - metabolism | Retinal Degeneration - genetics | Humans | Eye Proteins - genetics | Retinal Degeneration - physiopathology | Retinal Degeneration - pathology | Visual Acuity | Apoptosis | Retinal Ganglion Cells - pathology
Book Chapter