POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of cellular physiology"
DOI: 10.1002/jcp.31034
Abstract: The protection of telomere protein (POT1) is a telomere-binding protein and is an essential component of the six-membered shelterin complex, which is associated with the telomeres. POT1 directly binds to the 3' single-stranded telomeric overhang and prevents the… read more here.
Keywords: disease phenotypes; telomere length; mutations cause; pot1 mutations ... See more keywords
Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.862
Abstract: Variable disease phenotypes can be influenced by several factors such as allelic variation, environmental factors, genetic modifiers, and genotype–environment interaction. Herein to the best of our knowledge, this is the first report of the coexistence… read more here.
Keywords: korean family; disease phenotypes; differing disease; disease ... See more keywords
"Chronic obstructive pulmonary disease and phenotypes: a state-of-the-art."
Sign Up to like & getrecommendations! Published in 2019 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2019.10.006
Abstract: Chronic Obstructive Pulmonary Disease (COPD) is a heterogeneous and multisystemic disease with progressive increasing morbidity and mortality. COPD is now widely accepted as a heterogeneous condition with multiple phenotypes and endotypes. This review will discuss… read more here.
Keywords: chronic obstructive; disease phenotypes; obstructive pulmonary; disease ... See more keywords
Huntington’s disease phenotypes are improved via mTORC1 modulation by small molecule therapy
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0273710
Abstract: Huntington’s Disease (HD) is a dominantly inherited neurodegenerative disease for which the major causes of mortality are neurodegeneration-associated aspiration pneumonia followed by cardiac failure. mTORC1 pathway perturbations are present in HD models and human tissues.… read more here.
Keywords: small molecule; huntington disease; disease; disease phenotypes ... See more keywords
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24098417
Abstract: Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta catenin. PSEN1 has been extensively studied in neurodegeneration, and more… read more here.
Keywords: presenilin psen1; psen1; disease; alzheimer disease ... See more keywords