Results 41 to 50 of about 1,940 (148)

Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity [PDF]

, 2020
Cantu syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2 and Kir6.1 subunits, respectively, of vascular smooth muscle (VSM) KATP channels.
Remedi, Maria S, Chalk, Rod, Nichols, Colin G, Yan, Zihan, van Haaften, Gijs, Halabi, Carmen M, Kovacs, Attila, Huang, Yan, Harter, Theresa M, McClenaghan, Conor   +9 more
core   +2 more sources

A unique subset of cortical and MSs.

, 2020
(A) Representative images of immunofluorescence staining for LYVE1 (green) and ANXA2 (red), in combination with RNA FISH to detect Glycam1 (white). ANXA2+ lymphatic sinuses are present in the cortex, close to the medulla (indicated by white arrowheads ...
Yuliang He (7027097), Noriki Fujimoto (8677509), Carlotta Tacconi (7027091), Lothar C. Dieterich (7027088), Michael Detmar (121380), Marco D’Addio (8677512)   +5 more
core   +1 more source

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations

Function
Cantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular ...
Alex Hanson, Conor McClenaghan, Kuo-Chan Weng, Sarah Colijn, Amber N Stratman, Carmen M Halabi, Dorothy K Grange, Jonathan R Silva, Colin G Nichols   +8 more
doaj   +1 more source

Single‐Cell RNA Sequencing Reveals Disrupted Stromal–Epithelial Crosstalk Impairs Gut Barrier in Depression

Brain and Behavior, Volume 16, Issue 8, August 2026.
scRNA‐seq atlas of the depressed mouse colon reveals that expansion of disease‐specific cCF1 and CTF stromal subsets disrupts epithelial homeostasis via enhanced TGF‐ß and suppressed WNT/ß‐catenin signaling, impairing stem cell function, differentiation, and intestinal barrier integrity.
Xiao‐Song Xu, Wan‐Ning Zhang, Xu‐Rui Hao, Xiao‐Yu Liu, Hong‐Chen Yu, Cai‐Xia Jia, Jian‐Ming Jiang, De‐Zhi Kong, Yan‐Ru Cai   +8 more
wiley   +1 more source

Heart‐Specific Spinal and Vagal Afferents: Transcriptomic Signatures and Optogenetically Modulated Functional Coupling With Cardiomyocytes

Comprehensive Physiology, Volume 16, Issue 4, August 2026.
Selective purification of heart‐specific spinal and vagal sensory neurons by retrograde labeling and FACS purification showed enhanced spontaneous, optogenetic, and chemically stimulated Ca2+ activity. Transcriptomic profiling identified distinct ion channel and GPCR signatures in heart‐specific sensory neurons.
T. Akgul Caglar, Y. E. Kazci, Z. B. Durdu, S. Sahoglu Goktas, S. Bay, E. Vatandaslar, M. U. Turhan, G. Ozturk, E. Cagavi   +8 more
wiley   +1 more source

Lymphatic Endothelial Cells in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Lymphatic endothelial cells (LECs) are dynamic regulators of tissue homeostasis and disease remodeling. In the healthy state, LECs coordinate interstitial fluid drainage, intestinal lipid transport, and immune trafficking and tolerance. Across disease settings, however, these same programs become maladaptively reprogrammed, contributing to barrier ...
Du Tang, Wang Lin, Hengyang Liu, Jixin Zhong, Shiliang Li, Xiaoquan Rao   +5 more
wiley   +1 more source

Modulation of KATP channels by diazoxide preserves mitochondrial function and barrier integrity under staurosporine‐induced epithelial stress

British Journal of Pharmacology, Volume 183, Issue 12, Page 3213-3233, June 2026.
Background and Purpose Intestinal barrier dysfunction caused by mitochondrial stress, oxidative damage and apoptosis, are hallmarks of dysbiosis‐associated gastrointestinal (GI) disorders. Staurosporine causes downstream features of dysbiosis‐induced epithelial damage.
Fatima Maqoud, Eleonora Malerba, Simona Drago, Antonella Orlando, Domenica Mallardi, Nicoletta De Lucia, Marina Antonacci, Annamaria Di Turi, Domenico Tricarico, Francesco Russo   +9 more
wiley   +1 more source

A genome wide association study for the number of animals born dead in domestic pigs

BMC Genetics, 2019
Background The number of animals born dead, which includes the number of mummified (NM) and stillborn (NS) animals, is the most important trait to directly quantify the reproductive loss in domestic pigs.
Pingxian Wu, Kai Wang, Jie Zhou, Qiang Yang, Xidi Yang, Anan Jiang, Yanzhi Jiang, Mingzhou Li, Li Zhu, Lin Bai, Xuewei Li, Guoqing Tang   +11 more
doaj   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1062-1068, May 2026.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

KATP channel expression and genetic polymorphisms associated with progression and survival in amyotrophic lateral sclerosis. [PDF]

, 2018
The ATP-sensitive potassium (KATP) channel directly regulates the microglia-mediated inflammatory response following CNS injury. To determine the putative role of the KATP channel in amyotrophic lateral sclerosis (ALS) pathology, we investigated whether ...
Vidal Taboada, José Manuel, Pugliese, Marco, Rodríguez Allué, Manuel José, Gamez, Josep, Mahy Gehenne, Josette Nicole, Salvado, Maria   +5 more
core   +1 more source