Results 131 to 140 of about 83,578 (286)

CircTP53/USP10/p53 signaling Axis as a Novel Regulator of Progression and Prognosis of Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang, Fen Chang, Zinan Li, Chengcheng Duan, Xiangkai Sun, Siyu Wang, Dongmin Wei, Wenming Li, Ye Qian, Shengda Cao, Juan Zhao, Dapeng Lei   +11 more
wiley   +1 more source

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Molecular Vision, 2019
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef   +14 more
doaj  

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

, 1990
Saïd Akli, Jamel Chelly, Christine Mézard, Sam Gandy, A Kahn, Livia Poënaru   +5 more
openalex   +1 more source

Advances in Single‐Cell Sequencing for Infectious Diseases: Progress and Perspectives

Advanced Science, EarlyView.
Single‐cell sequencing technologies uncover novel, unknown, and emergent features of many diseases. This review describes recent progress of single‐cell sequencing technologies and their applications in infectious diseases, summarizes the underlying commonalities of different infections and discusses future research directions, facilitating the ...
Mengyuan Lyu, Yang Liu, Jian Zhou, Hongli Lai, Hongxia Ruan, Dongsheng Wu, Shun Zhu, Xudong Zhou, Wananqi Ma, Yuchen Huang, Shuting Lei, Han Luo, Jie Chen, Binwu Ying   +13 more
wiley   +1 more source

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta. [PDF]

Bone Rep, 2021
El-Gazzar A, Mayr JA, Voraberger B, Brugger K, Blouin S, Tischlinger K, Duba HC, Prokisch H, Fratzl-Zelman N, Högler W.   +9 more
europepmc   +1 more source

Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.

, 1994
B. Hölzl, Reid Huber, Bernhard Paulweber, Josef R. Patsch, F. Sandhofer   +4 more
openalex   +1 more source

LEDGF Binds H3R17me2a Promoting De Novo Nucleotide Biosynthesis in SETD2 Mutant Clear Cell Renal Cell Carcinoma

Advanced Science, EarlyView.
In SETD2‐mutant ccRCC, the original LEDGF recognition of the H3K36me3 regulatory axis no longer exists. LEDGF interacts with CARM1‐dependent H3R17me2a regulating the transcription of key enzymes in the de novo synthesis pathway. The abnormally elevated LEDGF leads to the accumulation of purine nucleotides in SETD2‐mutant ccRCC, thereby satisfying the ...
Yuwei Zhang, Yuhua Zhou, Yuezhou Zhang, Jing Lv, Yang Shen, Dong Zhang, Bo Liu, Wei Zhao, Junyi Ju, Qingyi Zhu, Ke Wang, Ninghan Feng   +11 more
wiley   +1 more source

A novel A–>G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency.

Journal of Lipid Research, 1996
We have identified the underlying molecular defect in a patient with hepatic lipase (HL) deficiency presenting with hypertriglyceridemia and premature cardiovascular disease.
K Brand, K A Dugi, J D Brunzell, D N Nevin, S Santamarina-Fojo   +4 more
doaj  

Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report. [PDF]

Biomed Rep, 2022
Bogomilova Kamburova Z, Lubenova Popovska S, Stefanova Kovacheva K, Todorov Petrov K, Enkova Nikolova S.   +4 more
europepmc   +1 more source

Small RNA Toxin‐Assisted Evolution of GC‐Preferred ErCas12a for Enhanced Genome Targeting Range

Advanced Science, EarlyView.
ErCas12a is engineered to target GC‐rich PAMs using a small RNA toxin‐aided positive screening system. The resulting variant, enErCas12a, exhibits an expanded PAM profile and facilitates efficient gene editing in both bacterial and mammalian cells, while preserving high targeting specificity for both canonical and non‐canonical PAM targets.
Zehua Chen, Junyuan Xue, Ziying Wang, Jinyuan Sun, Yinglu Cui, Tong Zhu, Huaiyi Yang, Ming Li, Bian Wu   +8 more
wiley   +1 more source