Jurgen K Naggert
Overview
Explore the profile of Jurgen K Naggert including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
98
Citations
2914
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Waldman M, Han J, Reyes-Capo D, Bryant J, Carson K, Turkbey B, et al.
Mol Genet Metab
. 2018 Aug;
125(1-2):181-191.
PMID: 30064963
Alström Syndrome is a ciliopathy associated with obesity, insulin resistance/type 2 diabetes mellitus, cardiomyopathy, retinal degeneration, hearing loss, progressive liver and kidney disease, and normal cognitive function. ALMS1, the protein...
12.
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...
13.
Kong Y, Naggert J, Nishina P
Adv Exp Med Biol
. 2018 May;
1074:545-551.
PMID: 29721986
The formation of solid tissues is not a simple aggregation of individual cells but rather an ordered assembly of cells connected by junctions. These junctions provide a diffusion barrier as...
14.
Han J, Reyes-Capo D, Liu C, Reynolds J, Turkbey E, Turkbey I, et al.
J Clin Endocrinol Metab
. 2018 May;
103(7):2707-2719.
PMID: 29718281
Background: Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. AS is characterized by retinal dystrophy, sensory hearing...
15.
Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, et al.
Mol Ther
. 2018 Jan;
26(2):524-541.
PMID: 29292161
Retinal gene transfer with adeno-associated viral (AAV) vectors holds great promise for the treatment of inherited retinal degenerations (IRDs). One limit of AAV is its transfer capacity of about 5...
16.
Krebs M, Collin G, Hicks W, Yu M, Charette J, Shi L, et al.
PLoS One
. 2017 Sep;
12(8):e0183837.
PMID: 28859131
Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each...
17.
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
Brofferio A, Sachdev V, Hannoush H, Marshall J, Naggert J, Sidenko S, et al.
Mol Genet Metab
. 2017 Jun;
121(4):336-343.
PMID: 28610912
Background: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older...
18.
Lindsey S, Brewer C, Stakhovskaya O, Kim H, Zalewski C, Bryant J, et al.
Am J Med Genet A
. 2017 Jun;
173(8):2210-2218.
PMID: 28573831
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant...
19.
Dotan G, Khetan V, Marshall J, Affel E, Armiger-George D, Naggert J, et al.
Ophthalmic Genet
. 2017 Jan;
38(5):440-445.
PMID: 28112973
Background: Alström syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. The aim of this study was to characterize morphological retinal changes in Alström patients using spectral-domain...
20.
Chakroun A, Ben Said M, Ennouri A, Achour I, Mnif M, Abid M, et al.
Eur J Med Genet
. 2016 Aug;
59(9):444-51.
PMID: 27523285
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively...