Results 61 to 70 of about 15,686 (159)

Astrocytic connexin43 phosphorylation contributes to seizure susceptibility after mild traumatic brain injury

The FEBS Journal, EarlyView.
Astrocytic gap junctions formed by connexin43 (Cx43) help maintain brain homeostasis. After mild traumatic brain injury (TBI), total cortical Cx43 increases and redistributes toward a soluble, non‐junctional pool with elevated hemichannel activity and increased phosphorylation at serine 368 (pCx43S368).
Carmen Muñoz‐Ballester, Owen Leitzel, Samantha Golf, Chelsea M. Phillips, Michael J. Zeitz, Rahul Pandit, Elizabeth Wash, Jenna V. Donohue, Elizabeth A. Istre, James W. Smyth, Samy Lamouille, Stefanie Robel   +11 more
wiley   +1 more source

GJA1-20k Arranges Actin to Guide Cx43 Delivery to Cardiac Intercalated Discs

, 2017
Rationale: Delivery of Cx43 (connexin 43) to the intercalated disc is a continuous and rapid process critical for intercellular coupling.
Ying Fu, Andre G. Kleber, Robin M. Shaw, TingTing Hong, Shaohua Xiao, Wassim A. Basheer, Irina Epifantseva   +6 more
core   +1 more source

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus

Pediatric Dermatology, EarlyView.
ABSTRACT Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, and scaly plaques following Blaschko's lines. Known genetic causes include somatic variants in CARD14 and GJA1. In addition, a similar phenotype of congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD ...
Janan Mohamad, Kiril Malovitski, Moshe Giladi, Eylon Sharoni, Nabih Elias, Yarden Feller, Jacob Mashiah, Moran Furman, Ofer Sarig, Eli Sprecher, Liat Samuelov   +10 more
wiley   +1 more source

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia [PDF]

, 2003
Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules.
Wollnik, Bernd, Christian, Cathy, Shapiro, R.E., Keegan, C. E., Dinulos, M. B., Jabs, E. W ., Hannibal, Mark C., Boyadjiev, S.A., Paznekas, WA, Dinulos, MB, Paznekas, W. A., Christian, C, Boyadjiev, SA, Boyadjiev, Simeon A., Dinulos, Mary Beth, Christian, C., Hannibal, M. C ., Shapiro, R. E., Wollnik, B, Jabs, E.W., Jabs, Ethylin Wang, Paznekas, W.A., Daniels, Otto, Innis, J. W., Innis, Jeffrey W., Daniels, O, Dinulos, M.B., Innis, J.W., Daniëls, O., Keegan, C.E., Keegan, Catherine E., Hannibal, MC, Wollnik, B., Jabs, EW, Keegan, CE, Paznekas, William A., Shapiro, RE, Innis, JW, Shapiro, Robert E., Hannibal, M.C.   +39 more
core   +1 more source

Age‐ and sex‐specific modulation of human cardiac electrophysiology by doxorubicin

The Journal of Physiology, EarlyView.
Abstract figure legend DOX differentially impacts cardiac electrophysiology based on sex and age. Sex differences were primarily observed among younger hearts, where action potential duration (APD) prolongation was observed in females, but not in males. Created using BioRender. George, S. (2026) https://BioRender.com/wresf1k Abstract Acute doxorubicin (
Sharon A. George, Amber V. Mills, Erin O'Neill, Sofian N. Obaid, Igor R. Efimov, Tatiana Efimova   +5 more
wiley   +1 more source

Pathogenic Variants in HEPACAM Alter Protein Localization and Interactome in Astrocytes of the Developing Mouse Cortex

Glia, Volume 74, Issue 11, November 2026.
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Robert W. Lewis, Breana C. Dogan, Amy L. Stanek, Elliot B. Evans, Madelyn G. Coble, Hayli E. Spence‐Osorio, Karen L. G. Farizatto, Angie L. Mordant, C. Allie Mills, Laura E. Herring, Katherine T. Baldwin   +10 more
wiley   +1 more source

Cell Type‐Specific Extracellular Vesicles in Mouse Brain: Proteomic Signatures Highlight Astrocytic GlialCAM Network and GPCR Enrichment

Glia, Volume 74, Issue 10, October 2026.
Cell type–specific EVs were isolated from mouse brain and profiled by proteomics. Each EV subtype exhibited proteomic signatures consistent with the specialized functions of its cell of origin. Astrocyte‐derived EVs (ADEVs) were enriched for the GlialCAM/MLC1 network and GPCRs.
Alba M. Lucart‐Sanchez, Edward Sellés‐Climent, Jorge Navarro‐Calvo, Guillem Pont‐Espinós, Jose A. Gomez‐Sanchez, Raúl Estévez, Luis M. Valor, Rocío Pérez‐González   +7 more
wiley   +1 more source

GJA1 Gene Polymorphisms and Topographic Distribution of Cranial MRI Lesions in Cerebral Small Vessel Disease

Frontiers in Neurology, 2020
Vascular endothelial cell (EC) and blood–brain barrier (BBB) dysfunction is the core pathogenesis of cerebral small vessel disease (CSVD). Moreover, animal experiments have shown the importance of connexin (Cx)-43 in EC and BBB function.
Jing Zhang, Qian You, Junlong Shu, Qiang Gang, Haiqiang Jin, Meng Yu, Wei Sun, Wei Zhang, Yining Huang   +8 more
doaj   +1 more source

Microenvironmental Reprogramming by 3D Anisotropic Cardiac Extracellular Matrix Induces Nuclear Remodeling and Epigenetic Maturation of Chemically Induced Cardiomyocytes

Advanced Functional Materials, Volume 36, Issue 75, 17 September 2026.
A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo, Mi Jeong Lee, Hyun Wook Kang, Seonhee Byeon, Soo‐Kyoung Choi, Nakwon Choi, Seung‐Woo Cho, Yoonhee Jin   +7 more
wiley   +1 more source

Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene [PDF]

, 2015
Oculodentodigital dysplasia (ODDD) [MIM 164200] is a rare disorder caused by mutations in the gap junction alpha 1 (GJA1) gene encoding for connexin 43 (Cx43).
FEDERICO, ANTONIO, DI DONATO, ILARIA, TUMMINELLI, GEMMA, Guida, Valentina, RUFA, ALESSANDRA, De Luca, Alessandro   +5 more
core   +1 more source