Results 101 to 110 of about 106,307 (216)

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

A Biofabricated Human Acinus‐on‐a‐Chip Unveils Mechanotransductive Drivers of Ventilator‐Induced Lung Injury via Decoupling Volutrauma and Barotrauma

Advanced Science, EarlyView.
This bioinspired acinus‐on‐a‐chip recapitulates VILI pathology, revealing that volutrauma drives P53/NF‐κB pathways while barotrauma triggers mitochondrial‐Wnt dysregulation. A fibrotic transitional cell cluster was identified. Pharmacological interventions targeting these pathways significantly ameliorated injury, establishing a mechanobiological ...
Heng Lu, Liansheng Liu, Zengyong Hu, Shuxian Fang, Ruohan Ren, Sidi Liu, Meng Zhao, Zhiting Luo, Ziyue Zhang, Wenlong Shao, Qian Liu   +10 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Assessing the effect of bovine MSTN variants on pre-mRNA splicing. [PDF]

Anim Genet
Gaiani N, Rocha D, Boulling A.
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

G-patch proteins: important regulators of pre-mRNA splicing and ribosome biogenesis. [PDF]

Front Cell Dev Biol
Karika LO, Cipakova I, Hronska L, Cipak L.   +3 more
europepmc   +1 more source

Pre-mRNA splicing and its regulation in microalgae and cyanobacteria. [PDF]

Adv Biotechnol (Singap)
Do S, Liu Y, Huynh H, Liu Y, Li W, Chen MX, Du ZY.   +6 more
europepmc   +1 more source

Prediction of alternative pre-mRNA splicing outcomes. [PDF]

Sci Rep, 2023
Najjar R, Mustelin T.
europepmc   +1 more source

Circular Photocaged mRNA for Light‐induced Late‐stage Activation of Translation

Angewandte Chemie International Edition, EarlyView.
A clickable photo‐caged 5′ cap (CyCliCap) allows to make Cyclic Click Cap‐containing mRNA (CyCliCap‐mRNA) which is remarkably stable and translationally muted until irradiated, allowing for late‐stage activation of translation in cells by light. ABSTRACT mRNA is a new medical modality as vaccine and raises hopes to become a protein replacement agent ...
Bayram Terzi, Greta Charlotte Dahm, Kristoffer Heintz, Martin Sumser, Yasuaki Kimura, Hiroshi Abe, Andrea Rentmeister   +6 more
wiley   +1 more source