Results 71 to 80 of about 152,197 (251)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Introns: evolution and function

, 1994
The debate continues on the issue of whether nuclear introns were present in eukaryotic protein-coding genes from the beginning (introns-early) or invaded them later in evolution (introns-late).
Mattick J.S.
core   +1 more source

The role of introns in evolution [PDF]

, 1990
What are the roles of ‘classical’ introns in the evolution of nuclear genes, and what was the origin of these introns? Exon shuffling has been important in the evolution of cell surface and extracellular proteins, but the evidence for it in respect of ...
John H. Rogers, Rogers, John H.
core   +1 more source

Water‐Activated Phospholipid Phase‐Separation Gel as an Immunomodulatory Anti‐Adhesion Barrier for Postoperative Adhesion Prevention

Advanced Healthcare Materials, EarlyView.
A water‐activated phospholipid phase‐separation gel is repurposed as a drug‐free surgical barrier for postoperative adhesion prevention. Propylene glycol promotes rapid lamellar gel reinforcement, prolonged local retention, and tissue coverage, while phosphatidylcholine‐mediated immunomodulation suppresses inflammatory and fibrotic responses. This dual‐
Jong‐Ju Lee, Yulseung Sung, Yeji Kim, Heesang Yang, Suyeon Pyo, Byeol Yun, Sung‐Joo Hwang   +6 more
wiley   +1 more source

Modulation of miR‐23b Wnt/β‐catenin Axis Strengthens Endothelial Barrier Properties

Advanced Science, EarlyView.
Early blood‐brain barrier (BBB) disruption contributes to stroke and CNS disease pathology. miR‐23b was identified as a regulator of BBB integrity in brain endothelial cells. Inhibition of miR‐23b enhanced barrier‐associated properties, promoted repair‐related signaling, and reduced BBB leakage in experimental stroke models, supporting further ...
Victor Anthony Martinez, Rose E. Presby, Sara Nakanishi, Pallavi Gaur, Ugur Akcan, Johannes Daugaard Krog, Iben Daugaard Krog, Lipi Das, David S. Johnson, Danny Jamoul, Douglas Jury, Brian Lawson, Jacob Körbelin, Lewis M. Brown, Vilas Menon, Dritan Agalliu, Irene Munk Pedersen   +16 more
wiley   +1 more source

The function of introns

, 2012
The intron-exon architecture of many eukaryotic genes raises the intriguing question of whether this unique organization serves any function, or is it simply a result of the spread of functionless introns in eukaryotic genomes.
Michal eChorev, Liran eCarmel
core   +1 more source

RNAi in the Rhizarian Phytopathogen Plasmodiophora brassicae: The Causal Agent of Clubroot Disease in Cruciferous Crops

Advanced Science, EarlyView.
This study uncovers an unusual RNAi pathway in the rhizarian pathogen Plasmodiophora brassicae. In the absence of Dicer, a Drosha‐like RNase III protein supports the biogenesis of predominant 21‐nt small RNAs, and two Argonaute proteins mediate small RNA‐guided silencing.
Xiong Zhang, Yupo Wu, Jiachang Hou, Lixia Gao, Longqi Pan, Cuicui Shen, Chuanji Zhao, Feng Gao, Yi Zhang, Li Ren, Xiaoping Fang, Xiaoling Dun, Shengyi Liu, Lijiang Liu   +13 more
wiley   +1 more source

The complete mitochondrial genome of Dunaliella salina CS-265: insights into gene content and phylogenetic placement

Mitochondrial DNA. Part B. Resources
We report the complete mitochondrial genome of the halotolerant green alga Dunaliella salina CS-265, isolated from a hypersaline lake in central Australia.
A. K. Lisa, W. G. Reeve, D. W. Laird, A. Chopra, N. R. Moheimani   +4 more
doaj   +1 more source

Sense-antisense gene overlap is probably a cause for retaining the few introns in Giardia genome and the implications

Biology Direct, 2018
Background It is widely accepted that the last eukaryotic common ancestor and early eukaryotes were intron-rich and intron loss dominated subsequent evolution, thus the presence of only very few introns in some modern eukaryotes must be the consequence ...
Min Xue, Bing Chen, Qingqing Ye, Jingru Shao, Zhangxia Lyu, Jianfan Wen   +5 more
doaj   +1 more source