Publications by authors named "Jess G Thoene"

16Publications

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea.

Mol Genet Metab Rep 2020 Jun 7;23:100587. Epub 2020 Apr 7.

Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138922PMC
June 2020

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

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

Authors:
Jess G Thoene

J Pediatr 2017 04;183S:S24-S25

University of Michigan School of Medicine, Ann Arbor, MI. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.12.057DOI Listing
April 2017

Myopathy and Less Frequent Complications of Cystinosis.

Authors:
Jess G Thoene

J Pediatr 2017 04;183S:S22-S23

University of Michigan School of Medicine, Ann Arbor, MI. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223476163155
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http://dx.doi.org/10.1016/j.jpeds.2016.12.056DOI Listing
April 2017

Introduction to "Extra-Renal Complications of Cystinosis".

Authors:
Jess G Thoene

J Pediatr 2017 04;183S:S1

University of Michigan School of Medicine, Ann Arbor, MI. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223476163154
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http://dx.doi.org/10.1016/j.jpeds.2016.12.051DOI Listing
April 2017

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Kidney Int 2016 06;89(6):1192-203

Department of Pediatric Nephrology, University Hospitals Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.01.033DOI Listing
June 2016

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Pediatr Neurol 2013 Jan;48(1):67-72

Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535688PMC
January 2013

The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.

Mol Genet Metab 2010 Dec 20;101(4):417-20. Epub 2010 Aug 20.

Nephropathology Associates, Little Rock, AR 72211, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.08.015DOI Listing
December 2010

A review of the role of enhanced apoptosis in the pathophysiology of cystinosis.

Authors:
Jess G Thoene

Mol Genet Metab 2007 Dec 28;92(4):292-8. Epub 2007 Aug 28.

Division of Pediatric Genetics, University of Michigan, Ann Arbor, MI 48109-0718, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.07.008DOI Listing
December 2007

Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cdelta.

J Am Soc Nephrol 2006 Nov 4;17(11):3167-75. Epub 2006 Oct 4.

The Hayward Genetics Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA.

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https://cystinosis.org/images/research/updates/CRN_Research_
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http://www.jasn.org/cgi/doi/10.1681/ASN.2006050474
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http://dx.doi.org/10.1681/ASN.2006050474DOI Listing
November 2006

Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.

Authors:
Jess G Thoene

Beijing Da Xue Xue Bao Yi Xue Ban 2005 Feb;37(1):8-9

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA.

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February 2005

Orphan drugs and orphan tests in the USA.

Authors:
Jess G Thoene

Community Genet 2004 ;7(4):169-72

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA.

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http://dx.doi.org/10.1159/000082255DOI Listing
May 2005

Potential role of apoptosis in development of the cystinotic phenotype.

Pediatr Nephrol 2005 Apr 28;20(4):441-6. Epub 2004 Dec 28.

Hayward Genetic Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA.

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http://dx.doi.org/10.1007/s00467-004-1712-9DOI Listing
April 2005

Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.

Exp Cell Res 2004 Jan;292(1):89-100

Hayward Human Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA.

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http://dx.doi.org/10.1016/j.yexcr.2003.09.003DOI Listing
January 2004

Cystinosis.

N Engl J Med 2002 Jul;347(2):111-21

Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md 20892-1830, USA.

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http://dx.doi.org/10.1056/NEJMra020552DOI Listing
July 2002