Article

Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy

2025-12-04

Abstract excerpt

UNC45B, a UCS class myosin chaperone that facilitates Hsp90-myosin interactions, plays a crucial role in early myofibrillogenesis, though its specific function sustaining cardiac contractility remains obscure. Here we identified seven non-synonymous (p.L486F, p.C487Y, p.A492T, p.D496Y, p.R721Q, p.A780V and p.C786Y) and two synonymous (p.Y769= and p.A780=) variants in UNC45B through whole-exome sequencing (WES) an...

Topics

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

Identifiers and source

Literature Corpus work: a0d80f33-b309-5450-915d-a9c82c7df70a
DOI: 10.64898/2025.11.28.25340252

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated CardiomyopathyDOI 10.64898/2025.11.28.25340252Read

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.Semantic proximity Read

The UNC-45 myosin chaperone: from worms to flies to vertebrates.Semantic proximity Read

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.Semantic proximity Read

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.Semantic proximity Read

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.Semantic proximity Read

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.Semantic proximity Read

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.Semantic proximity Read

A loss-of-function mutation in the GTPase domain of <i>MFN2</i> , perverting mitochondrial dynamics, is associated with dilated cardiomyopathySemantic proximity Read

A novel c.515delC <i>HSPB8</i> -multisystem proteinopathy associated with inclusion body myopathy with cardiomyopathySemantic proximity Read

Cardiomyopathy-Associated Variants Alter the Structure and Function of the α-Actinin-2 Actin-Binding DomainSemantic proximity Read

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.Semantic proximity Read

Identification of Ultra-Rare Variants Associated with Dilated Cardiomyopathy: Insights into LMNA Pathogenesis and Prognostic Implications including E115M and R190WSemantic proximity Read