[HTML][HTML] Therapy approaches for Stargardt disease

E Piotter, ME McClements, RE MacLaren - Biomolecules, 2021 - mdpi.com
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease
is yet to achieve the same clinical trial success as has been achieved for other inherited …

Vitamin A, systemic T-cells, and the eye: Focus on degenerative retinal disease

AJ Thirunavukarasu, AC Ross, RM Gilbert - Frontiers in nutrition, 2022 - frontiersin.org
The first discovered vitamin, vitamin A, exists in a range of forms, primarily retinoids and
provitamin carotenoids. The bioactive forms of vitamin A, retinol and retinoic acid, have …

PROM1 and PROM2 expression differentially modulates clinical prognosis of cancer: a multiomics analysis

SK Saha, SMR Islam, KS Kwak, MS Rahman… - Cancer gene …, 2020 - nature.com
Abstract Prominin 1 (PROM1) is considered a biomarker for cancer stem cells, although its
biological role is unclear. Prominin 2 (PROM2) has also been associated with certain …

Clinical and molecular characterization of PROM1-related retinal degeneration

J Cehajic-Kapetanovic, J Birtel… - JAMA Network …, 2019 - jamanetwork.com
Importance ThePROM1gene, commonly associated with cone-rod dystrophies, may have
dominant or recessive phenotypes that influence disease onset and severity. Objective To …

Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation

M Moya-Molina, B Dorgau, E Flood, SJF Letteboer… - Cell death & …, 2024 - nature.com
Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is
highly regulated in tissue-and development-specific patterns. Retinal tissue exhibits one of …

[HTML][HTML] Stargardt disease

P Kohli, K Tripathy, K Kaur - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Stargardt Disease - StatPearls - NCBI Bookshelf US flag An official website of the United States
government Here's how you know NIH NLM Logo Access keys NCBI Homepage MyNCBI …

PIK3CA hotspot mutations p. H1047R and p. H1047L sensitize breast cancer cells to thymoquinone treatment by regulating the PI3K/Akt1 pathway

J Zhou, S Imani, MD Shasaltaneh, S Liu, T Lu… - Molecular Biology …, 2022 - Springer
Background Nigella sativa (N. sativa) exhibits anti-inflammatory, antioxidant, antidiabetic,
antimetastatic and antinociceptive effects and has been used to treat dozens of diseases …

Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms

LK Holtes, SE de Bruijn, FPM Cremers… - Progress in Retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known
to display both clinical and genetic heterogeneity. A further complexity is that for several IRD …

Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the …

K Fu**ami, A Oishi, L Yang, G Arno… - American Journal of …, 2020 - Wiley Online Library
Variants in the PROM1 gene are associated with cone (− rod) dystrophy, macular dystrophy,
and other phenotypes. We describe the clinical and genetic characteristics of 10 patients …

[HTML][HTML] USP8 Mutations Associated with Cushing's Disease Alter Protein Structure Dynamics

N Petukhova, A Poluzerova, D Bug… - International Journal of …, 2024 - mdpi.com
The adenomas in Cushing's disease frequently exhibit mutations in exon 14, within a
binding motif for the regulatory protein 14-3-3 located between the catalytic domain (DUB) …