Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
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 +13 more
wiley +1 more source
Outer Retina Rupture from Subretinal Blood with Spontaneous Sealing and Visual Recovery in Frosted Branch Angiitis from Familial Mediterranean Fever: A Case Report. [PDF]
Vofo BN, Amer R.
europepmc +1 more source
Tuning Ice Nucleation by Mussel-Adhesive Inspired Polyelectrolytes: The Role of Hydrogen Bonding [PDF]
Bonn, M. +7 more
core +1 more source
Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
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 +10 more
wiley +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
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 +9 more
wiley +1 more source
Bio‐based and (semi‐)synthetic zwitterion‐modified novel materials and fully synthetic next‐generation alternatives show the importance of material design for different biomedical applications. The zwitterionic character affects the physiochemical behavior of the material and deepens the understanding of chemical interaction mechanisms within the ...
Theresa M. Lutz +3 more
wiley +1 more source
Frost formation through super-cooled water within micron gap of galvanic coupled arrays. [PDF]
Mekawy M +3 more
europepmc +1 more source
Performance and Optimization Analysis of Adsorption Chiller with Mass Recovery and Heat Recovery [PDF]
夏再忠, 王如竹, 陆紫生
core +1 more source
We introduce a nucleic acid nanoparticle (NANP) platform designed to be rrecognized by the human innate immune system in a regulated manner. By changing chemical composition while maintaining constant architectural parameters, we identify key determinants of immunorecognition enabling the rational design of NANPs with tunable immune activation profiles
Martin Panigaj +21 more
wiley +1 more source
Cryofouling avoidance in the Antarctic scallop Adamussium colbecki. [PDF]
Wong WSY, Hauer L, Cziko PA, Meister K.
europepmc +1 more source

