[HTML][HTML] Human diseases associated with connexin mutations

M Srinivas, VK Verselis, TW White - Biochimica et Biophysica Acta (BBA) …, 2018 - Elsevier
Gap junctions and hemichannels comprised of connexins impact many cellular processes.
Significant advances in our understanding of the functional role of these channels have …

Connexins and disease

M Delmar, DW Laird, CC Naus… - Cold Spring …, 2018 - cshperspectives.cshlp.org
Inherited or acquired alterations in the structure and function of connexin proteins have long
been associated with disease. In the present work, we review current knowledge on the role …

[HTML][HTML] DFNB1 non-syndromic hearing impairment: Diversity of mutations and associated phenotypes

FJ Del Castillo, I Del Castillo - Frontiers in molecular neuroscience, 2017 - frontiersin.org
The inner ear is a very complex sensory organ whose development and function depend on
finely balanced interactions among diverse cell types. The many different kinds of inner ear …

Mechanism of gating by calcium in connexin hemichannels

W Lopez, J Ramachandran… - Proceedings of the …, 2016 - National Acad Sciences
Aberrant opening of nonjunctional connexin hemichannels at the plasma membrane is
associated with many diseases, including ischemia and muscular dystrophy. Proper control …

Cryo-EM structure of human Cx31. 3/GJC3 connexin hemichannel

HJ Lee, H Jeong, J Hyun, B Ryu, K Park, HH Lim… - Science …, 2020 - science.org
Connexin family proteins assemble into hexameric channels called hemichannels/
connexons, which function as transmembrane channels or dock together to form gap …

[HTML][HTML] Connexin mutations and hereditary diseases

Y Qiu, J Zheng, S Chen, Y Sun - International Journal of Molecular …, 2022 - mdpi.com
Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …

[HTML][HTML] Diseases associated with leaky hemichannels

MA Retamal, EP Reyes, IE García, B Pinto… - Frontiers in cellular …, 2015 - frontiersin.org
Hemichannels (HCs) and gap junction channels (GJCs) formed by protein subunits called
connexins (Cxs) are major pathways for intercellular communication. While HCs connect the …

Connexin channels in congenital skin disorders

E Lilly, C Sellitto, LM Milstone, TW White - Seminars in cell & …, 2016 - Elsevier
Gap junctions and hemichannels comprised of connexins influence epidermal proliferation
and differentiation. Significant advances in our understanding of the functional role of …

Co-exposure to cadmium and microplastics promotes liver fibrosis through the hemichannels-ATP-P2X7 pathway

J Sun, H Qu, W Ali, Y Chen, T Wang, Y Ma, Y Yuan… - Chemosphere, 2023 - Elsevier
Abstract Microplastics (MPs) and cadmium (Cd) are important environmental pollutants, that
damage the liver. However, the effect and mechanism of combined Cd and MPs exposure …

[HTML][HTML] S-nitrosylation of connexin43 hemichannels elicits cardiac stress–induced arrhythmias in Duchenne muscular dystrophy mice

MA Lillo, E Himelman, N Shirokova, LH Xie… - JCI insight, 2019 - ncbi.nlm.nih.gov
Patients with Duchenne muscular dystrophy (DMD) commonly present with severe
ventricular arrhythmias that contribute to heart failure. Arrhythmias and lethality are also …