Associated Papers
Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank.
Patil S et al.
Stem Cell Research, 2026
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
The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Conformational plasticity links structural instability of NAA10F128I and NAA10F128L mutants to their catalytic deregulation.
Saha S et al.
Computational and Structural Biotechnology Journal, 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
Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.
Makwana R et al.
American Journal of Medical Genetics. Part A, 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
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.
Makwana R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
NAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report.
Li F et al.
Medicine, 2024
Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.
Patel R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Multiple impacts of Naa10p on cancer progression: Molecular functions and clinical prospects.
Ho KH et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2023
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
Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report.
Wei K et al.
Frontiers in Pediatrics, 2023
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.
Kweon HY et al.
Elife, 2021
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
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Maini I et al.
Genes, 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
NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex.
McTiernan N et al.
International Journal of Molecular Sciences, 2020
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
Bader I et al.
Bmc Medical Genetics, 2020
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
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
Ree R et al.
Bmc Medical Genetics, 2019
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
Yan H et al.
Bmc Medical Genetics, 2019
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 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
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.
Sidhu M et al.
Pediatric Neurology, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017