Jurgen K Naggert
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Explore the profile of Jurgen K Naggert including associated specialties, affiliations and a list of published articles.
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98
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2914
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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.
Dassie F, Albiero M, Bettini S, Cappellari R, Milan G, Ciciliot S, et al.
Endocrinology
. 2023 Jan;
164(3).
PMID: 36702623
Alström syndrome (AS) is a rare genetic disease caused by ALMS1 mutations, characterized by short stature, and vision and hearing loss. Patients with AS develop the metabolic syndrome, long-term organ...
3.
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...
4.
Pandey R, Krebs M, Bolisetty M, Charette J, Naggert J, Robson P, et al.
Int J Mol Sci
. 2022 Sep;
23(18).
PMID: 36142331
Transcriptomic analysis of the mammalian retinal pigment epithelium (RPE) aims to identify cellular networks that influence ocular development, maintenance, function, and disease. However, available evidence points to RPE cell heterogeneity...
5.
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,...
6.
Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
Ji X, Zhao L, Umapathy A, Fitzmaurice B, Wang J, Williams D, et al.
PLoS One
. 2022 Mar;
17(3):e0254469.
PMID: 35239671
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 of lysosomes...
7.
Collin G, Shi L, Yu M, Akturk N, Charette J, Hyde L, et al.
Int J Mol Sci
. 2022 Feb;
23(4).
PMID: 35216333
Fluid and solute transporters of the retinal pigment epithelium (RPE) are core components of the outer blood-retinal barrier. Characterizing these transporters and their role in retinal homeostasis may provide insights...
8.
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...
9.
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...
10.
Jaykumar A, Caceres P, King-Medina K, Liao T, Datta I, Maskey D, et al.
JCI Insight
. 2018 Nov;
3(21).
PMID: 30385718
Elevated blood pressure (BP) and renal dysfunction are complex traits representing major global health problems. Single nucleotide polymorphisms identified by genome-wide association studies have identified the Alström syndrome 1 (ALMS1)...