2023年6月15日 · KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can …

KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare disorder resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the …

Arboleda-Tham syndrome (ARTHS), [10] also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various …

2024年12月25日 · KAT6A (Lysine Acetyltransferase 6A) is a Protein Coding gene. Diseases associated with KAT6A include Arboleda-Tham Syndrome and Syndromic Intellectual …

What is KAT6A syndrome? KAT6A syndrome is a rare genetic condition that results from ‘spelling mistakes’ (aka mutations) in a gene called KAT6A. (The KAT6A gene is located on the short …

The KAT6 Foundation supports people and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments …

Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.

Studying KAT6A and KAT6B gene function will increase our overall knowledge of multiple systems in the body to unlock the possibility for greater health for all. Children with KAT6 …

2024年1月17日 · Here, we show that lysine acetyltransferase 6A (KAT6A), an epigenetic modulator that is clinically associated with autoimmunity, orchestrates the metabolic …

2018年8月1日 · Here we present highly potent, selective inhibitors of KAT6A and KAT6B, denoted WM-8014 and WM-1119. Biochemical and structural studies demonstrate that these …