Article
Biochemistry & Molecular Biology
Sergiu A. Lucaciu, Qing Shao, Rhett Figliuzzi, Kevin Barr, Donglin Bai, Dale W. Laird
Summary: This article investigates the GJA1 gene mutations associated with erythrokeratodermia variabilis et progressiva (EKVP) and explores their effects on the internalization and degradation of Cx43 protein. The study finds that keratinocytes carrying the P283L mutation or the combination of P283L and T290N mutations prolong the residency of Cx43 on the cell surface. However, further research is needed to determine whether this change is sufficient to cause EKVP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Dermatology
Xilin Zhang, Peng Xu, Jiajing Lu, Yangfeng Ding, Jun Gu, Yuling Shi
Summary: Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis characterized by hyperkeratotic plaques and erythematous patches, primarily inherited in an autosomal dominant manner. Mutations associated with EKVP are mainly found in connexin genes. A Chinese case of late-onset EKVP with a novel heterozygous missense mutation in the GJB4 gene is reported here, revealing the essential role of GJB4 in the disease pathogenesis.
EXPERIMENTAL DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Alessandro Terrinoni, Gabriele Sala, Ernesto Bruno, Consuelo Pitolli, Marilena Minieri, Massimo Pieri, Alessandra Gambacurta, Elena Campione, Riccardo Belardi, Sergio Bernardini
Summary: Ichthyoses are genetically determined cornification disorders of the epidermis. Phenotypic overlap among different genetic entities can occur due to variable penetrance of mutations. This study identified a family with mild phenotypes resembling erythrokeratodermia variabilis (EKV), but genetic analysis revealed double heterozygosity for two different mutations in the ABCA12 gene responsible for harlequin ichthyosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Yajuan Gao, Qianli Zhang, Shiyu Zhang, Lu Yang, Yaping Liu, Yuehua Liu, Tao Wang
Summary: A mutation of GJB3 associated with erythrokeratodermia variabilis, ichthyosis, and non-syndromic hearing loss is reported in this Chinese pedigree. The daughter with erythrokeratodermia variabilis and the son with non-syndromic hearing loss inherited the mutation from their mother with ichthyosis. Variation in clinical features may involve genetic, epigenetic, and environmental factors.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Xinyu Wang, Chuan Jiang, Chunli Lu, Longbing Ma, Yuxin Feng, Shengyu Cui, Qian Li, Kang Li, Xiang Wang, Fengzeng Jian
Summary: In this study, changes in the number and morphology of ependymal cilia in a syringomyelia rat model were investigated. The results showed a decline in cilia during the early stage of the disease, leading to disrupted intercellular communication. In the later stage, cilia were further reduced due to shear stress exposure, causing a potential mechanism of ependymal cilia decline in syringomyelia development.
EXPERIMENTAL NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Daniel Rodjakovic, Lilian Salm, Guido Beldi
Summary: Recent studies have shown that Connexin-43 plays important roles in macrophages, including migration, antigen-presentation, intercellular communication, electrochemical support, and immunomodulation. Dysregulation of Cx43 has been described in diseases such as inflammatory bowel disease, tumors, and HIV. However, its involvement in other macrophage functions and inflammatory processes requires further research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Reproductive Biology
Anna Hrabia, Dominika Wolak, Kinga Kowalik, Andrzej Sechman
Summary: This study investigated the expression and regulation of Cxs in the chicken oviduct. The results showed differential expression of Cxs at the gene and oviductal segment levels, and suggested that CX43 may be involved in the regulation of oviduct function. Additionally, estrogen may regulate the expression of CX43 in the chicken oviduct. These findings provide new insights into the potential involvement of Cxs in the mechanisms of egg formation and transport that may affect poultry production.
Article
Biology
Filippo Torrisi, Cristiana Alberghina, Debora Lo Furno, Agata Zappala, Samuel Valable, Giovanni Li Volti, Daniele Tibullo, Nunzio Vicario, Rosalba Parenti
Summary: Manipulating the sonic hedgehog pathway to affect connexin 43 expression can regulate cell migration and proliferation in glioblastoma, potentially offering a new therapeutic strategy.
Article
Medicine, Research & Experimental
Huiqin Wang, Xueying Yang, Huaqing Lai, Yang Sun, Xu Yan, Qidi Ai, Meiyu Lin, Songwei Yang, Yantao Yang, Shifeng Chu, Zhenzhen Wang, Naihong Chen
Summary: Hypericin repaired the dysfunction of gap junctions in the chronic unpredictable stress (CUS) rat model of depression. While hypericin showed potential for treating depression in in vivo experiments, it failed to demonstrate antidepressant benefits in cell experiments. This study suggests that gap junctional function may be a novel therapeutic target for hypericin in the treatment of depression.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Cell Biology
Weiqi Zeng, Zhizhao Deng, Yingxin Gao, Guoliang Sun, Xianlong Li, Dongdong Yuan
Summary: Long-term exposure to Ang II significantly enhances the expression and function of Cx43-GJs in HUASMCs, leading to the accumulation of intracellular Ca2+ and the activation of downstream signaling pathways. However, propofol inhibits the function of Cx43-GJs in Ang II-pretreated HUASMCs, resulting in the inhibition of intracellular Ca2+ and its downstream signaling pathways and ultimately excessive relaxation of HUASMCs. This explains why patients with chronic hypertension experience more severe blood pressure fluctuations after propofol induction.
CELL COMMUNICATION AND SIGNALING
(2023)
Article
Biology
Chao Qi, Silvia Acosta Gutierrez, Pia Lavriha, Alaa Othman, Diego Lopez-Pigozzi, Erva Bayraktar, Dina Schuster, Paola Picotti, Nicola Zamboni, Mario Bortolozzi, Francesco Luigi Gervasio, Volodymyr M. Korkhov
Summary: In this study, the structure of a human Cx43 GJC was determined using cryo-EM and single particle analysis. The pore region of Cx43 GJC was found to have lipid-like densities, and a previously undescribed conformation was discovered on the cytosolic side of the pore. Molecular dynamics simulations revealed the channel properties of Cx43. The captured states of Cx43 were consistent with a closed state.
Article
Physiology
Aya Yamada, Keigo Yoshizaki, Masaki Ishikawa, Kan Saito, Yuta Chiba, Emiko Fukumoto, Ryoko Hino, Seira Hoshikawa, Mitsuki Chiba, Takashi Nakamura, Tsutomu Iwamoto, Satoshi Fukumoto
Summary: Connexin 43 (Cx43) is an integral membrane protein that plays a crucial role in tooth development, regulating intercellular communication through gap junction activity by modulating TGF-beta 1-mediated ERK signaling and enamel formation.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Wen Yi Lim, Leigh Edward Madden, David Laurence Becker
Summary: This study observed an upregulation of Cx43 throughout the pulpal stroma as inflammation worsened in both human and rodent models. Elevated levels of neutrophils were present in advanced pulpitis. In human samples, apoptosis and necroptosis appeared to be upregulated as Cx43 levels rose.
CLINICAL ORAL INVESTIGATIONS
(2021)
Article
Neurosciences
Chelsea M. Phillips, Allison M. Johnson, Svetlana M. Stamatovic, Richard F. Keep, Anuska V. Andjelkovic
Summary: This study reveals that the absence of CCM3 leads to structural defects in the brain endothelial barrier, increasing the risk of vascular leakage. The upregulation of GJA1-20 k is found to disrupt the balance between gap junctions and tight junctions, destabilizing the tight junction complex and increasing brain endothelial barrier permeability.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Agriculture, Multidisciplinary
Ying-Xin Zhao, Yi-Xi Tang, Xiao-Han Sun, Shi-Yong Zhu, Xue-Yan Dai, Xue-Nan Li, Jin-Long Li
Summary: This study utilized an in vivo model of neurotoxicity in quail to investigate the effects of DEHP exposure on astrocytes. The results revealed that DEHP exposure resulted in phosphorylation and translocation of Cx43 in astrocytes. Additionally, the study showed that DEHP exposure induced pro-inflammatory status and autophagosome formation in astrocytes. These findings provide valuable insights into the mechanisms of neurodegeneration caused by DEHP exposure and suggest a potential therapeutic target for its treatment.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2022)