Results 111 to 120 of about 105,512 (249)

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Neuroimmune pathways involvement in neurodegeneration of R6/2 mouse model of Huntington’s disease

Frontiers in Cellular Neuroscience
Mechanisms of tissue damage in Huntington’s disease (HD) involve excitotoxicity, mitochondrial damage, and neuroinflammation, including microglia activation. CD47 is a membrane protein that interacts with the inhibitory immunoreceptor SIRPα.
Emanuela Paldino, Giorgia Migliorato, Giorgia Migliorato, Francesca R. Fusco   +3 more
doaj   +1 more source

Free Fatty Acid Induces Apoptosis via Retinoic Acid Receptor-Related Orphan Receptor Alpha (RORA)-Mediated Protein Tyrosine Phosphatase Non-Receptor Type 2 (PTPN2) Downregulation in Hepatic Cells

International Journal of Clinical and Translational Medicine
Background: Retinoic Acid Receptor-Related Orphan Receptor Alpha (RORA) is a transcription factor in addition to a nuclear orphan receptor. It was shown to regulate the expression of various proteins that regulate hepatic functions. RORA expression was downregulated under Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) conditions ...
Md Ismail, Teja Naveen Sata, Ajay Kumar Yadav, Shaivyanand Singh, Gopal Sharma, Amrendra Kumar Sah, Tannavi Sharma, Senthil Kumar Venugopal   +7 more
openaire   +1 more source

The β integrin modulates serotonin sensitivity via NPxY motifs to regulate egg laying and mechanosensation behaviors in Caenorhabditis elegans

Developmental Dynamics, EarlyView.
Abstract Background Integrin is an αβ heterodimeric receptor to the extracellular matrix; its binding to the matrix recruits focal adhesions to two NPxY motifs, the tyrosine phosphorylation sites in the cytoplasmic domain. Studies found that replacing tyrosines (Y) with phenylalanines (F) in the motif of β1 integrin displayed little developmental or ...
Josh Haram Bumm, Daniel Dogeon Lee, Zhongqiang Qiu, Angela Haeun Choi, Meghana Kolluri, Michael J. Olsen, Lianzijun Wang, Myeongwoo Lee   +7 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Transcriptomic analysis of glucosidase II beta subunit (GluIIß) knockout A549 cells reveals its roles in regulation of cell adhesion molecules (CAMs) and anti-tumor immunity

BMC Genomics
Glucosidase II beta subunit (GluIIß), encoded from PRKCSH, is a subunit of the glucosidase II enzyme responsible for quality control of N-linked glycoprotein folding and suppression of GluIIß led to inhibitory effect of the receptor tyrosine kinase (RTKs)
Worapong Khaodee, Guo Xiyuan, Moe Thi Thi Han, Chatchai Tayapiwatana, Sawitree Chiampanichayakul, Songyot Anuchapreeda, Ratchada Cressey   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

A New Vista of Opportunity in Diabetes Management: Natural Product‐Based β‐cell Preservation

Food Chemistry International, EarlyView.
Preserving functional β‐cells via natural products offers promising strategy for diabetes treatment. ABSTRACT A defining characteristic of diabetes is β‐cell failure, in which β‐cells cannot modulate insulin secretion to compensate for escalating insulin resistance, pushing forward disease development.
Yi‐San Lee, Tien‐Fen Kuo, Chun‐Yen Yang, Greta Yang, Wen‐Chin Yang   +4 more
wiley   +1 more source

Combining phenotypic, physiological, and multi‐omics studies to provide new insights on the role of 2,4‐epibrassinolide in regulation of seed shattering in Elymus sibiricus L.

Grassland Research, EarlyView.
Abstract Background Seed shattering limits the production of Elymus sibiricus L., and application of exogenous brassinosteroid significantly alleviates plant organ abscission. Methods To explore the potential regulatory network of brassinosteroid on seed shattering, the abscission zone of E. sibiricus cv. Lanyu No.
Huanhuan Lu, Yiyang Wan, Liuban Tang, Yongsen Qiu, Yancui Zhao, Yuying Zheng, Wengang Xie   +6 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source