Results 91 to 100 of about 9,804 (231)

Naxos disease: from the origin to today

open access: yesOrphanet Journal of Rare Diseases, 2018
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD).
Guo-Liang Li   +2 more
doaj   +1 more source

Functions of p120ctn in development and disease [PDF]

open access: yes, 2012
p120 catenin (p120ctn), a component of the cadherin-catenin complex, was the first member to be identified in a most interesting subfamily of the Armadillo family. Several p120ctn isoforms are generated by alternative splicing.
Pieters, Tim   +2 more
core   +1 more source

Microglia limit brain tumor development by restricting tumor cell proliferation and inducing T‐cell immunity

open access: yesMolecular Oncology, Volume 19, Issue 9, Page 2670-2685, September 2025.
Microglia (BV2) and IL‐4‐treated BMDMs promote astrocytoma clustering and inhibit tumor growth, not shown in other macrophage cells. In vivo, microglial co‐implantation enhances CD8+ T cell infiltration, elevates Granzyme B, lowers circulating MDSCs, and extends survival only in immune‐competent mice, but not in immune‐deficient mice.
Tzu‐Chieh Sun   +5 more
wiley   +1 more source

Normalization of Naxos plakoglobin levels restores cardiac function in mice [PDF]

open access: yesJournal of Clinical Investigation, 2015
Arrhythmogenic cardiomyopathy (AC) is associated with mutations in genes encoding intercalated disc proteins and ultimately results in sudden cardiac death. A subset of patients with AC have the autosomal recessive cardiocutaneous disorder Naxos disease, which is caused by a 2-base pair deletion in the plakoglobin-encoding gene JUP that results in a ...
Zhang, Zhiwei   +13 more
openaire   +4 more sources

Cardiac sarcoidosis with severe involvement of the right ventricle: a case report

open access: yesAutopsy and Case Reports, 2015
We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed ...
Weverton César Siqueira   +6 more
doaj   +1 more source

Force dependent biotinylation of myosin IIA by α-catenin tagged with a promiscuous biotin ligase. [PDF]

open access: yesPLoS ONE, 2015
Tissues and organs undergo constant physical perturbations and individual cells must respond to mechanical forces to maintain tissue integrity. However, molecular interactions underlying mechano-transduction are not fully defined at cell-cell junctions ...
Shuji Ueda   +4 more
doaj   +1 more source

Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover. [PDF]

open access: yes, 2012
Protein turnover through cullin-3 is tightly regulated by posttranslational modifications, the COP9 signalosome, and BTB/POZ-domain proteins that link cullin-3 to specific substrates for ubiquitylation.
Chen, Ju   +3 more
core   +2 more sources

A Decoy Oligodeoxynucleotides Disturbing Forkhead Box O3 Mediated ctnna2 Transcriptional Repression Prevents Postoperative Neurocognitive Disorder in Mice

open access: yesCNS Neuroscience &Therapeutics, Volume 31, Issue 8, August 2025.
Rs12472215 A>T mutation induces enhanced transcriptional inhibition of Foxo3 on ctnna2 in humans. Alterations in the Sirt1‐Foxo3/Ascl1‐ctnna2 axis and reduction of α‐N‐catenin are involved in a mouse model of PND. A decoy that disturbs the interaction between Foxo3 and ctnna2 prevents PND in mice (Created in BioRender. Deng, J. (2025), http://BioRender.
Zhixin Wu   +12 more
wiley   +1 more source

DEAD‐Box Helicase 6 Blockade in Brain‐Derived Aβ Oligomers From Alzheimer's Disease Patients Attenuates Neurotoxicity

open access: yesMedComm, Volume 6, Issue 5, May 2025.
We identified four proteins (DSP, JUP, HRNR, and DDX6) that bind to amyloid‐beta (Aβ) oligomers derived from the brains of Alzheimer's disease (AD) patients. Among these four proteins, only the blockade of DEAD‐box helicase 6 (DDX6) in AD brain‐derived Aβ oligomers attenuated their neurotoxicity.
Xiaoxu Wang   +10 more
wiley   +1 more source

Defining the Roles of .BETA.-catenin and Plakoglobin in Cell-cell Adhesion: Isolation of .BETA.-catenin/plakoglobin-deficient F9 Cells

open access: yesCell Structure and Function, 2005
F9 teratocarcinoma cells in which beta-catenin and/or plakoglobin genes are knocked-out were generated and investigated in an effort to define the role of beta-catenin and plakoglobin in cell adhesion. Loss of beta-catenin expression only did not affect cadherin-mediated cell adhesion activity.
Yoshitaka, Fukunaga   +5 more
openaire   +3 more sources

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