Results 81 to 90 of about 61,842 (198)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source

RAC1P29S is a spontaneously activating cancer-associated GTPase

Proceedings of the National Academy of Sciences of the United States of America, 2013
RAC1 is a small, Ras-related GTPase that was recently reported to harbor a recurrent UV-induced signature mutation in melanoma, resulting in substitution of P29 to serine (RAC1P29S), ranking this the third most frequently occurring gain-of-function ...
Matthew J. Davis, B. Ha, Edna C. Holman, R. Halaban, J. Schlessinger, T. Boggon   +5 more
semanticscholar   +1 more source

Systemic circulating microRNA landscape in Lynch syndrome

International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023
What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen, Tia‐Marje Korhonen, Tiina Jokela, Maarit Ahtiainen, Laura Lahtinen, Teijo Kuopio, Anna Lepistö, Elina Sillanpää, Jukka‐Pekka Mecklin, Toni T. Seppälä, Eija K. Laakkonen   +10 more
wiley   +1 more source

p140mDia, a mammalian homolog of Drosophila diaphanous,is a target protein for Rho small GTPase and is a ligand for profilin

EMBO Journal, 1997
Rho small GTPase regulates cell morphology, adhesion and cytokinesis through the actin cytoskeleton. We have identified a protein, p140mDia, as a downstream effector of Rho.
N. Watanabe, P. Madaule, T. Reid, T. Ishizaki, Go Watanabe, A. Kakizuka, Yuji Saito, K. Nakao, B. Jockusch, S. Narumiya   +9 more
semanticscholar   +1 more source

Deficiency of DEK proto‐oncogene alleviates allergic rhinitis by inhibiting RhoA/Ezrin‐mediated mitochondrial fission

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the mechanism of DEK regulating RhoA activation Ezrin. Upon house dust mite (HDM) stimulation, HDM‐specific immunoglobulin E (IgE) and inflammatory factors such as interleukin 4 (IL‐4), IL‐5, IL‐13, and eosinophils increased in the nasal mucosa.
Longzhu Dai, Yongde Jin, Jingmei Chai, Jianing Yang, Jiangang Wang, Mu Chen, Liangchang Li, Chongyang Wang, Guanghai Yan   +8 more
wiley   +1 more source

RNA‐Based Biopesticides: Pioneering Precision Solutions for Sustainable Aquaculture in China

Animal Research and One Health, EarlyView.
The Chinese dragon represents RNA biopesticides, which effectively counteract bacterial, viral, and parasitic threats, safeguarding aquatic life. This method is precise, focusing solely on harmful agents and sparing beneficial aquaculture species. Its innovative nature protects aquatic environments while reducing ecological footprint.
Yiran Huang, Yingmin Dai, Zhuotong Huang, Mengqi Zhang, Lijun Xiu, Xianhui Zhang, Youyu Zhang, Lixing Huang   +7 more
wiley   +1 more source

Structures and functions of cilia during vertebrate embryo development

Molecular Reproduction and Development, Volume 89, Issue 12, Page 579-596, December 2022., 2022
Abstract Cilia are hair‐like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium that mediates cell signaling, and some specialized cells assemble one or multiple cilia that are motile and beat synchronously to move fluids in one direction.
Jeffrey D. Amack
wiley   +1 more source

Dynamic Plasma Membrane Topography Linked With Arp2/3 Actin Network Induction During Cell Shape Change

BioEssays, EarlyView.
Cell shape changes underlie animal development, physiology, and disease. The cell surface is mechanosensitive to the microenvironment and cytoskeleton activities, which generate plasma membrane topographies recognized and affected by Arp2/3 actin network induction pathways to remodel cell shape during immune cell migration, neural progenitor cell ...
Tony J. C. Harris
wiley   +1 more source

Effects of Polyphenolic Extracts From Sumac, Pomegranate Peel, Indian Almond Leaves, Falsa, and Banana Bracts on Calcium Oxalate and Brushite Crystallization In Vitro

Chemistry &Biodiversity, EarlyView.
Polyphenolic extracts and their fractions from five plant sources inhibit calcium oxalate and brushite crystal formation in vitro, with non‐anthocyanin fractions showing stronger anti‐lithogenic effects supported by molecular docking. ABSTRACT Nephrolithiasis, or kidney stone formation, is a widespread global health concern.
Mudassir Nazir, Muhammad Abdul Haq, Syeda Moahida Batool Sherazi, Shahina Naz, Lubna Mobin, Alexandros Tsoupras   +5 more
wiley   +1 more source