Results 81 to 90 of about 162,632 (256)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Spliceosomal components protect embryonic neurons from R-loop-mediated DNA damage and apoptosis

Disease Models & Mechanisms, 2018
RNA splicing factors are essential for the viability of all eukaryotic cells; however, in metazoans some cell types are exquisitely sensitive to disruption of splicing factors.
Shelly Sorrells, Sara Nik, Mattie Casey, Rosannah C. Cameron, Harold Truong, Cristhian Toruno, Michelle Gulfo, Albert Lowe, Cicely Jette, Rodney A. Stewart, Teresa V. Bowman   +10 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Oncogenes and RNA splicing of human tumor viruses

Emerging Microbes and Infections, 2014
Approximately 10.8% of human cancers are associated with infection by an oncogenic virus. These viruses include human papillomavirus (HPV), Epstein–Barr virus (EBV), Merkel cell polyomavirus (MCV), human T-cell leukemia virus 1 (HTLV-1), Kaposi's sarcoma-
Masahiko Ajiro, Zhi-Ming Zheng
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Multifunctional Catechol‐Functionalized Cellulose Hydrogels for the Minimally Invasive Treatment of Acute Optic Nerve Injuries

Advanced Healthcare Materials, EarlyView.
Catechol‐functionalized cellulose hydrogels are developed as injectable, bioadhesive platforms for retinal neuroprotection. The hydrogels exhibit tunable rheological and mechanical properties, strong tissue adhesion, and sustained antioxidative activity.
Kai‐Hsiang Chang, Yi‐Ke Lin, Wei‐Li Chen, Ta‐Ching Chen, Jiashing Yu   +4 more
wiley   +1 more source

Alternative splicing in stem cells and development: research progress and emerging technologies

Cell Regeneration
Alternative splicing is a key regulatory mechanism that generates transcriptomic diversity by selectively splicing pre-RNA molecules in different ways, leading to the production of multiple RNA isoforms from a single gene. This process is crucial for the
Yan Jin, XiaoLin Liang, Xiangting Wang
doaj   +1 more source

Dynamic Loading Regulates Meniscus‐Like Matrix Production in Human Mesenchymal Stromal Cell‐Seeded PET Scaffolds

Advanced Healthcare Materials, EarlyView.
Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira, Luisa de Roy, Anna‐Lotta Feldmeier, Mubashir Ahmad, Sofia Pilão, Maria Ahrens, Anita Ignatius, Carsten Linti, Andreas Martin Seitz   +8 more
wiley   +1 more source

RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer. [PDF]

Cancer Res, 2021
Labrecque MP, Brown LG, Coleman IM, Lakely B, Brady NJ, Lee JK, Nguyen HM, Li D, Hanratty B, Haffner MC, Rickman DS, True LD, Lin DW, Lam HM, Alumkal JJ, Corey E, Nelson PS, Morrissey C.   +17 more
europepmc   +1 more source