Results 91 to 100 of about 1,384,640 (333)

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing [PDF]

, 2023
Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, Adnan Ullah, Faisal Usman, Abdur Rashid, Bilal Khan, Mathieu Quinodoz, Muhammad Ansar, Carlo Rivolta   +9 more
openalex   +1 more source

RNA splicing dysregulation and the hallmarks of cancer

Nature Reviews. Cancer, 2023
R. Bradley, Olga Anczuków
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Cancer-associated snaR-A noncoding RNA interacts with core splicing machinery and disrupts processing of mRNA subpopulations

Nature Communications
Expansion of RNA polymerase III (Pol III) activity in cancer can activate the transcription of typically silent small RNA genes, including snaR-A (small NF90-associated RNA isoform A), a hominid-specific noncoding RNA that promotes cell proliferation ...
Sihang Zhou, Simon Lizarazo, Sandip Chorghade, Leela Mouli, Ruiying Cheng, Rajendra K C, Auinash Kalsotra, Kevin Van Bortle   +7 more
doaj   +1 more source

SF3B2-mediated RNA splicing drives human prostate cancer progression.

Cancer Research, 2019
Androgen receptor splice variant-7 (AR-V7) is a constitutively active AR variant implicated in castration-resistant prostate cancers. Here, we show that the RNA splicing factor SF3B2, identified by in silico and CRISPR/Cas9 analyses, is a critical ...
Norihiko Kawamura, Keisuke Nimura, K. Saga, Airi Ishibashi, Koji Kitamura, Hiromichi Nagano, Y. Yoshikawa, Kyoso Ishida, N. Nonomura, M. Arisawa, Jun Luo, Y. Kaneda   +11 more
semanticscholar   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Splicing of Messenger RNA Precursors

Science, 1987
A general mechanism for the splicing of nuclear messenger RNA precursors in eukaryotic cells has been widely accepted. This mechanism, which generates lariat RNAs possessing a branch site, seems related to the RNA-catalyzed reactions of self-splicing introns.
Sharp, P. A., Konarska, M. M., Grabowski, P. J., Lamond, A. I., Marciniak, R., Seiler, S. R.   +5 more
openaire   +6 more sources

Mutation of CMTR2 in Lung Adenocarcinoma Alters RNA Alternative Splicing and Reveals Therapeutic Vulnerabilities

Nature Communications
RNA splicing dysregulation has emerged as a hallmark of cancer and a promising therapeutic target; however, its full landscape in human solid cancer remains poorly characterized.
Shigenari Nukaga, Kouya Shiraishi, Kenta Hamabe, Akifumi Mochizuki, Yu Hamaguchi, Emi Ogawa, Nguyen Thai Le, Yoko Shimada, Hanako Ono, Hitomi Nishinakamura, Yoshihisa Kobayashi, Junko Hamamoto, Ayako Ui, Mitsugu Araki, Yukari Sagae, Keiko Ohgino, Kai Sugihara, Satoshi Endo, Jun Miyakoshi, Yuichi Shiraishi, Hiroyuki Yasuda, Yasushi Okuno, Tatsuya Yoshida, Yasushi Goto, Yuichiro Ohe, Shun-Ichi Watanabe, Yasushi Yatabe, Hiroyoshi Nishikawa, Ryuji Hamamoto, Takashi Kohno, Takashi Nakaoku   +30 more
doaj   +1 more source

Complexity and graded regulation of neuronal cell-type–specific alternative splicing revealed by single-cell RNA sequencing

, 2021
Huijuan Feng, Daniel F. Moakley, Shuonan Chen, Melissa G. McKenzie, Vilas Menon, Chaolin Zhang   +5 more
openalex   +2 more sources

Lithium‐Charged Gold Nanoparticles: A New Powerful Tool for Lithium Delivery and Modulation of Glycogen Synthase Kinase 3 Activity

Advanced Materials, EarlyView.
This study introduces glutathione‐stabilized gold nanoparticles for targeted lithium delivery (LiG‐AuNPs), enabling the controlled modulation of Glycogen Synthase Kinase‐3 (GSK‐3β). These non‐toxic, 2‐nm particles release lithium intracellularly, effectively inhibiting GSK‐3β in the brain without significant plasma lithium alterations.
Antonio Buonerba, Giulia Puliatti, Domenica Donatella Li Puma, Bruno Bandiera, Beatrice Cannata, Maria Elena Marcocci, Nicolina Castagno, Irene Contento, Salvatore Impemba, Mariarosa Scognamiglio, Rocco Di Girolamo, Vincenzo Naddeo, Patrizia Canton, Carmine Capacchione, Laura Sposito, Martina Albini, Francesco Pastore, Silvia Baroni, Alfonso Grassi, Claudio Grassi, Roberto Piacentini   +20 more
wiley   +1 more source