Publications by authors named "Jess Thoene"

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Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.
Jess G Thoene

Mol Genet Metab Rep· June 2025

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ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Varsha Venkatarangan, Weichao Zhang, Xi Yang, Jess Thoene, Si Houn Hahn

J Clin Invest· October 2023

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In vitro activity of cysteamine against SARS-CoV-2 variants.
Jess Thoene, Robert F Gavin, Aaron Towne, Lauren Wattay, Maria Grazia Ferrari

Mol Genet Metab· October 2022

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Programmed Cell Death in Cystinosis.
Elizabeth G Ames, Jess G Thoene

Cells· February 2022

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Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea.
Jess G Thoene, Monte A DelMonte, Jodi Mullet

Mol Genet Metab Rep· June 2020

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Jess G Thoene

Brain· May 2017

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Introduction to "Extra-Renal Complications of Cystinosis".
Jess G Thoene

J Pediatr· April 2017

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Myopathy and Less Frequent Complications of Cystinosis.
Jess G Thoene

J Pediatr· April 2017

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Conclusions to the Supplement, "Extra-Renal Complications of Cystinosis".
Jess G Thoene

J Pediatr· April 2017

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Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Craig B Langman, Bruce A Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Jess G Thoene

Kidney Int· June 2016

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In vitro correction of disorders of lysosomal transport by microvesicles derived from baculovirus-infected Spodoptera cells.
Jess Thoene, Thomas Goss, Marc Witcher, Jodi Mullet, Francisca N'Kuli

Mol Genet Metab· May 2013

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Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Shane C Quinonez, Steven M Leber, Donna M Martin, Jess G Thoene, Jirair K Bedoyan

Pediatr Neurol· January 2013

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The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.
Christopher P Larsen, Patrick D Walker, Jess G Thoene

Mol Genet Metab· December 2010

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The redox status of cystinotic fibroblasts.
Victor Vitvitsky, Marc Witcher, Ruma Banerjee, Jess Thoene

Mol Genet Metab· April 2010

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Emergency preparedness for newborn screening and genetic services.
Kenneth A Pass, Jess Thoene, Michael S Watson

Genet Med· June 2009

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A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.
Jess G Thoene

Mol Genet Metab· December 2007

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Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.
Margaret A Park, Vojislav Pejovic, Kathryn G Kerisit, Sacha Junius, Jess G Thoene

J Am Soc Nephrol· November 2006

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Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita.
Hans C Andersson, T C Narumanchi, Amy Cunningham, Bruce Bowdish, Jess Thoene

Mol Genet Metab· May 2006

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Orphan drugs and orphan tests in the USA.
Jess G Thoene

Community Genet· May 2005

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Potential role of apoptosis in development of the cystinotic phenotype.
Margaret A Park, Jess G Thoene

Pediatr Nephrol· April 2005

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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Robert Kleta, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M Guay-Woodford, Jess G Thoene

Pediatr Nephrol· April 2005

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High protein diet mimics hypertyrosinemia in newborn infants.
Chulaluck Techakittiroj, Amy Cunningham, Pleasant F Hooper, Hans C Andersson, Jess Thoene

J Pediatr· February 2005

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Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
Jess G Thoene

Beijing Da Xue Xue Bao Yi Xue Ban· February 2005

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Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.
Amanda Helip-Wooley, Jess G Thoene

Exp Cell Res· January 2004

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