Lisa Stone
Overview
Explore the profile of Lisa Stone including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
248
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Recent Articles
1.
Gogna N, Hyde L, Collin G, Stone L, Naggert J, Nishina P
Adv Exp Med Biol
. 2023 Jul;
1415:27-36.
PMID: 37440010
Age-related macular degeneration (AMD) is the leading cause of blindness in the global aging population. Familial aggregation and genome-wide association (GWA) studies have identified gene variants associated with AMD, implying...
2.
Hyde L, Kong Y, Zhao L, Ramachandra Rao S, Wang J, Stone L, et al.
Int J Mol Sci
. 2022 Oct;
23(19).
PMID: 36233305
Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs...
3.
Weatherly S, Collin G, Charette J, Stone L, Damkham N, Hyde L, et al.
PLoS Genet
. 2022 Jun;
18(6):e1009798.
PMID: 35675330
Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without Coats-like vasculopathy), foveal retinoschisis, macular dystrophy,...
4.
Gogna N, Weatherly S, Zhao F, Collin G, Pinkney J, Stone L, et al.
Int J Mol Sci
. 2022 Feb;
23(3).
PMID: 35163536
and mutant mice share similar eye disease characteristics. Previously, studies established a functional relationship of ADIPOR1 and MFRP proteins in maintaining retinal lipidome homeostasis and visual function. However, the independent...
5.
Collin G, Gogna N, Chang B, Damkham N, Pinkney J, Hyde L, et al.
Cells
. 2020 Apr;
9(4).
PMID: 32290105
Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly...
6.
Kong Y, Zhao L, Charette J, Hicks W, Stone L, Nishina P, et al.
Hum Mol Genet
. 2018 Jun;
27(19):3340-3352.
PMID: 29947801
Photoreceptor dysplasia, characterized by formation of folds and (pseudo-)rosettes in the outer retina, is associated with loss of functional nuclear receptor subfamily 2 group E member 3 (NR2E3) and neural...
7.
Greenwald S, Charette J, Staniszewska M, Shi L, Brown S, Stone L, et al.
Am J Pathol
. 2016 May;
186(7):1925-1938.
PMID: 27207593
The nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) enzyme is essential for regenerating the nuclear pool of NAD(+) in all nucleated cells in the body, and mounting evidence also suggests that it...
8.
Charette J, Samuels I, Yu M, Stone L, Hicks W, Shi L, et al.
Adv Exp Med Biol
. 2015 Oct;
854:177-83.
PMID: 26427409
Mouse models provide important resources for many areas of vision research, pertaining to retinal development, retinal function and retinal disease. The Translational Vision Research Models (TVRM) program uses chemical mutagenesis...
9.
Collin G, Hubmacher D, Charette J, Hicks W, Stone L, Yu M, et al.
Hum Mol Genet
. 2015 Sep;
24(24):6958-74.
PMID: 26405179
Human gene mutations have revealed that a significant number of ADAMTS (a disintegrin-like and metalloproteinase (reprolysin type) with thrombospondin type 1 motifs) proteins are necessary for normal ocular development and...
10.
Pilcher J, Stone L, Reynolds R
Neonatal Netw
. 2013 Aug;
32(5):359-64.
PMID: 23985474
Various regulatory agencies have indicated the need to measure initial and ongoing competency among health care workers. Yet, what is competency and how can it be measured? In reality, competency...