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Author Details

Val C Sheffield
Carver College of Medicine, University of Iowa
1980
354
98
PMIDPaper TitleJournal TitlePublished Year
36513220The BBSome regulates mitochondria dynamics and function.Mol Metab2023
33037407Gene therapy and gene correction: targets, progress, and challenges for treating human diseases.Gene Ther2022
35573180An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples.PeerJ2022
36700052Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.Mol Ther Nucleic Acids2022
36125046Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.Dis Model Mech2022
35882560Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons.J Neurosci2022
36323238Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.Cell Metab2022
33664503Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.Gene Ther2022
35129590Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms.Invest Ophthalmol Vis Sci2022
34929400Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.Prog Retin Eye Res2022
34174832Exome-based investigation of the genetic basis of human pigmentary glaucoma.BMC Genomics2021
33517424Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.Hum Mol Genet2021
33539326Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.JCI Insight2021
33843283Reply to Petersen et al.: An alternative hypothesis for why exposure to static magnetic and electric fields treats type 2 diabetes.Am J Physiol Endocrinol Metab2021
33843282Counterpoint: An alternative hypothesis for why exposure to static magnetic and electric fields treats type 2 diabetes.Am J Physiol Endocrinol Metab2021
33886537A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment.PLoS Genet2021
34383976Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.FASEB J2021
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
32032663Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper.Free Radic Biol Med2020
33027675Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.Cell Metab2020
33154371ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load.Nat Commun2020
33264599Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes.Cell Metab2020
32938345Topical Ocular Delivery of Nanocarriers: A Feasible Choice for Glaucoma Management.Curr Pharm Des2020
32503832Mutation in <i>CATIP</i> (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics.J Med Genet2020
32433491The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina.Sci Rep2020
30665891BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia.J Cell Sci2019
31072410Absence of BBSome function leads to astrocyte reactivity in the brain.Mol Brain2019
31127052The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors.Diabetes2019
31106594Development of a Molecularly Stable Gene Therapy Vector for the Treatment of <i>RPGR</i>-Associated X-Linked Retinitis Pigmentosa.Hum Gene Ther2019
30622176Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.Proc Natl Acad Sci U S A2019
29743238Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension.J Biol Chem2018
29971401A 30-Mile-per-Hour Headwind.JAMA2018
29971011Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (<i>Bbs1</i><sup>M<i>390</i>R/M<i>390</i>R</sup>): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation.Front Physiol2018
29444170Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.PLoS One2018
27170093Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.Bone2017
28384726Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma.Invest Ophthalmol Vis Sci2017
28237838Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.Mol Ther2017
29457131Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Med Res Arch2017
29049287BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.PLoS Genet2017
28973933CRISPR-Cas9-based treatment of myocilin-associated glaucoma.Proc Natl Acad Sci U S A2017
28753627Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.PLoS Genet2017
28536242Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.J Med Genet2017
28854578The molecular genetics of eye diseases.Hum Mol Genet2017
28559085Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Ophthalmology2017
26926121The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.PLoS Genet2016
27274060Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo.Proc Natl Acad Sci U S A2016
27060491A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.Hum Mutat2016
27008867Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Hum Mol Genet2016
27058611De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS Genet2016
25595567CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.J Biomed Inform2015
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Collaborators

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Carver College of Medicine, University of Iowa, USA Institute for Vision Research
Co-authored papers 169
Todd E Scheetz
the University of Iowa Carver College of Medicine
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Samuel G Jacobson
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Co-authored papers 25
Terry A Braun
University of Iowa
Co-authored papers 23
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The University of Iowa College of Nursing.
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Robert F Mullins
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Abbot F Clark
North Texas Eye Research Institute, University of North Texas Health Science Center
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Artur V Cideciyan
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Co-authored papers 14
Gerald A Fishman
University of Illinois at Chicago
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Arlene V Drack
University of Iowa Carver College of Medicine
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Joseph Piven
Oregon Health & Science University
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Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
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Medical College of Wisconsin
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Veronica J Vieland
The Ohio State University
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Jeaneen L Andorf
Institute for Vision Research, Carver College of Medicine, University of Iowa
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Andrew J Lotery
University of Southampton
Co-authored papers 9
David A Mackey
Lions Eye Institute, University of Western Australia
Co-authored papers 8
Jonathan L Haines
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 8
Budd A Tucker
the University of Iowa Carver College of Medicine
Co-authored papers 7
Byron L Lam
Bascom Palmer Eye Institute
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Adam P DeLuca
Institute for Vision Research, Carver College of Medicine, University of Iowa
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Alan F Wright
Co-authored papers 7
Julie M Gastier-Foster
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Lea K Davis
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Jamie E Craig
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Release 1.2