Results 101 to 110 of about 38,917 (265)

Proteomic Perspectives on KRAS-Driven Cancers and Emerging Therapeutic Approaches

Current Oncology
KRAS mutations are implicated in approximately 23% of all human malignancies, with particularly high prevalence in pancreatic ductal adenocarcinoma (PDAC) (~92%), colorectal cancer (CRC) (~49%), and non-small cell lung cancer (NSCLC) (~35%).
Ramesh Karki, Ru Chen, Sheng Pan
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

DYRK1A roles in human neural progenitors

Frontiers in Neuroscience
IntroductionMutations in dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) represent one of the most prevalent monogenic causes of neurodevelopmental disorders (NDDs), often associated with intellectual developmental disorder and ...
Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Angélique Quartier, Angélique Quartier, Angélique Quartier, Angélique Quartier, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Johan Gilet, Johan Gilet, Johan Gilet, Johan Gilet, Alexandra Benchoua, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton   +30 more
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Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Periodontal microbiology and microbial etiology of periodontal diseases: Historical concepts and contemporary perspectives

Periodontology 2000, EarlyView., 2023
Abstract This narrative review summarizes the collective knowledge on periodontal microbiology, through a historical timeline that highlights the European contribution in the global field. The etiological concepts on periodontal disease culminate to the ecological plaque hypothesis and its dysbiosis‐centered interpretation.
Georgios N. Belibasakis, Daniel Belstrøm, Sigrun Eick, Ulvi K. Gursoy, Anders Johansson, Eija Könönen   +5 more
wiley   +1 more source

Exploring the potential relevance of microRNAs targeting the ARVC-related gene interaction network to cancer: an in silico testing hypothesis

Journal of Biological Research - Thessaloniki
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a genetic disorder of the myocardium. Mutations in the PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN and DES genes which encode proteins of the cardiac desmosome have been linked to the disease yet, the
Athanasios Balaskas, Argyris Dallis, Sotirios G Zarogiannis, Chrissi Hatzoglou, Konstantinos I Gourgoulianis, Erasmia Rouka   +5 more
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Comparative Transcriptional Profiling of Key Macrophage and Fibroblast Subpopulations in Rheumatoid Arthritis–Associated Lung Disease

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) often involves extra‐articular complications, including interstitial lung disease (ILD) and/or pulmonary nodules. Transcriptomic profiling of lung tissue provides the opportunity to directly assess cell‐specific gene expression and corresponding pathway activation in different types of rheumatoid lung disease ...
Tracy Tabib, Ogechukwu Ezenwa, Joshua Sciurba, Eleanor B. Valenzi, John Sembrat, Brittany Cody, Jishnu Das, Robert Lafyatis, Dana P. Ascherman   +8 more
wiley   +1 more source

Mitochondria‐endoplasmic reticulum organelle glue as maturation promoter for origination/dimensional dual‐cross cardiomyocytes

BMEMat, EarlyView.
Mitochondria‐endoplasmic reticulum contact sites (MERCS) are areas where the mitochondria and endoplasmic reticulum closely interact. In this study, we utilize synthetic organelle glues to artificially engineer MERCS for regulating cardiomyocyte development, through which the immature and chemo‐plasticity issues of undifferentiated cells are addressed.
Wei Tang, Hao Sun, Chenqi Duan, Jiajia Chang, Yuxing Wang, Ming Zhao, Huiyue Zhao, Shan Lu, Yang Yang, Da Huo   +9 more
wiley   +1 more source

In silico analysis of putative interactions identifies fibroblasts as hubs for cell–cell communication during early regeneration of the zebrafish heart

Developmental Dynamics, EarlyView.
Abstract Background The zebrafish heart regenerates upon injury. During injury response, fibroblasts and endothelial cells accumulate at the site of damage, and cardiomyocyte cell cycle reentry allows cardiac muscle regrowth. It is relevant to understand how the different cell types communicate with each other to coordinate regeneration.
João A. S. Carvalho, Prateek Arora, Ines J. Marques, María Galardi‐Castilla, Louk Timmer, Eva van Rooij, Nadia Mercader   +6 more
wiley   +1 more source

Integrative Bioinformatic Approach for microRNA Interactome Networks in Human Papillomavirus-16 Infection

Eurasian Journal of Medicine
Objective: High-risk human papillomavirus (HPV), particularly HPV-16, is a major driver of carcinogenesis. Despite advances in understanding HPV-mediated oncogenesis, the role of microRNA (miRNA) interactome networks in HPV-16-driven tumorigenesis ...
Berkcan Doğan
doaj   +1 more source