Results 271 to 280 of about 145,125 (343)
Currently, the animals commonly used to establish animal models of benign airway stenosis (BAS) include mice, rats, pigs, dogs, rabbits, and ferrets. The establishment methods involve one or a combination of two methods such as mechanical injury, tracheal cautery, cuff overpressure intubation, laser injury, and endoscopic silver nitrate cauterization ...
Wusheng Zhang +6 more
wiley +1 more source
Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation. [PDF]
NoorSaeed SM +4 more
europepmc +1 more source
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud +3 more
wiley +1 more source
Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept. [PDF]
Kang Z, Zhang L.
europepmc +1 more source
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Human inborn errors of type I interferon-independent intrinsic immunity in nonleukocytic cells. [PDF]
Zhang SY, Casanova JL, Spaan AN.
europepmc +1 more source
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen +8 more
wiley +1 more source
Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]
Nasri M +4 more
europepmc +1 more source

