Results 81 to 90 of about 9,938 (215)

Novel Therapeutics for Chronic Obstructive Pulmonary Disease: From Empirical Bronchodilation to Precision Medicine

Respirology, Volume 31, Issue 6, Page 561-577, June 2026.
ABSTRACT Chronic obstructive pulmonary disease (COPD) remains the third leading cause of death worldwide, and conventional bronchodilator‐based therapies have limited efficacy in preventing exacerbations and disease progression. The 2024–2026 period represents a historic inflection point: three mechanistically distinct agents received Food and Drug ...
Naoya Fujino, Hisatoshi Sugiura
wiley   +1 more source

Desmoplakin: an unexpected regulator of microtubule organization in the epidermis [PDF]

The Journal of Cell Biology, 2007
Despite their importance in cell shape and polarity generation, the organization of microtubules in differentiated cells and tissues remains relatively unexplored in mammals. We generated transgenic mice in which the epidermis expresses a fluorescently labeled microtubule-binding protein and show that in epidermis and in cultured keratinocytes ...
Lechler, Terry, Fuchs, Elaine
openaire   +2 more sources

FRAP analysis reveals stabilization of adhesion structures in the epidermis compared to cultured keratinocytes. [PDF]

PLoS ONE, 2013
Proper development and tissue maintenance requires cell-cell adhesion structures, which serve diverse and crucial roles in tissue morphogenesis. Epithelial tissues have three main types of cell-cell junctions: tight junctions, which play a major role in ...
Henry P Foote, Kaelyn D Sumigray, Terry Lechler   +2 more
doaj   +1 more source

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. [PDF]

, 2018
OBJECTIVES: The purpose of this study was to assess the phenotype of Filamin C (FLNC) truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism leading to an arrhythmogenic phenotype. BACKGROUND: Mutations in FLNC are known to lead
Abecasis, Asimaki, Asimaki, Asimaki, Begay, Brodehl, Campbell, Chelko, Daughenbaugh, Deo, Furst, Golbus, Gontier, Haas, Hershberger, Kley, Kley, Landrum, Lek, Liu, Marcus, Mestroni, Ortiz-Genga, Rowland, Spezzacatene, Valdes-Mas, van, Wang, Wu, Zhou   +29 more
core   +2 more sources

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source

Molecular Changes Induced by Carbon Dioxide Laser in Hailey‐Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy

International Journal of Dermatology, Volume 65, Issue 4, Page 797-805, April 2026.
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Javier Antoñanzas, Agustín España, Ana Gorostidi, Ana Patiño‐García, Marcos J. Araúzo‐Bravo, Daniela Gerovska, Rafael Salido‐Vallejo, Leyre Aguado‐Gil   +7 more
wiley   +1 more source

Desmoplakin cardiomyopathy: case report

European Heart Journal - Case Reports
Abstract Background Desmoplakin (DSP) cardiomyopathy is a distinct form of cardiomyopathy characterized by frequent left ventricular involvement with extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury. Case summary
Ayman Helal, Mohamed Alama, Wael Ali, Mohsen Farooq   +3 more
openaire   +2 more sources

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. [PDF]

, 2019
BACKGROUND: Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype.
Aguilera, B, Akhtar, MM, Asimaki, A, Dalageorgou, C, Futema, M, Gimeno, JR, Hall, CL, Hernández, JP, McKenna, WJ, Molina, P, Pastor, F, Pittman, AM, Protonotarios, A, Sabater-Molina, M, Suarez, MP, Syrris, P, Zorio, E   +16 more
core   +2 more sources

Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases

MedComm, Volume 7, Issue 3, March 2026.
This study examined hemidesmosome assembly‐related genes in pemphigoid diseases, revealing variants linked to disease onset and severity. Functional analyses, including Caenorhabditis elegans models, Ker‐CT transcriptomics, human proteomics, etc., demonstrated that ITGA6 mutations destabilize hemidesmosomes, disrupt dermal–epidermal adhesion, and ...
Shan Cao, Tianyu Wang, Chen Lv, Shanshan Ma, Gongqi Yu, Qianqian Xia, Tingting Liu, Yueqian Yu, Lele Sun, Xiaoyan Pei, Qing Zhao, Zhenzhen Wang, Chuan Wang, Yongxia Liu, Shengli Chen, Jianwen Wang, Guizhi Zhou, Hong Liu, Yonghu Sun, Furen Zhang   +19 more
wiley   +1 more source