Results 71 to 80 of about 6,585 (184)

Microglial VRK2 Regulates Astrocytic GABA Synthesis and Tonic Inhibition in the Thalamus

Glia, Volume 74, Issue 1, January 2026.
In Vrk2‐deficient mice, tonic GABA inhibition is reduced in the mediodorsal thalamus due to impaired astrocytic GABA synthesis. Microglial VRK2 regulates this process via TNF‐α signaling, revealing a glial–glial mechanism of thalamic inhibition.
Dongsu Lee, Go Eun Ha, Yeleen Lee, Denise Lee, Jongseo Lee, Jae Ho Yoon, Leechung Chang, Kyung Won Jo, Ho‐Keun Kwon, Kyong‐Tai Kim, Eunji Cheong   +10 more
wiley   +1 more source

Cantu syndrome complicated with 22q11.2 duplication syndrome:a case report [PDF]

Jichu yixue yu linchuang
Objective To investigate the clinical manifestations of Cantu syndrome complicated with 22q11.2 duplication syndrome and to raise awareness regarding the diagnosis of the co-occurrence of both genetic diseases.
SONG Yueyang, SHI Yajun, YU Xi, WEN Yingshi, SUN Miao
doaj   +1 more source

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

American Journal of Medical Genetics Part A, 2019
AbstractCantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain‐of‐function mutations in the regulatory (SUR2) and pore‐forming (Kir6.1) subunits of KATP channels, respectively, suggesting that channel ...
Alan Ma, Sunita Gurnasinghani, Edwin P. Kirk, Conor McClenaghan, Gautam K. Singh, Dorothy K. Grange, Chetan Pandit, Yung Zhu, Tony Roscioli, George Elakis, Michael Buckley, Bhavesh Mehta, Philip Roberts, Jonathan Mervis, Andrew Biggin, Colin G. Nichols   +15 more
openaire   +2 more sources

Single‐Cell RNA‐Sequencing Reveals Cachectic Satellite Cell Population in Muscle of Male Mice With Cancer Cachexia

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Cancer cachexia leads to decreases in body mass, lean mass and fat mass, decreased therapeutic potential and ~20% of cancer‐related deaths. While several studies have demonstrated changes to components of the muscle microenvironment with cancer cachexia, none have comprehensively assessed changes to cellular dynamics across the ...
Alex Brown, Nicolás Collao, Aisha Saleh, Natasha Strong, Michael De Lisio, Nadine Wiper‐Bergeron   +5 more
wiley   +1 more source

Deciphering Pleiotropic Single‐Nucleotide Polymorphisms Governing Fertility–Milk Yield Trade‐Offs in Dairy Cattle: A Genome‐Wide Chromosomal Landscape Analysis

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Fertility and milk production in dairy cattle are economically significant traits, but they exhibit an unfavorable genetic correlation, making simultaneous improvement challenging. Identifying pleiotropic genes that influence both traits can provide valuable insights for genomic selection.
Heydar Ghiasi, Majid Khaldari, Reza Taherkhani, Navid Ghavi Hossein-Zadeh, Zhenyu Gong   +4 more
wiley   +1 more source

Correction: TRIM11 facilitates chemoresistance in nasopharyngeal carcinoma by activating the β-catenin/ABCC9 axis via p62-selective autophagic degradation of Daple [PDF]

Oncogenesis
Runa Zhang, Si-Wei Li, Lijuan Liu, Jun Yang, Guofu Huang, Yi Sang   +5 more
doaj   +2 more sources

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +1 more source

Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2 [PDF]

Neurobiology of Aging, 2017
Hippocampal sclerosis of aging (HS-Aging) is a common neurodegenerative condition associated with dementia. To learn more about genetic risk of HS-Aging pathology, we tested gene-based associations of the GRN, TMEM106B, ABCC9, and KCNMB2 genes, which were reported to be associated with HS-Aging pathology in previous studies.
Yuriko Katsumata, Peter T. Nelson, Sally R. Ellingson, David W. Fardo   +3 more
openaire   +2 more sources

Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel. [PDF]

PLoS ONE, 2015
BACKGROUND:The etiology of conduction disturbances necessitating permanent pacemaker (PPM) implantation is often unknown, although familial aggregation of PPM (faPPM) suggests a possible genetic basis.
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta   +12 more
doaj   +1 more source

IPGCA: A Comprehensive Single Cell Atlas of 1 074 127 Porcine Intestinal Cells Revealing Cellular Dynamics, Genetic Regulation, and Cross‐Species Conservation

Advanced Science, Volume 12, Issue 47, December 18, 2025.
A high resolution integrated cell atlas of the pig intestine provides insights into the genetic mechanisms of complex traits (Created in BioRender. Yu, P. (2025) https://BioRender.com/o14c563) Abstract The porcine intestinal tract is vital for nutrient absorption, immune regulation, and various physiological processes.
Pengfei Yu, Qinqin Xie, Xiaodian Cai, Zhanming Zhong, Ran Wei, He Han, Shuang Liu, Zhenyang Zhang, Lingyao Xu, Zitao Chen, Zhe Zhang, Qishan Wang, Yuchun Pan, Zhen Wang, Zhe Zhang   +14 more
wiley   +1 more source