Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Ronald G Gregg"'
Autor:
Pasano Bojang, Ronald G Gregg
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e33137 (2012)
Nyctalopin is a small leucine rich repeat proteoglycan (SLRP) whose function is critical for normal vision. The absence of nyctalopin results in the complete form of congenital stationary night blindness. Normally, glutamate released by photoreceptor
Externí odkaz:
https://doaj.org/article/72c184e29e764a7298103f42da9f42ba
Autor:
Kerry N Veth, Jason R Willer, Ross F Collery, Matthew P Gray, Gregory B Willer, Daniel S Wagner, Mary C Mullins, Ava J Udvadia, Richard S Smith, Simon W M John, Ronald G Gregg, Brian A Link
Publikováno v:
PLoS Genetics, Vol 7, Iss 2, p e1001310 (2011)
The glaucomas comprise a genetically complex group of retinal neuropathies that typically occur late in life and are characterized by progressive pathology of the optic nerve head and degeneration of retinal ganglion cells. In addition to age and fam
Externí odkaz:
https://doaj.org/article/38ba329e10954c9f95fdf5132f63c35f
Autor:
Yuanquan Song, Jason R Willer, Paul C Scherer, Jessica A Panzer, Amy Kugath, Emmanuel Skordalakes, Ronald G Gregg, Gregory B Willer, Rita J Balice-Gordon
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13743 (2010)
Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some
Externí odkaz:
https://doaj.org/article/bf92e3045b0d493d91f711d1cbc89c42
Autor:
Ariel M Pani, Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Patricia Bray-Ward, Kendra W Kimberley, Cecilia M Rios, Robin C Clark, Maricela D Gulbronson, Gordon C Gowans, Ronald G Gregg
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12349 (2010)
Intellectual disability (ID) affects 2-3% of the population and may occur with or without multiple congenital anomalies (MCA) or other medical conditions. Established genetic syndromes and visible chromosome abnormalities account for a substantial pe
Externí odkaz:
https://doaj.org/article/3ca61bbe14914e18b2633f5b2005b84b
Autor:
Yuanquan Song, Mary A Selak, Corey T Watson, Christopher Coutts, Paul C Scherer, Jessica A Panzer, Sarah Gibbs, Marion O Scott, Gregory Willer, Ronald G Gregg, Declan W Ali, Michael J Bennett, Rita J Balice-Gordon
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8329 (2009)
In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating
Externí odkaz:
https://doaj.org/article/55359c39e9ca49cea285c1631d908dbe
Publikováno v:
iScience, Vol 26, Iss 4, Pp 106499- (2023)
Summary: Complete congenital stationary night blindness (cCSNB) is a heterogeneous disorder characterized by poor dim-light vision, myopia, and nystagmus that is caused by mutations in genes critical for signal transmission between photoreceptors and
Externí odkaz:
https://doaj.org/article/5589c7f9eda4446d9e0cbd70ef068c2d
Autor:
Nazarul Hasan, Ronald G. Gregg
Daylight vision is mediated by cone photoreceptors in vertebrates, which synapse with bipolar cells (BCs) and horizontal (HCs) cells. This cone synapse is functionally and anatomically complex, connecting to 8 types of depolarizing (DBC) BCs and 5 ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df833424e25a3e8237b0d04096db3194
https://doi.org/10.1101/2023.05.24.542135
https://doi.org/10.1101/2023.05.24.542135
SUMMARYComplete congenital stationary night blindness (cCSNB) is a heterogeneous disorder characterized by poor dim light vision, myopia, and nystagmus, that is caused by mutations in genes critical for signal transmission between photoreceptors and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d4cdadbd7cf2ff6b5dc992ea0d5aaf1
https://doi.org/10.1101/2022.08.06.503042
https://doi.org/10.1101/2022.08.06.503042
Autor:
Varsha Jain, Laura Hanson, Santhosh Sethuramanujam, Tracy Michaels, Jerram Gawley, Ronald G. Gregg, Ian Pyle, Chi Zhang, Robert G. Smith, David Berson, Maureen A. McCall, Gautam B. Awatramani
Publikováno v:
Cell Rep
In the retina, ON starburst amacrine cells (SACs) play a crucial role in the direction-selective circuit, but the sources of inhibition that shape their response properties remain unclear. Previous studies demonstrate that ~95% of their inhibitory sy
Autor:
Santhosh Sethuramanujam, David M. Berson, Laura Hanson, Jain, Gautam B. Awatramani, Robert G. Smith, Maureen A. McCall, Ronald G. Gregg, Chi Zhang
SummaryRetinal ON starburst amacrine cells (SACs) play a critical role in computing stimulus direction, partly in service of image stabilization by optokinetic nystagmus. ON SAC responses are sculpted by rich GABAergic innervation, mostly from neighb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2aa00d62cf761f4621298f9316de39b5
https://doi.org/10.1101/2021.05.03.442480
https://doi.org/10.1101/2021.05.03.442480