Results 61 to 70 of about 2,890 (187)

GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Case Reports in Neurological Medicine, 2016
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results.
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan   +7 more
doaj   +1 more source

Integrative analysis of expression profile indicates the ECM receptor and LTP dysfunction in the glioma-related epilepsy

BMC Genomics, 2022
Background Seizures are a common symptom in glioma patients, and they can cause brain dysfunction. However, the mechanism by which glioma-related epilepsy (GRE) causes alterations in brain networks remains elusive.
Zhi-Bin Wang, Jian Qu, Pan Xie, Zhi-Quan Yang, Chen-Xue Mao, Ying Zhang, Zheng-Wen He, Zhuan-Yi Yang, Xiao-Yuan Mao, Zhao-Qian Liu   +9 more
doaj   +1 more source

Genes selection using deep learning and explainable artificial intelligence for chronic lymphocytic leukemia predicting the need and time to therapy

Frontiers in Oncology, 2023
Analyzing gene expression profiles (GEP) through artificial intelligence provides meaningful insight into cancer disease. This study introduces DeepSHAP Autoencoder Filter for Genes Selection (DSAF-GS), a novel deep learning and explainable artificial ...
Fortunato Morabito, Carlo Adornetto, Paola Monti, Adriana Amaro, Francesco Reggiani, Monica Colombo, Yissel Rodriguez-Aldana, Giovanni Tripepi, Graziella D’Arrigo, Claudia Vener, Federica Torricelli, Teresa Rossi, Antonino Neri, Manlio Ferrarini, Giovanna Cutrona, Massimo Gentile, Massimo Gentile, Gianluigi Greco   +17 more
doaj   +1 more source

Aging‐Derived Alterations in Genomic, Immune, and Metabolic Networks: Implications for Cancer Development and Therapy

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Ageing acts as a double‐edged sword in cancer. In the elderly, open chromatin, immunosenescence, and chronic inflammation drive SASP (IL‐6, MMPs), MDSC accumulation and T‐cell suppression, fostering tumor‐promoting microenvironments and limited therapeutic benefit.
Qi Wang, Xue Sun, Xinhao Han, Xingda Zhang, Wenzheng Wang, Hongbin Wang, He Ren, Lina Gu   +7 more
wiley   +1 more source

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]

PLoS ONE, 2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis   +7 more
doaj   +1 more source

Molecular Glue Degraders Redefining Targeted Therapies From Discovery to Therapeutic Applications

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Molecular glue degraders (MGDs) constitute an emerging class of therapeutic agents poised to revolutionize the paradigm of targeted drug discovery. By reprogramming E3 ubiquitin ligases to degrade proteins of interest (POI) via a transient formation of a ternary complex mediated by protein–protein interactions, MGDs surpass the intrinsic limitations of
Jinfeng Wen, Jingtian Yu, Wuqiang Wen, Baishan Jiang   +3 more
wiley   +1 more source

Optimal energy management of water networks under quality conditions

International Transactions in Operational Research, Volume 33, Issue 2, Page 926-951, March 2026.
Abstract In the context of sustainability, which has become fundamental today, we aim to optimize (reduce) the energy consumption due to the use of pumps that bring water from all the different reservoirs to the nodes of the distribution network. The proposed model allows us, thanks to the use of smart meters and new 5G technologies, to determine the ...
Gabriella Colajanni, Daniele Sciacca, Letizia Paone   +2 more
wiley   +1 more source

The proteomic profile of hereditary inclusion body myopathy. [PDF]

PLoS ONE, 2011
Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown.
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Zohar Argov, Hannah Ben-Bassat, Stella Mitrani-Rosenbaum   +7 more
doaj   +1 more source

NADH‐Reductive Stress Induced by Dihydrolipoamide Dehydrogenase Activation Contributes to Cuproptosis

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study demonstrates a cuproptosis mechanism involving nicotinamide adenine dinucleotide (NADH)‐reductive stress in neural cells. Copper activates dihydrolipoamide dehydrogenase under mitochondrial pH, accumulating NADH. Copper also induces mitochondrial permeability transition pore opening, facilitating NADH translocation to the cytosol and ...
Si‐Yi Zhang, Xing‐Hua Ren, Cheng‐Hong Zhang, Zhan‐You Wang   +3 more
wiley   +1 more source

Establishment and Characterization of MCA23, a Novel Mouse Intrahepatic Cholangiocarcinoma Cell Line

Cancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Introduction Intrahepatic cholangiocarcinoma (ICC) is an aggressive type of malignancy. Recent advancements have highlighted the importance of the tumor immune microenvironment in therapeutic responses and prognosis. However, the lack of a mouse‐derived ICC cell line and current mouse models limit explorations of the TME in ICC.
Yuchao He, Yi Luo, Liwei Chen, Yu Wang, Bei Liu, Mengting Sun, Wenchen Gong, Xiangdong Tian, Lin Guo, Qin Zhang, Qiang Wu, Lu Chen, Hua Guo   +12 more
wiley   +1 more source