Article

<i>KAT6A</i> mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior <i>HOXC</i> cluster

2023-08-05

Abstract excerpt

<h4>ABSTRACT</h4> Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo truncating mutations in Lysine(K) acetyltransferase 6A ( KAT6A) . ARTHS is clinically heterogeneous and characterized by several common features including intellectual disability, developmental and speech delay, hypotonia and affects multiple organ systems. KAT6A is highly expressed in early development...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 57d06d62-9171-526c-8131-879e9b908faf
DOI: 10.1101/2023.08.03.550595

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>KAT6A</i> mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior <i>HOXC</i> clusterDOI 10.1101/2023.08.03.550595Read

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.Semantic proximity Read

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.Semantic proximity Read

KAT8 beyond Acetylation: A Survey of Its Epigenetic Regulation, Genetic Variability, and Implications for Human Health.Semantic proximity Read

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.Semantic proximity Read

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.Semantic proximity Read

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.Semantic proximity Read

<i>KAT6A</i> mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid modelSemantic proximity Read

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.Semantic proximity Read

The role of Kabuki Syndrome genes <i>KMT2D</i> and <i>KDM6A</i> in development: Analysis in Human sequencing data and compared to mice and zebrafishSemantic proximity Read

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.Semantic proximity Read

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Semantic proximity Read

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Semantic proximity Read