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[HTML][HTML] Therapy approaches for Stargardt disease
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 …
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
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 …
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
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 …
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 …
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 …
highly regulated in tissue-and development-specific patterns. Retinal tissue exhibits one of …
[HTML][HTML] Stargardt disease
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 …
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
Background Nigella sativa (N. sativa) exhibits anti-inflammatory, antioxidant, antidiabetic,
antimetastatic and antinociceptive effects and has been used to treat dozens of diseases …
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 …
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 …
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 …
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) …
binding motif for the regulatory protein 14-3-3 located between the catalytic domain (DUB) …