Results 251 to 260 of about 147,437 (336)

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Global Economic Burden of Spinal Muscular Atrophy: A Systematic Literature Review. [PDF]

Cureus
Elshahawy R, Elezbawy B, Ashmawy R, Elshahawy R, Mahmoud YS, Korra N, Abaza S, Alnajjar A, Al-Abdulkarim HA, Al-Omar HA, Fahmy S, Al Dallal S, Fasseeh AN.   +12 more
europepmc   +1 more source

The Immune Microenvironment: New Therapeutic Implications in Organ Fibrosis

Advanced Science, EarlyView.
This review summarizes recent advances in understanding the immune microenvironment's role in fibrosis, focusing on phenotypic/functional alterations of immune cells and their dynamic interactions with other cellular constituents within tissues. The authors further explore therapeutic opportunities and challenges in targeting immune microenvironment ...
Xiangqi Chen, Chuan Wu, Fei Tang, Jingyue Zhou, Li Mo, Yanping Li, Jinhan He   +6 more
wiley   +1 more source

Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal: a case report. [PDF]

Front Pediatr
Jieda X, Yang C, Wu Y, Zhang R, Xu W, Dong W.   +5 more
europepmc   +1 more source

Targeting eRNA‐Producing Super‐Enhancers Regulates TNFα Expression and Mitigates Chronic Inflammation in Mice and Patient‐Derived Immune Cells

Advanced Science, EarlyView.
Targeting eRNAs from TNFα‐associated super‐enhancers with ASOs effectively reduces TNFα expression and inflammatory responses in both mouse models and patient‐derived immune cells. The conserved nature of these regulatory regions between species highlights the potential of eRNA‐targeted approaches as a therapeutic strategy for chronic inflammatory ...
Minjeong Cho, Su Min Kim, Jiyeon Lee, Oh Chan Kwon, Wonjin Woo, Eunji Lee, Hyo Jin Park, Yeongun Lee, So Hee Dho, Tae‐Kyung Kim, Min‐Chan Park, Richard A. Flavell, Lark Kyun Kim   +12 more
wiley   +1 more source

Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review. [PDF]

Neurol Sci
Gnazzo M, Pisanò G, Piccolo B, Turco EC, Esposito S, Pera MC.   +5 more
europepmc   +1 more source

Developing Biomaterial‐Based mRNA Delivery System for Lung Disease Treatment

Advanced Science, EarlyView.
Schematic illustration of biomaterial delivery mRNA for the treatment of lung diseases. Abstract Lung disease remains a persistent global health challenge. Advances in medical research have led to innovative strategies to combat these conditions, with biomaterials emerging as a promising platform for targeted drug delivery.
Qiancheng Gu, Huaqian Xue, Zhiyun Liu, Jiameng Rao, Lingyao Zeng, Chen Zhang, Lanjie Lei, Liyun Shi   +7 more
wiley   +1 more source

Pyroptosis‐Inducing Platinum(IV) Prodrugs via GSDME Pathway for Chemoimmunotherapy and Metastasis Inhibition in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
Three PtIV prodrugs MRP, DRP, and HRP are designed to induce pyroptosis in low GSDME‐expressing tumor cells via the Caspase‐3/GSDME pathway. By relaxing chromatin and reactivating GSDME, HRP can effectively induce pyroptosis, enhance pro‐inflammatory cytokine production, and exhibit potent antitumor effects.
Xinda Yang, Chuansheng Xu, Youliang Zeng, Chunhui Wang, Yan Gao, Jie Ding, Sirui Chen, Yuheng Pan, Xin Zhang, Zongwan Mao, Shuo Shi   +10 more
wiley   +1 more source

Adiponectin and Leptin-Considerations in Adult Patients with Spinal Muscular Atrophy Type 3. [PDF]

Diagnostics (Basel)
Miletić M, Stević Z, Perić S, Tančić Gajić M, Rakočević J, Stojanović M, Marković B, Žarković M.   +7 more
europepmc   +1 more source

Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA. [PDF]

Mol Genet Metab Rep
Shekhawat DS, Mittal A, Singh K.
europepmc   +1 more source