Results 101 to 110 of about 161,313 (308)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Brief communication: The Danish replicate drilling system – results from the first field test [PDF]

The Cryosphere
We report on the successful test of a new replicate drilling system for ice cores. The test was done in drill fluid, at 140 m depth in the East Greenland Ice Core Project (EastGRIP) borehole in central Greenland.
J. Westhoff, G. V. Boeckmann, N. M. Rathmann, S. B. Hansen   +3 more
doaj   +1 more source

Ice Cores as a Source for Antimicrobials: From Bioprospecting to Biodesign. [PDF]

Biodes Res, 2023
Lee YJ, Javdan B.
europepmc   +1 more source

Mechanical anisotropy of deep ice core samples by uniaxial compression tests (scientific paper) [PDF]

, 2003
Mechanical anisotropy of ice core samples has been observed in various uniaxial compression tests. The c-axis orientation distribution is the primary influence on the mechanical behavior of ice cores. A strong single-maximum fabric pattern is observed in
Hondoh, Takeo, Hyakutake, Kinji, Miyamoto, Atsushi, Narita, Hideki, Shimohara, Kimiko, Shoji, Hitoshi, 庄子, 仁   +6 more
core   +2 more sources

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Hybrid Targeted/Untargeted Screening Method for the Determination of Wildfire and Water-Soluble Organic Tracers in Ice Cores and Snow. [PDF]

Anal Chem, 2023
Burgay F, Salionov D, Huber CJ, Singer T, Eichler A, Ungeheuer F, Vogel A, Schwikowski M, Bjelić S.   +8 more
europepmc   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Sulfur-isotope anomalies recorded in Antarctic ice cores as a potential proxy for tracing past ozone layer depletion events. [PDF]

PNAS Nexus, 2022
Dasari S, Paris G, Charreau J, Savarino J.   +3 more
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Fast Liquid Chromatography Coupled with Tandem Mass Spectrometry for the Analysis of Vanillic and Syringic Acids in Ice Cores. [PDF]

Anal Chem, 2022
Barbaro E, Feltracco M, Spagnesi A, Dallo F, Gabrieli J, De Blasi F, Zannoni D, Cairns WRL, Gambaro A, Barbante C.   +9 more
europepmc   +1 more source