Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Bernard FitzMaurice"'
Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
Autor:
Xiaojie Ji, Lihong Zhao, Ankita Umapathy, Bernard Fitzmaurice, Jieping Wang, David S. Williams, Bo Chang, Jürgen K. Naggert, Patsy M. Nishina
Publikováno v:
PLoS ONE, Vol 17, Iss 3 (2022)
Chediak–Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement o
Externí odkaz:
https://doaj.org/article/2c97b79ee2324ab186bf3cb28eb3ec6d
Autor:
Jieping Wang, Patsy M. Nishina, Jürgen K. Naggert, Lihong Zhao, David S. Williams, Bernard FitzMaurice, Bo Chang, Xiaojie Ji, Ankita Umapathy
Chediak–Higashi syndrome, caused by mutations in theLysosomeTrafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b08143db98a398133386718a593c614
https://doi.org/10.1101/2021.07.23.453557
https://doi.org/10.1101/2021.07.23.453557
Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
Autor:
Xiaojie Ji, Lihong Zhao, Ankita Umapathy, Bernard Fitzmaurice, Jieping Wang, David S. Williams, Bo Chang, Jürgen K. Naggert, Patsy M. Nishina
Publikováno v:
PloS one. 17(3)
Chediak–Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by albinism, neuropathies, neurodegeneration, and defective immune responses, with enlargement o
Publikováno v:
Experimental Eye Research. 179:106-114
The Cacna1f gene encodes the α1F subunit of an L-type voltage-gated calcium channel, Cav1.4. In photoreceptor synaptic terminals, Cav1.4 channels mediate glutamate release and postsynaptic responses associated with visual signal transmission. We hav
Autor:
Jieping Wang, Benjamin E. Low, Bernard FitzMaurice, Patsy M. Nishina, Bo Chang, Michael V. Wiles
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose To determine the molecular basis of lesion development in a murine model of spontaneous retinal vascularization, rnv3 (retinal vascularization 3, aka JR5558). Methods Disease progression of rnv3 was examined in longitudinal studies by clinica
Autor:
Ronald G. Gregg, Gobinda Pangeni, Laura G. Reinholdt, Neal S. Peachey, Samantha Burrill, Son Yong Karst, Bernard FitzMaurice, Maureen A. McCall, Nazarul Hasan, Marge Strobel, Melissa L. Berry, Bo Chang
Publikováno v:
Journal of Neurophysiology. 118:845-854
This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6
Autor:
Neal S, Peachey, Nazarul, Hasan, Bernard, FitzMaurice, Samantha, Burrill, Gobinda, Pangeni, Son Yong, Karst, Laura, Reinholdt, Melissa L, Berry, Marge, Strobel, Ronald G, Gregg, Maureen A, McCall, Bo, Chang
Publikováno v:
Journal of neurophysiology. 118(2)
This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6