LMNA p.Arg624His Variant Reduces Lamin Expression at mRNA Level: Elucidating Molecular Pathways toward Cardiac Involvement in Laminopathies
J Cardiovasc Transl Res
.
2024 Apr 17.
doi: 10.1007/s12265-024-10512-y.
Online ahead of print.
Authors
Isabel Jimenez-Alcantara
1
,
Estefania Lozano-Velasco
2
,
Sheila Caño-Carrillo
2
,
Juan Manuel Castillo-Casas
2
,
Ana Belen Garcia-Ruano
3
,
Jose Maria Segura-Aumente
1
,
Jose Angel Urbano-Moral
#
4
,
Diego Franco
#
2
Affiliations
1
Inherited Cardiac Conditions & Myocardial Diseases Unit; Cardiology Department, University Hospital Jaen, 10 Ejercito Espanol Ave, 23007, Jaen, Spain.
2
Department of Experimental Biology, University of Jaen, Jaen, Spain.
3
Inherited Cardiac Conditions & Myocardial Diseases Unit; Genetics Section, Clinical Analysis Department, University Hospital Jaen, Jaen, Spain.
4
Inherited Cardiac Conditions & Myocardial Diseases Unit; Cardiology Department, University Hospital Jaen, 10 Ejercito Espanol Ave, 23007, Jaen, Spain. jaurbanomoral@gmail.com.
#
Contributed equally.
PMID:
38630155
DOI:
10.1007/s12265-024-10512-y
No abstract available
Keywords:
Dilated Cardiomyopathy; Genetics; LMNA; Variant reclassification; qRT-PCR.