Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
Liang Y et al.
Frontiers in Neurology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.
Edelman WC et al.
Parkinsonism & Related Disorders, 2022
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T et al.
The Journal of Clinical Investigation, 2019
Genome annotation for clinical genomic diagnostics: strengths and weaknesses.
Steward CA et al.
Genome Medicine, 2017
Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.
Colacurcio DJ et al.
Ageing Research Reviews, 2016
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
Gupta HV et al.
Parkinsonism & Related Disorders, 2015
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O et al.
Human Molecular Genetics, 2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
The role of individual domains and the significance of shedding of ATP6AP2/(pro)renin receptor in vacuolar H(+)-ATPase biogenesis.
Kinouchi K et al.
Plos One, 2013
Association of (pro)renin receptor gene polymorphisms with lacunar infarction and left ventricular hypertrophy in Japanese women: the Ohasama study.
Hirose T et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2011
A role of the (pro)renin receptor in neuronal cell differentiation.
Contrepas A et al.
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2009
A missense mutation in CASK causes FG syndrome in an Italian family.
Piluso G et al.
American Journal of Human Genetics, 2009
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
Ramser J et al.
Human Molecular Genetics, 2005