Brian D Perkins
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Explore the profile of Brian D Perkins including associated specialties, affiliations and a list of published articles.
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44
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761
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Recent Articles
11.
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...
12.
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...
13.
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...
14.
Zhu L, Chen L, Yan L, Perkins B, Li S, Li B, et al.
Front Cell Neurosci
. 2019 Apr;
13:81.
PMID: 30949029
Joubert syndrome (JBTS) is an inherited autosomal recessive disorder associated with cerebellum and brainstem malformation and can be caused by mutations in the Abelson helper integration site-1 (AHI1) gene. Although...
15.
Song P, Perkins B
Gene Expr Patterns
. 2018 Jul;
29:82-87.
PMID: 30009987
Members of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is...
16.
Miller A, Howe H, Krause B, Friedle S, Banks M, Perkins B, et al.
J Neurosci
. 2018 May;
38(22):5220-5236.
PMID: 29739870
To guide behavior, sensory systems detect the onset and offset of stimuli and process these distinct inputs via parallel pathways. In the retina, this strategy is implemented by splitting neural...
17.
Radhakrishnan U, Alsrhani A, Sundaramoorthi H, Khandekar G, Kashyap M, Fuchs J, et al.
Platelets
. 2017 Nov;
29(8):811-820.
PMID: 29125377
Intraflagellar transport (IFT) proteins are vital for the genesis and maintenance of cilia. Our identification of ift122 transcripts in zebrafish thrombocytes that lack primary cilia was unexpected. IFT proteins serve...
18.
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...
19.
Bell B, Yuan A, Dicicco R, Fogerty J, Lessieur E, Perkins B
Exp Eye Res
. 2016 Oct;
153:65-78.
PMID: 27720860
Non-invasive imaging is an invaluable diagnostic tool in ophthalmology. Two imaging devices, the scanning laser ophthalmoscope (SLO) and spectral domain optical coherence tomography (SDOCT), emerged from the clinical realm to...
20.
Song P, Dudinsky L, Fogerty J, Gaivin R, Perkins B
Invest Ophthalmol Vis Sci
. 2016 Aug;
57(10):4517-26.
PMID: 27571019
Purpose: Mutations in the gene ARL13B cause the classical form of Joubert syndrome, an autosomal recessive ciliopathy with variable degrees of retinal degeneration. As second-site modifier alleles can contribute to...