LMNAMutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Tero-Pekka Alastalo, Gun West, Song-Ping Li, Anni Keinänen, Mikko Helenius, Tiina Tyni, Risto Lapatto, Maila Turanlahti, Päivi Heikkilä, Helena Kääriäinen, Markku Laakso, Monika Mauermann, Harald Herrmann, Jaana Pihkala, Pekka Taimen

Human Mutation (2015)

Published on December 4, 2025

DOI: https://doi.org/10.1002/humu.22793

Core: Advanced Imaging Core

← Back to Publications

Genes associated with immune response are upregulated in clinically healthy skin of patients with gliptin-associated bullous pemphigoid

N. Kokkonen et al. • 2026 • Journal of Investigative Dermatology

Core:Finnish Functional Genomics Centre

Improving genotyped functional screening: A versatile closed-tube PCR for Illumina library generation reduces background sequences in multiplexed sequencing

S. Oksanen et al. • 2026 • SLAS Technology

Core:Finnish Functional Genomics Centre

Dynamic landscape of transcription initiation by yeast RNA polymerase I

O. Parilova et al. • 2026 • Nucleic Acids Research

Abstract RNA polymerase I (Pol I) synthesizes precursor ribosomal RNA, a key step in ribosome biogenesis. Elevated Pol I activity...

Core:Protein Structure and Chemistry

Staphylococcus aureus Augments Epithelial Skin Barrier Damage Through T Cell Activation in Cutaneous T Cell Lymphoma

M. Gluud et al. • 2026 • Allergy

ABSTRACT Background Skin barrier dysfunction is central to inflammation and susceptibility to infection in atopic dermatitis (AD). Cutaneous T‐cell lymphoma...

Core:Cytometry Core

Fast label-free live imaging with FlowVision reveals key principles of cancer cell arrest on endothelial monolayers

G. Follain et al. • 2026 • The EMBO Journal

Abstract The rapid, transient, and unpredictable nature of interactions between circulating cells and the endothelium challenges the investigation of these...

Core:Advanced Imaging Core

All user publications

LMNAMutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Genes associated with immune response are upregulated in clinically healthy skin of patients with gliptin-associated bullous pemphigoid

Improving genotyped functional screening: A versatile closed-tube PCR for Illumina library generation reduces background sequences in multiplexed sequencing

Dynamic landscape of transcription initiation by yeast RNA polymerase I

Staphylococcus aureus Augments Epithelial Skin Barrier Damage Through T Cell Activation in Cutaneous T Cell Lymphoma

Fast label-free live imaging with FlowVision reveals key principles of cancer cell arrest on endothelial monolayers

More User Publications

Enhanced phosphorylation of STAT‐1 is dependent on double‐stranded RNA–dependent protein kinase signaling in HLA–B27–expressing U937 monocytic cells

Detection of Ras nanoclustering-dependent homo-FRET using fluorescence anisotropy measurements

SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling