Results 151 to 160 of about 139,231 (236)

SOX2 interacts with hnRNPK to modulate alternative splicing in mouse embryonic stem cells

Cell & Bioscience
Background SOX2 is a determinant transcription factor that governs the balance between stemness and differentiation by influencing transcription and splicing programs. The role of SOX2 is intricately shaped by its interactions with specific partners.
Yanlan Huang, Yuxuan Liu, Mingyi Pu, Yuli Zhang, Qiang Cao, Senru Li, Yuanjie Wei, Linlin Hou   +7 more
doaj   +1 more source

Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila.

PLoS Genetics, 2011
Spinal muscular atrophy is a severe neurogenic disease that is caused by mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein is required for the assembly of small nuclear ribonucleoproteins and a dramatic reduction of the protein ...
Stuart J Grice, Ji-Long Liu
doaj   +1 more source

Structural characterization of the D290V mutation site in hnRNPA2 low-complexity-domain polymers. [PDF]

, 2018
Human genetic studies have given evidence of familial, disease-causing mutations in the analogous amino acid residue shared by three related RNA binding proteins causative of three neurological diseases. Alteration of aspartic acid residue 290 of hnRNPA2
Kato, Masato, McKnight, Steven L, Murray, Dylan T, Tycko, Robert, Xiang, Siheng, Zhou, Xiaoming   +5 more
core  

CRISPR/Cas9‐edited tumor‐associated immune cells in cancer immunotherapy

VIEW, EarlyView.
Abstract Immuno‐oncology represents an emerging field that has significantly transformed tumor therapeutics, with immune cells serving as the cellular foundations of cancer immunotherapy. Due to its high efficiency and sensitivity, CRISPR/Cas9 genome editing is a highly promising technique for precise and rapid gene modification.
Yuhui Ma, Junxin Chen, Yuan Du, Zhihao Cao, Weizhi Ji, Yuyu Niu, Zebin Yang   +6 more
wiley   +1 more source

Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder

Neural Regeneration Research
The recent identification of a neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) has resulted in an increased interest in GEMIN5, a multifunction RNA-binding protein.
Charles H Nelson, Udai B Pandey
doaj   +1 more source

GEMINs: Potential Therapeutic Targets for Spinal Muscular Atrophy?

Frontiers in Neuroscience, 2014
The motor neuron degenerative disease spinal muscular atrophy (SMA) remains one of the most frequently inherited causes of infant mortality. Afflicted patients loose the survival motor neuron 1 (SMN1) gene but retain one or more copies of SMN2, a ...
Rebecca eBorg, Ruben J Cauchi
doaj   +1 more source

Single‐cell spatial transcriptomic sequencing and machine learning models uncover molecular mechanisms and diagnostic biomarkers of Peyronie's disease formation in rats

VIEW, EarlyView.
Peyronie's disease (PD) is a common male reproductive system disorder. The exact etiology of PD remains unclear. This study aimed to investigate molecular and cellular changes in PD using single‐cell spatial transcriptomics. Abstract Peyronie's disease (PD), commonly known as penile induration, is a prevalent male reproductive system disorder with ...
Keyuan Lou, Qiancheng Mao, Junpeng Chi, Jiankun Zhang, Hao Guo, Jitao Wu, Yuanshan Cui   +6 more
wiley   +1 more source

Characterization of the Rbfox3‐IRES‐iCre knock‐in mouse: Revealing gene recombination activity in neural and non‐neural peripheral tissues

FASEB BioAdvances, Volume 7, Issue 4, April 2025.
This study developed an Rbfox3‐iCre knock‐in mouse model to explore Cre‐loxP‐based genetic recombination. Gene recombination was observed in the central nervous system and heart during embryonic development and in neurons, but not glial or NeuN‐negative neural cells, in the adult brain.
Shiho Nishino, Misuzu Hashimoto, Swapna Paramanya Biswas, Natsuki Mikami, Yoshikazu Hasegawa, Hayate Suzuki, Woojin Kang, Seiya Mizuno, Kazuya Murata   +8 more
wiley   +1 more source

Impact of Acute Endurance Exercise on Alternative Splicing in Skeletal Muscle

FASEB BioAdvances, EarlyView.
Current model on the effects of acute endurance exercise on the AS regulatory mechanism with key trans‐factors/RBPs (e.g., hnRNP‐A1, ‐A3, and TIA1). ABSTRACT Alternative splicing (AS) is a highly conserved posttranscriptional mechanism, generating mRNA variants to diversify the proteome.
Alexander Ahn, Jeongjin J. Kim, Aaron L. Slusher, Jeffrey Y. Ying, Eric Y. Zhang, Andrew T. Ludlow   +5 more
wiley   +1 more source

UsnRNP trafficking is regulated by stress granules and compromised by mutant ALS proteins

Neurobiology of Disease, 2020
Activation of the integrated stress response (ISR), alterations in nucleo-cytoplasmic (N/C) transport and changes in alternative splicing regulation are all common traits of the pathogenesis of Amyotrophic Lateral Sclerosis (ALS).
Simona Rossi, Valentina Rompietti, Ylenia Antonucci, Daniela Giovannini, Chiara Scopa, Silvia Scaricamazza, Raffaella Scardigli, Gianluca Cestra, Annalucia Serafino, Maria Teresa Carrì, Nadia D'Ambrosi, Mauro Cozzolino   +11 more
doaj