Results 191 to 200 of about 661,661 (299)

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

Grizzly bear population genomics across a coastal-interior ecotone in British Columbia, Canada. [PDF]

G3 (Bethesda)
Henson LH, Christensen KA, Sutherland BJG, Johnson HA, vonHoldt B, Stronen AV, Paquet PC, Moody J, Koop BF, Darimont CT.   +9 more
europepmc   +1 more source

Role of Prednisone and 25‐Hydroxyvitamin D on Bone Mineral Density and Osteoporosis in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We evaluated the role of 25‐hydroxyvitamin D (25[OH]D), prednisone, and other risk factors for bone mineral density (BMD) loss and osteoporosis in systemic lupus erythematosus (SLE). Methods We calculated the association between 25(OH)D levels and other potential risk factors and BMD measures (spine T scores) and osteoporosis (defined as a T ...
Nima Madanchi, Andrea Fava, Daniel W. Goldman, Laurence S. Magder, Michelle Petri   +4 more
wiley   +1 more source

Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics. [PDF]

Genes (Basel)
Pilenzi L, Scorrano V, Di Rado S, Buccolini C, Giansante R, Siciliani L, Stuppia L, Gatta V, Capalbo A.   +8 more
europepmc   +1 more source

A Lightweight Procedural Layer for Hybrid Experimental–Computational Workflows in Materials Science

Advanced Engineering Materials, EarlyView.
We unveil a prototype hybrid‐workflow framework that fuses automatedcomputation with hands‐on experiments. Built atop pyiron, a lightweight, parameterized layer translates procedure descriptions into executable manual steps, syncing instrument settings, human interventions, and data capture in real‐time today.
Steffen Brinckmann, Sarath Menon, Raphael Röske, Johannes Steinhülb, Michael Selzer, Jan Janssen, Tilmann Hickel, Ruth Schwaiger, Jörg Neugebauer   +8 more
wiley   +1 more source

Simultaneous population genomics of hosts and their parasites with selective whole genome amplification. [PDF]

Parasit Vectors
Ellis VA, Theodosopoulos A, Sharma I, Bardil A, Stjernman M, Hellgren O.   +5 more
europepmc   +1 more source

A Surface‐engineered Microfluidic Device for Antibody‐Mediated Negative Selection of High‐Quality Sperm for Assisted Reproduction

Advanced Functional Materials, EarlyView.
This study reports a microfluidic device with a functionalized surface utilizing a polyoxazoline coating and covalently immobilized gold nanoparticles and anti‐phosphatidylserine antibody. The device efficiently eliminates pre‐apoptotic and apoptotic spermatozoa and yields sperm with substantially improved quality and low DNA damage, offering a simple ...
Soraya Rasi Ghaemi, David J. Sharkey, Nicole O. McPherson, Markos Negash Alemie, Krasimir Vasilev, Sarah A. Robertson   +5 more
wiley   +1 more source

Population genomics reveals genetic structure and dispersal sources of the invasive herb <i>Solanum rostratum</i> in northern China. [PDF]

Front Plant Sci
Hao L, Liu Y, Wu Q, Li Y, Guo L, Wang H, Wang R, Lin K.   +7 more
europepmc   +1 more source

An Engineered Living Material With Pro‐Angiogenic Activity Inducible by Near‐Infrared Light

Advanced Functional Materials, EarlyView.
NIR‐responsive engineered living materials (ELMs) for controlled angiogenesis: Near‐infrared (800 nm) light activates engineered probiotic bacteria within alginate‐based living materials to secrete a blood vessel‐regenerating protein. The released protein promotes pro‐angiogenic effects in endothelial networks and chick chorioallantoic membranes.
Anwesha Chatterjee, Stefanie S. M. Meier, Sara Trujillo, Andreas Möglich, Shrikrishnan Sankaran   +4 more
wiley   +1 more source

Global population genomics redefines domestication and clinical diversity in the <i>Aspergillus flavus-oryzae</i> complex. [PDF]

IMA Fungus
Pfliegler WP, Németh B, Bodnár V, Pusztahelyi T, Carbone I, Pócsi I.   +5 more
europepmc   +1 more source