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Bleyer, Anthony

One or more keywords matched the following items that are connected to Bleyer, Anthony

Item Type	Name
Academic Article	Polycystic kidney disease.
Academic Article	Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein.
Academic Article	Genetic factors associated with gout and hyperuricemia.
Academic Article	Phosphorylation of S955 at the protein kinase A consensus promotes maturation of the alpha subunit of the colonic H+,K+ -ATPase.
Academic Article	Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Academic Article	Uromodulin biology and pathophysiology--an update.
Academic Article	Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene.
Academic Article	Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.
Academic Article	Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.
Academic Article	Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
Academic Article	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Concept	Frameshift Mutation
Academic Article	Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Academic Article	Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Academic Article	Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
Academic Article	Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Academic Article	Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Grant	Genetic Variation in Age of Onset of Kidney Failure in Uromodulin Kidney Disease
Academic Article	Autosomal Dominant Tubulointerstitial Kidney Disease.
Academic Article	Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Academic Article	Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.
Academic Article	Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.
Academic Article	Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Academic Article	Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

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