Stephanie Holler - Publications

Atlas of Cardiomyopathy Associated DES (Desmin) Mutations: Functional Insights Into the Critical 1B Domain.

Journal: Circulation. Genomic and precision medicine

Published: November 14, 2025

Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.

Journal: Circulation. Genomic and precision medicine

Published: April 23, 2025

Functional impact of the head domain variants of DES (Desmin) on filament assembly.

Journal: Genes & diseases

Published: August 18, 2023

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

Journal: Cells

Published: November 20, 2022

Overexpression of METAL TOLERANCE PROTEIN8 reveals new aspects of metal transport in Arabidopsis thaliana seeds.

Journal: Plant biology (Stuttgart, Germany)

Published: May 05, 2021

C-reactive protein in spinal surgery: more predictive than prehistoric.

Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society

Published: October 26, 2020

Identification and re-addressing of a transcriptionally permissive locus in the porcine genome.

Journal: Transgenic research

Published: July 17, 2015

Assessment of fetal cell chimerism in transgenic pig lines generated by Sleeping beauty transposition.

Journal: PloS one

Published: November 14, 2013

Ectopic expression of human telomerase RNA component results in increased telomerase activity and elongated telomeres in bovine blastocysts.

Journal: Biology of reproduction

Published: August 03, 2012

Assessment of fecundity and germ line transmission in two transgenic pig lines produced by sleeping beauty transposition.

Journal: Genes

Published: January 01, 2012