Results 181 to 190 of about 667,007 (283)
SARS-CoV-2 antibodies seroprevalence in dogs from France using ELISA and an automated western blotting assay. [PDF]
Laidoudi Y +12 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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 +21 more
wiley +1 more source
Biochemical Properties of CARM1: Impact on Western Blotting and Proteomic Studies. [PDF]
Bourassa J +3 more
europepmc +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Utility of a commercial antibody against NTRK1 for western blotting and potential application to immunohistochemistry in adult mouse brain. [PDF]
Nakajima K, Ishiwata M, Kato T.
europepmc +1 more source
Differentiation of endogenous erythropoietin and exogenous ESAs by Western blotting. [PDF]
Yasuoka Y +17 more
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Author Correction: Utility of a commercial antibody against NTRK1 for western blotting and potential application to immunohistochemistry in adult mouse brain. [PDF]
Nakajima K, Ishiwata M, Kato T.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source

