Results 51 to 60 of about 3,632 (118)

A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia

Molecular Genetics & Genomic Medicine, 2020
Background Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A–E.
Mohan Liu, Xueguang Zhang, Hongqian Liu, Ying Shen   +3 more
doaj   +1 more source

Patient‐Derived 3D Bioprinted Cardiac Organoid Constructs Reveal Key Pathological Features of Duchenne Muscular Dystrophy

Advanced Healthcare Materials, Volume 15, Issue 16, 24 April 2026.
Patient‐derived cardiac organoids reveal key features of Duchenne muscular dystrophy cardiomyopathy, including apoptosis, oxidative stress, calcium handling defects, and mechanical remodeling. By integrating organoids into alginate–gelatin bioprinted constructs, disease phenotypes are organized into scalable 3D cardiac tissues displaying extracellular ...
Vittoria Marini, Margalida Campaner Socias, Andreas Dimopoulos, Lorenza Rinvenuto, Enrico Pozzo, Diana Stalkopf, Angelo Serafini, Sara Morri, Ashley Wang, Rita La Rovere, Yoke Chin Chai, Sveva Bollini, Geert Bultynck, H. Llewelyn Roderick, Ioannis Papantoniou, Maurilio Sampaolesi   +15 more
wiley   +1 more source

Cardiac Manifestations of KCNK17 Mutations and/or Polymorphisms: A Systematic Review

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims The KCNK17 gene encodes k2p17.1 channels (TASK‐4 or TALK‐2) with dominant expressions in the atria and the Purkinje fibers. Emerging studies have suggested possible associations between KCNK17 variants and cardiovascular as well as cerebrovascular diseases. This review aimed to systematically evaluate the evidence on KCNK17
Amir Askarinejad, Mahshid Malakootian, Dorsa Shekouh, Amirreza Sabahizadeh, Majid Haghjoo   +4 more
wiley   +1 more source

Functional expression of inwardly rectifying and ATP‐sensitive potassium channels in human pulmonary artery smooth muscle and endothelial cells

The Journal of Physiology, Volume 604, Issue 5, Page 1820-1839, 1 March 2026.
Abstract figure legend Inwardly rectifying (Kir2) and ATP‐sensitive (KATP) potassium channels are functionally expressed in human pulmonary artery endothelial and smooth muscle cells. The schematic illustrates how Kir2‐ and KATP‐mediated K+ efflux contributes to VM regulation and pulmonary vascular tone.
Bianca Barreira, Daniel Morales‐Cano, Laura Moreno, Beatriz de Olaiz, Rui Adão, Angel Cogolludo, Francisco Perez‐Vizcaino, Maria Sancho   +7 more
wiley   +1 more source

#51 From Paralysis to Heart Block: A Diagnostic Challenge in Andersen-Tawil Syndrome

Graduate Medical Education Research Journal
Mentor: Jeffrey Robinson Program: Pediatrics – Cardiology Type: Case Report Background: Andersen-Tawil Syndrome (ATS) is a rare genetic disorder caused by mutations in the KCNJ2 gene, which encodes Kir2.1 potassium channels, resulting in the triad of ...
Andrew Nguyen, Danita Velasco, Jeffrey Robinson   +2 more
doaj   +1 more source

Up-Regulation of Kir2.1 (KCNJ2) by the Serum & Glucocorticoid Inducible SGK3

Cellular Physiology and Biochemistry, 2014
Background/Aims: The serum & glucocorticoid inducible kinase SGK3, an ubiquitously expressed serine/threonine kinase, regulates a variety of ion channels.
Carlos Munoz, Tatsiana Pakladok, Ahmad Almilaji, Bernat Elvira, Niels Decher, Ekaterina Shumilina, Florian Lang   +6 more
doaj   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source

Adequate post-ischemic reperfusion of the mouse brain requires endothelial NFAT5

Acta Neuropathologica Communications
Severity and outcome of strokes following cerebral hypoperfusion are significantly influenced by stress responses of the blood vessels. In this context, brain endothelial cells (BEC) regulate inflammation, angiogenesis and the vascular resistance to ...
Reiner Kunze, Paul Wacker, Paula Breuer, Emil Nasyrov, Ivan M. Kur, Andreas Weigert, Andreas H. Wagner, Hugo H. Marti, Thomas Korff   +8 more
doaj   +1 more source

Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.

PLoS Computational Biology, 2017
Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF).
Dominic G Whittaker, Haibo Ni, Aziza El Harchi, Jules C Hancox, Henggui Zhang   +4 more
doaj   +1 more source

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

BMC Medical Genetics, 2017
Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c.434A > 
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein   +5 more
doaj   +1 more source