Results 91 to 100 of about 4,066 (198)

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

ADAR2: Towards a Structural and Kinetic Understanding of RNA Editing [PDF]

Biophysical Journal, 2014
Adenosine Deaminases that Act on RNA (ADARs) are a small family of enzymes found in metazoans which edit pre-mRNAs by modifying the base adenosine to inosine. This editing results in translational mutations as inosine is interpreted as guanosine by translational machinery.
Kehr, Andrew D., Macbeth, Mark R., Rule, Gordon S.   +2 more
openaire   +1 more source

Metabolomic and Lipidomic Profiling Identifies The Role of the RNA Editing Pathway in Endometrial Carcinogenesis

Scientific Reports, 2017
Endometrial cancer (EC) remains the most common malignancy of the genital tract among women in developed countries. Although much research has been performed at genomic, transcriptomic and proteomic level, there is still a significant gap in the ...
Tatiana Altadill, Tyrone M. Dowdy, Kirandeep Gill, Armando Reques, Smrithi S. Menon, Cristian P. Moiola, Carlos Lopez-Gil, Eva Coll, Xavier Matias-Guiu, Silvia Cabrera, Angel Garcia, Jaume Reventos, Stephen W. Byers, Antonio Gil-Moreno, Amrita K. Cheema, Eva Colas   +15 more
doaj   +1 more source

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. [PDF]

PLoS ONE, 2014
Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar ...
Sabina Barresi, Sara Tomaselli, Alekos Athanasiadis, Federica Galeano, Franco Locatelli, Enrico Bertini, Ginevra Zanni, Angela Gallo   +7 more
doaj   +1 more source

Unveiling the Role of circRNAs in Pyroptotic Signalling: From Molecular Crosstalk to Disease Modulation

Journal of Cellular and Molecular Medicine, Volume 29, Issue 22, November 2025.
ABSTRACT Pyroptosis is a gasdermins‐dependent programmed cell death (PCD) characterised by progressive cellular swelling and plasma membrane rupture (PMR). This process releases intracellular contents that amplify inflammatory cascades and immune activation, involving the pathogenesis of various disorders such as tumours, heart and vascular diseases ...
Tengyu Jin, Guodong Xu, Wanru Zhou, Yige Shi, Hebo Wang   +4 more
wiley   +1 more source

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD [PDF]

Acta Neuropathologica, 2019
The hexanucleotide repeat expansion GGGGCC (G4C2)n in the C9orf72 gene is the most common genetic abnormality associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent findings suggest that dysfunction of nuclear-cytoplasmic trafficking could affect the transport of RNA binding proteins in C9orf72 ALS/FTD.
Stephen, Moore, Eric, Alsop, Ileana, Lorenzini, Alexander, Starr, Benjamin E, Rabichow, Emily, Mendez, Jennifer L, Levy, Camelia, Burciu, Rebecca, Reiman, Jeannie, Chew, Veronique V, Belzil, Dennis, W Dickson, Janice, Robertson, Kim A, Staats, Justin K, Ichida, Leonard, Petrucelli, Kendall, Van Keuren-Jensen, Rita, Sattler   +17 more
openaire   +2 more sources

Structure and Specific RNA Binding of ADAR2 Double-Stranded RNA Binding Motifs [PDF]

Structure, 2006
Adenosine deaminases that act on RNA (ADARs) site-selectively modify adenosines to inosines within RNA transcripts, thereby recoding genomic information. How ADARs select specific adenosine moieties for deamination is poorly understood. Here, we report NMR structures of the two double-stranded RNA binding motifs (dsRBMs) of rat ADAR2 and an NMR ...
Stefl, Richard, Xu, Ming, Skrisovska, Lenka, Emeson, Ronald B., Allain, Frédéric H.-T.   +4 more
openaire   +2 more sources

Nomogram Based on A‐To‐I RNA Editing for Predicting Overall Survival in Patients With Breast Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 18, September 2025.
ABSTRACT Adenosine‐to‐inosine RNA editing (ATIRE) is the most common type of RNA editing in higher eukaryotes. Many RNA editing events are associated with the occurrence and development of various tumours. Currently, several ATIRE sites have been used as predictors of cancer prognosis.
Yangyang Zhang, Jia Zhou, Hong Li, Dahai Chai, Bin Lian, Yaobang Liu, Li Guo, Jinping Li   +7 more
wiley   +1 more source

Petits ARN C/D et syndrome de Prader-Willi [PDF]

, 2005
International ...
Cavaillé, Jérôme, Vitali, Patrice
core   +2 more sources

Enhancing Specificity, Precision, Accessibility, Flexibility, and Safety to Overcome Traditional CRISPR/Cas Editing Challenges and Shape Future Innovations

Advanced Science, Volume 12, Issue 28, July 24, 2025.
CRISPR/Cas9, while transformative, faces challenges in specificity, precision, delivery, accessibility, flexibility, and safety. This review addresses these limitations by highlighting strategies to reduce off‐target effects, exploring HDR‐based and alternative editing approaches, and evaluating advanced delivery mechanisms.
Muna Alariqi, Mohamed Ramadan, Lu Yu, Fengjiao Hui, Amjad Hussain, Xiaofeng Zhou, Yu Yu, Xianlong Zhang, Shuangxia Jin   +8 more
wiley   +1 more source