Results 221 to 230 of about 821,530 (308)

Whole Genome Amplification (WGA) for archiving and genotyping of clinical isolates of Cryptosporidium species [PDF]

, 2009
Blanco, DARREN HEAVENS, Esteban, Han, KEVIN M. TYLER, KRISTIN ELWIN, MAHA BOUZID, Nelson, PAUL R. HUNTER, Paunio, RACHEL M. CHALMERS, STEPHEN J. HADFIELD   +11 more
core   +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

Isolation, genomic characterization, and pathogenicity of an emerging PEDV variant in Korea related to virulent Chinese strains. [PDF]

Front Vet Sci
Lee DK, Park J, Kim SC, Kim HJ, Kwon JH, Lyoo YS, Kim WI, Park CK, Kim HR.   +8 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Genomic characterization of Staphylococcus epidermidis Se252 isolated from the rhizosphere of a Brazilian endemic plant. [PDF]

BMC Genomics
Sanchez AB, Lemes CGC, Cordeiro IF, Caneschi WL, Barbosa ÉF, de Paula CH, da Silva AK, Ribeiro DF, de Matos RC, de Matos JP, Rocha LCM, Damasceno MRA, Garcia CCM, Setubal JC, de Mello Varani A, Almeida NF, Moreira LM.   +16 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Genomic characterization of mobile genetic elements associated with antimicrobial resistance in <i>Streptococcus pneumoniae</i> from Australia. [PDF]

Microb Genom
Sunmonu GT, Coldbeck-Shackley RC, Graham RMA, Leong LE, Ogunniyi AD, Sheppard AE.   +5 more
europepmc   +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

Pharmaco-genomic characterization of pancreatic and biliary tract cancer tumoroids for drug response. [PDF]

iScience
Fang K, Zhang W, Zhao Q, Hong Y, Wang R, Yang B, Zhao Y, Shi Y, Zhou B, Ding J, Fang Y, Chen Y.   +11 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