Results 161 to 170 of about 30,223 (276)

Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration. [PDF]

Invest Ophthalmol Vis Sci
Li W, Li Y, Zhou Y, Liu Y, Liu H, Wei X, Sun Z, Han X, Zou X, Li H, Sui R.   +10 more
europepmc   +1 more source

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002 [PDF]

, 2012
Rita D. Brandão, Demis Tserpelis, E. Gómez, Marinus J. Blok   +3 more
openalex   +1 more source

Effusion‐Dominant Pulmonary Sarcomatoid Carcinoma Without a Primary Mass: A Case Report

Respirology Case Reports, Volume 14, Issue 1, January 2026.
We describe a patient with high‐grade sarcomatoid carcinoma presenting as malignant pleural effusion without a primary mass. This case highlights the diagnostic challenges, aggressive clinical course, and importance of early biopsy. We also review the limited literature describing similar presentations.
Sze Kye Teoh, Yen Shen Wong, Yiet Fai Ng, Yu Wei Cheah, Suhashini Ganapaty, Saiful Safuan Md Sani   +5 more
wiley   +1 more source

PPMO-based exon skipping therapy improves respiratory function in the <i>mdx</i> mouse model of Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
Biswas DD, Rodriguez MYH, El Haddad L, Hoffmann G, Copson E, Mayman S, Jose J, Lang S, Chen O, Dela Pena A, Levin E, Abdelbarr M, Slyne A, ElMallah MK.   +13 more
europepmc   +1 more source

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant

, 2018
Takumi Nakamura, Kotori Jimbo, Kazuo Nakajima, Takashi Tsuboi, Tadafumi Kato   +4 more
openalex   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin. [PDF]

Biomol Ther (Seoul), 2023
Kim JY, Han SY, Sung K, Seo JY, Myung CH, Jo CS, Yoon JH, Park JY, Hwang JS.   +8 more
europepmc   +1 more source

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping [PDF]

, 2001
Claudia Di Blasi
openalex   +1 more source

PBX1 Improves Cognition and Reduces Amyloid‐β Pathology in APP/PS1 Mice by Transcriptionally Activating the CRTC2–CREB Pathway

Aging Cell, Volume 25, Issue 1, January 2026.
We found that the transcription factor PBX1 is markedly downregulated in patients with Alzheimer's disease and in disease models. Restoring PBX1 reduces Aβ pathology and rescues cognitive deficits. Mechanistically, PBX1 directly activates the transcription of CRTC2 and enhances p‐CREB signaling, thereby conferring neuroprotection.
Zinan Liu, Xiangyuan Meng, Rifeng Lu, Xiaoting Meng, Siyao Li, Yujie Wang, Xinpeng Liu, Xiaomei Liu, Jinyu Liu   +8 more
wiley   +1 more source

CRISPR-directed exon skipping; friend or foe (opportunity or warning sign)? [PDF]

Mol Ther Nucleic Acids
Banas KH, Kmiec EB.
europepmc   +1 more source