Article

KMT2C and KMT2D regulate skeletal development through stage-specific epigenetic control of chondrogenesis

2025-07-02

Abstract excerpt

<h4> Abstract </h4> Many craniofacial disorders linked to mutations in enhancer-associated chromatin-modifying enzymes, including Kabuki syndrome (KS), present with a wide range of skeletal abnormalities. KS is a craniofacial development disorder characterized by mutations in KMT2D, a histone H3 lysine 4 (H3K4) methyltransferase. The KMT2D cellular origins and molecular pathways leading to skeletal deficits in K...

Topics

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

Identifiers and source

Literature Corpus work: 11e8d181-5a0d-5a84-879a-cc49bf12d933
DOI: 10.1101/2025.07.02.662767

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

KMT2C and KMT2D regulate skeletal development through stage-specific epigenetic control of chondrogenesisDOI 10.1101/2025.07.02.662767Read

Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome MiceSemantic proximity Read

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome miceSemantic proximity Read

The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.Semantic proximity Read

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.Semantic proximity Read

Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1Semantic proximity Read

KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.Semantic proximity Read

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.Semantic proximity Read

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.Semantic proximity Read

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.Semantic proximity Read

Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.Semantic proximity Read

Characterizing the molecular impact of<i>KMT2D</i>variants on the epigenetic and transcriptional landscapes in Kabuki SyndromeSemantic proximity Read

The H3K4 methyltransferase KMT2D is an essential cofactor for GATA1 at erythroid gene enhancersSemantic proximity Read