Results 181 to 190 of about 3,033,431 (331)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Investigating size and surface modification to optimise the delivery of nanodiamonds to brain glial cells. [PDF]

Discov Nano
Takahashi M, Takada A, Suzuki C, Kaminaga K, Yoshioka M, Handa M, Kershaw J, Abe H, Ohshima T, Igarashi R, Takuwa H.   +10 more
europepmc   +1 more source

INFECTION BY BACTERIOPHAGE T5 AND ITS INTRACELLULAR GROWTH—A STUDY BY COMPLEMENT FIXATION [PDF]

, 1954
Yvonne Théry Lanni
openalex   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Deoxycholic acid induces reactive oxygen species accumulation and promotes colorectal cancer cell apoptosis through the CaMKII-Ca²⁺ pathway. [PDF]

World J Gastrointest Oncol
Chen JY, Wen JY, Lin JL, Li Y, Wu YZ, Lou LQ, Lou YL, Zuo ZG, Li X.   +8 more
europepmc   +1 more source

Intracellular distribution of choline acetylase

, 1956
Catherine O. Hebb, B. N. Smallman
openalex   +2 more sources

THE INTRACELLULAR LOCALIZATION OF POLIOMYELITIS VIRUS [PDF]

, 1953
Albert S. Kaplan, Joseph L. Melnick
openalex   +1 more source

Forskolin Enhances Urokinase Plasminogen Activator Secretion and Angiogenic Activity of Xeno‐Free Cultures of Human Adipose Tissue‐Derived Stem Cells

Advanced Biology, EarlyView.
The regenerative potential of adipose tissue‐derived stem cells can be enhanced through chemical stimulation in vitro. A short stimulation protocol using forskolin, either alone or in combination with other growth factors, under xeno‐free conditions enhanced the pro‐angiogenic responses in human ASCs.
Maria Vittoria Giraudo, Anne Therese Lauvrud, Rebecca Wiberg, Maria Brohlin, Gustav Andersson, Paul J Kingham   +5 more
wiley   +1 more source

Latent microbial reactivation and immune dysregulation in sarcoidosis: bridging pathogenesis and precision therapeutics. [PDF]

Front Med (Lausanne)
Sawahata M, Uchida K, Furukawa A, Eishi Y, Maemondo M.   +4 more
europepmc   +1 more source