Nemaline myopathies: a current view

CA Sewry, JM Laitila, C Wallgren-Pettersson - Journal of Muscle Research …, 2019 - Springer
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de
novo, dominantly or recessively inherited mutations in at least twelve genes. The genes …

Genotype–Phenotype relationships in the context of transcriptional adaptation and genetic robustness

G Jakutis, DYR Stainier - Annual review of genetics, 2021 - annualreviews.org
Genetic manipulations with a robust and predictable outcome are critical to investigate gene
function, as well as for therapeutic genome engineering. For many years, knockdown …

Transcriptional adaptation: a mechanism underlying genetic robustness

TE Sztal, DYR Stainier - Development, 2020 - journals.biologists.com
Mutations play a crucial role in evolution as they provide the genetic variation that allows
evolutionary change. Although some mutations in regulatory elements or coding regions can …

On zebrafish disease models and matters of the heart

P Giardoglou, D Beis - Biomedicines, 2019 - mdpi.com
Coronary artery disease (CAD) is the leading form of cardiovascular disease (CVD), which is
the primary cause of mortality worldwide. It is a complex disease with genetic and …

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

E Buglo, E Sarmiento, NB Martuscelli, DW Sant… - PloS one, 2020 - journals.plos.org
A phenomenon of genetic compensation is commonly observed when an organism with a
disease-bearing mutation shows incomplete penetrance of the disease phenotype. Such …

Transcriptional adaptation in Caenorhabditis elegans

V Serobyan, Z Kontarakis, MA El-Brolosy, JM Welker… - Elife, 2020 - elifesciences.org
Transcriptional adaptation is a recently described phenomenon by which a mutation in one
gene leads to the transcriptional modulation of related genes, termed adapting genes. At the …

[HTML][HTML] The recent advances and future perspectives of genetic compensation studies in the zebrafish model

MA Rouf, L Wen, Y Mahendra, J Wang, K Zhang… - Genes & …, 2023 - Elsevier
Genetic compensation is a remarkable biological concept to explain the genetic robustness
in an organism to maintain its fitness and viability if there is a disruption occurred in the …

Genetics in light of transcriptional adaptation

Z Kontarakis, DYR Stainier - Trends in Genetics, 2020 - cell.com
Genetics has recently benefited from the genome engineering revolution: genes can be
knocked out, knocked down, or activated more easily than ever before. This range of genetic …

A defective mechanosensing pathway affects fibroblast-to-myofibroblast transition in the old male mouse heart

A Angelini, JA Trial, AB Saltzman, A Malovannaya… - Iscience, 2023 - cell.com
The cardiac fibroblast interacts with an extracellular matrix (ECM), enabling myofibroblast
maturation via a process called mechanosensing. Although in the aging male heart, ECM is …

Genome editing reveals reproductive and developmental dependencies on specific types of vitellogenin in zebrafish (Danio rerio)

O Yilmaz, A Patinote, T Nguyen, E Com… - Molecular …, 2019 - Wiley Online Library
Oviparous vertebrates produce multiple forms of vitellogenin (Vtg), the major source of yolk
nutrients, but little is known about their individual contributions to reproduction and …