Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Akira Otahara

Novel Uromodulin Mutation Causing Familial Juvenile Hyperuricemia Nephropathy to Lead Its Impaired Protein Stability and Cellular Apoptosis.

GOUT AND NUCLEIC ACID METABOLISM

English

Related publications

A Cluster of Mutations in the UMOD Gene Causes Familial Juvenile Hyperuricemic Nephropathy With Abnormal Expression of Uromodulin

Journal of the American Society of Nephrology : JASN

English

Familial Juvenile Hyperuricemic Nephropathy Type 1

English

First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused by a Novel De Novo Mutation (E197X) in UMOD

Journal of Molecular and Genetic Medicine

English

A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder

Annals of Paediatric Rheumatology

English

A Novel Mutation in Ywtd Domain of Lrp6 Impairs Endothelial Cell Function and Lead to Familial Coronary Artery Disease

Cardiovascular Medicine

English

Novel CDHR1 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

Novel C8ORF37 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

English

Role of ASXL1 Mutation in Impaired Hematopoiesis and Cellular Senescence

English