Results 111 to 120 of about 270,206 (261)

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Single Nucleotide Polymorphism Map [PDF]

, 2020
openaire   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Massively parallel jumping assay decodes Alu retrotransposition activity

Nature Communications
The human genome contains millions of copies of retrotransposons that are silenced but many of these copies have potential to become active if mutated, having phenotypic consequences, including disease.
Navneet Matharu, Jingjing Zhao, Ajuni Sohota, Linbei Deng, Yan Hung, Zizheng Li, Kelly An, Jasmine Sims, Sawitree Rattanasopha, Thomas J. Meyer, Lucia Carbone, Martin Kircher, Nadav Ahituv   +12 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Effects of Causal Beliefs About Gout on Public Views About Gout Management: A Randomized Experimental Study

Arthritis Care &Research, EarlyView.
Objective Despite well‐described biologic causes, the public views unhealthy lifestyle choices as the primary cause of gout. This study investigated how causal beliefs about gout influence the public's views about its management. Methods In a randomized study, 201 members of the public viewed one of two 2‐minute videos about gout.
Rachel Murdoch, Borislav Mihov, Anne Horne, Keith J. Petrie, Gregory D. Gamble, Lachlan Fleck, Nicola Dalbeth   +6 more
wiley   +1 more source

DNA‐Templated 2D Heterostructures as Phototriggered Dynamic Nanohybrids: From Releasing Molecular Loads to Controlling Enzyme Biocatalytic Function

Advanced Functional Materials, EarlyView.
DNA strands are employed both as dynamic linkers and nanoscale templates for the integration of Ag2S nanoparticles on MoS2, which in turn imparted photothermal responsiveness; this feature permits the selective cargo (fluorophore, quantum dots or an enzyme) release from the MoS2 surface in response to local heat induced by light irradiation.
Kai Chen, Haosen Miao, Weiying Hong, Matteo Palma   +3 more
wiley   +1 more source

Exploring an Alternative to mRNA Vaccine Cold Chain Storage: MRNA‐Lipid Nanoparticle Stability When Dried in a Polymer Matrix

Advanced Functional Materials, EarlyView.
The nanostructure, size, and function of mRNA‐loaded lipid nanoparticles are evaluated before drying, within polymer microneedles, and after rehydration. The results reveal the polymer and LNP loadings required to recover nanostructure and preserve the delivery performance in dry‐state formulations.
Brendan P. Dyett, Shahad K. Alsaiari, John L. Daristotle, Timothy A. Forster, Alicia Lau, Dhruv Varshney, Rania Afaneh, Andrew R. Hanna, Charles Sloane, David Mankus, Haitao Yu, Jiali Zhai, DongSoo Yun, Lisa H. Tostanoski, Abigail Lytton‐Jean, Dan H. Barouch, Charlotte E. Conn, Robert Langer, Ana Jaklenec, Calum J. Drummond   +19 more
wiley   +1 more source