2024

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome

Mitochondrial respiration and glycolysis analyses of dermal fibroblasts from KAT6A patients and healthy individuals using Seahorse XFe96 Analyzer (awaiting publication)  

KAT6A deficiency impairs cognitive functions through suppressing RSPO2/Wnt signaling in hippocampal CA3

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends

2023

A case of KAT6A syndrome with a newly discovered mutation in theKAT6A gene, mainly manifested as bone marrow failure syndrome

Epigenetics of cognition and behavior: Insights from Mendelian disorders of epigenetic machinery

KAT6A mutations drive transcriptional dysregulation of cell cycle and autism risk genes in an Arboleda-Tham syndrome cerebral organoid model (Preprint)
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster (Preprint)
Luteolin promotes KAT6A gene expression
The omics era: A nexus of untapped potential for Mendelian chromatinopathies
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis

2022

Novel Diagnostic DNA Methylation Episignatures Expand and Refine the Epigenetic Landscapes of Mendelian Disorders
Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome

Genetic Aetiologies for Childhood Speech Disorder: Novel Pathways Co-expressed During Brain Development

Speech and Language Development and Genotype–Phenotype Correlation in 49 Individuals with KAT6A Syndrome

The Role of Histone Modifications: From Neurodevelopment to Neurodiseases

The Histone Acetyltransferase KAT6A is Recruited to Unmethylated CpG islands Via a DNA Binding Winged Helix Domain

Epilepsy in KAT6A Syndrome: Description of Two Individuals and Revision of the Literature

Identification of a Novel KAT6A Variant in an Infant Presenting with Facial Dysmorphism and Developmental Delay: A Case Report and Literature Review
Functional Correlation of Genome-wide DNA Methylation Profiles in Genetic Neurodevelopmental Disorders
Analysis of a Child with Mental Retardation Due to a De Novo Variant of the KAT6A Gene

2021

First Case of Pan-suture Craniosynostosis Due to De Novo Mosaic KAT6A Mutation

Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders

KAT6A Regulates Stemness of Aging Bone Marrow-Derived Mesenchymal Stem Cells Through Nrf2/ARE Signaling Pathway

Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

2020

Deficient Histone H3 Propionylation by BRPF1-KAT6 Complexes in Neurodevelopmental Disorders and Cancer

Diagnosis of Arboleda-Tham Syndrome by Whole Genome Sequencing in an Asian Boy with Severe Developmental Delay

Expanding the Genetic Landscape of Rett Syndrome to Include Lysine Acetyltransferase 6A (KAT6A)

Five New Cases of Syndromic Intellectual Disability Due to KAT6A Mutations: Widening the Molecular and Clinical Spectrum

The Key Roles of the Lysine Acetyltransferases KAT6A and KAT6B in Physiology and Pathology

 

2018

A KAT6A Variant in a Family with Autosomal Dominantly Inherited Microcephaly and Developmental Delay

KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants

Revealing the Protein Propionylation Activity of the Histone Acetyltransferase MOF (males absent on the first)

 

2017

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome by Exome Sequencing in 20 Patients

Food Allergy in a Child with De Novo KAT6A Mutation

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

Three Brothers with a Nonsense Mutation in KAT6A Caused by Parental Germline Mosaicism

Variants in KAT6A and Pituitary Anomalies

 

2016

Whole Exome Sequencing Reveals De Novo Pathogenic Variants in KAT6A as a Cause of a Neurodevelopmental Disorder

 

2015

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

MicroRNA 665 Regulates Dentinogenesis Through MicroRNA-Mediated Silencing and Epigenetic Mechanisms

 

2014

The Double PHD Finger Domain of MOZ/MYST3 Induces α-helical Structure of the Histone H3 Tail to Facilitate Acetylation and Methylation Sampling and Modification