[HTML][HTML] Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
[HTML][HTML] PLEKHM2 deficiency induces impaired mitochondrial clearance and elevated ROS levels in human iPSC-derived cardiomyocytes
J Zhang, Y Peng, W Fu, R Wang, J Cao, S Li… - Cell Death …, 2024 - nature.com
Pleckstrin homology domain-containing family M member 2 (PLEKHM2) is an essential
adaptor for lysosomal trafficking and its homozygous truncation have been reported to cause …
adaptor for lysosomal trafficking and its homozygous truncation have been reported to cause …
[HTML][HTML] Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts
S Etzion, R Hijaze, L Segal, S Pilcha, D Masil, O Levi… - Scientific Reports, 2024 - nature.com
Plekhm2 is a protein regulating endosomal trafficking and lysosomal distribution. We
recently linked a recessive inherited mutation in PLEKHM2 to a familial form of dilated …
recently linked a recessive inherited mutation in PLEKHM2 to a familial form of dilated …
[HTML][HTML] Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
K Heliö, M Cicerchia, J Hathaway… - Frontiers in …, 2023 - frontiersin.org
Background Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to
heart transplantation. DCM is typically a monogenic disorder with autosomal dominant …
heart transplantation. DCM is typically a monogenic disorder with autosomal dominant …
Karakterisering av ukonvensjonelle T-celler i IBD ved RNA-sekvensering
MM Al-Anbary - 2023 - ntnuopen.ntnu.no
Inflammatorisk tarmsykdom (IBD) er en kompleks kronisk lidelse i mage-tarmkanalen med
usikker patofysiologi. IBD omfatter to idiopatiske lidelser; Ulcerøs kolitt (UC) og Crohns …
usikker patofysiologi. IBD omfatter to idiopatiske lidelser; Ulcerøs kolitt (UC) og Crohns …