Associated Papers
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Bottillo I et al.
American Journal of Medical Genetics. Part A, 2025
NAA10 (N-Alpha-Acetyltransferase 10): A Multifunctional Regulator in Development, Disease, and Cancer.
Yang ZQ et al.
Cells, 2025
Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.
Patel R et al.
American Journal of Medical Genetics. Part A, 2024
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.
Wesely J et al.
Biorxiv : the Preprint Server for Biology, 2024
A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
Wojciechowska K et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2024
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L et al.
American Journal of Medical Genetics. Part A, 2021
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
McTiernan N et al.
European Journal of Human Genetics : Ejhg, 2021
A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.
Shishido A et al.
Human Genome Variation, 2020
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H et al.
Human Molecular Genetics, 2019
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Johnston JJ et al.
Journal of Medical Genetics, 2019
Ocular Manifestations of the NAA10-Related Syndrome.
Gupta AS et al.
Case Reports in Genetics, 2019
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve SI et al.
European Journal of Human Genetics : Ejhg, 2018
A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome).
Valentine V et al.
Seizure, 2018
Versatility of ARD1/NAA10-mediated protein lysine acetylation.
Vo TTL et al.
Experimental & Molecular Medicine, 2018
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
McTiernan N et al.
Bmc Medical Genetics, 2018
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Saunier C et al.
Human Mutation, 2016
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2015
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T et al.
Journal of Medical Genetics, 2014