Joseph Fogerty
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Explore the profile of Joseph Fogerty including associated specialties, affiliations and a list of published articles.
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20
Citations
421
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Recent Articles
1.
Wang J, Thomas H, Thompson R, Waldrep S, Fogerty J, Song P, et al.
Dis Model Mech
. 2022 Dec;
15(12).
PMID: 36533556
Meckel syndrome, nephronophthisis, Joubert syndrome and Bardet-Biedl syndrome are caused by mutations in proteins that localize to the ciliary transition zone (TZ). The phenotypically distinct syndromes suggest that these TZ...
2.
Fogerty J, Song P, Boyd P, Grabinski S, Hoang T, Reich A, et al.
J Neurosci
. 2022 Jun;
42(26):5144-5158.
PMID: 35672150
Photoreceptor degeneration leads to irreversible vision loss in humans with retinal dystrophies such as retinitis pigmentosa. Whereas photoreceptor loss is permanent in mammals, zebrafish possesses the ability to regenerate retinal...
3.
Banerjee S, Ranspach L, Luo X, Cianciolo L, Fogerty J, Perkins B, et al.
Sci Rep
. 2022 Mar;
12(1):3511.
PMID: 35241734
Genetic Leukoencephalopathies (gLEs) are heritable white matter disorders that cause progressive neurological abnormalities. A founder mutation in the human endolysosomal trafficking protein VPS11 has been identified in Ashkenazi Jewish patients...
4.
Gulluni F, Prever L, Li H, Krafcikova P, Corrado I, Lo W, et al.
Science
. 2021 Dec;
374(6573):eabk0410.
PMID: 34882480
Cytokinetic membrane abscission is a spatially and temporally regulated process that requires ESCRT (endosomal sorting complexes required for transport)–dependent control of membrane remodeling at the midbody, a subcellular organelle that...
5.
Fogerty J, Perkins B
Stem Cell Res
. 2021 Feb;
52:102243.
PMID: 33626495
CEP290 is a principal component of the primary cilium and is important for the proper function of ciliated cells. CEP290 mutations have been linked to numerous ciliopathies, with a wide...
6.
Song P, Fogerty J, Cianciolo L, Stupay R, Perkins B
Front Cell Dev Biol
. 2020 Dec;
8:578528.
PMID: 33324636
Bardet-Biedl syndrome (BBS) is a heterogeneous and pleiotropic autosomal recessive disorder characterized by obesity, retinal degeneration, polydactyly, renal dysfunction, and mental retardation. BBS results from defects in primary and sensory...
7.
Solanki A, Kondkar A, Fogerty J, Su Y, Kim S, Lipschutz J, et al.
Cells
. 2020 May;
9(5).
PMID: 32365517
Dietary vitamin A/all- retinol/ROL plays a critical role in human vision. ROL circulates bound to the plasma retinol-binding protein (RBP4) as RBP4-ROL. In the eye, the STRA6 membrane receptor binds...
8.
Fogerty J, Stepanyan R, Cianciolo L, Tooke B, Perkins B
Sci Rep
. 2019 Jul;
9(1):10302.
PMID: 31311951
microRNAs are important regulators of gene expression. In the retina, the mir-183/96/182 cluster is of particular interest due to its robust expression and studies in which loss of the cluster...
9.
Lessieur E, Song P, Nivar G, Piccillo E, Fogerty J, Rozic R, et al.
PLoS One
. 2019 Apr;
14(4):e0213960.
PMID: 30970040
Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl...
10.
Lessieur E, Fogerty J, Gaivin R, Song P, Perkins B
Invest Ophthalmol Vis Sci
. 2017 Jan;
58(1):448-460.
PMID: 28118669
Purpose: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney...