Results 221 to 230 of about 213,374 (313)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho   +9 more
wiley   +1 more source

Sex as a biological variable in nonclinical studies: Bridging scientific rigor, animal welfare, and regulatory expectations

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma   +2 more
wiley   +1 more source

Graft versus host disease (GVHD) after BN to LEW compared to LEW to BN rat intestinal transplantation under FK 506 [PDF]

open access: yes, 1993
Demetris, AJ   +6 more
core  

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu   +12 more
wiley   +1 more source

Generation of virus specific cytotoxic T cells in vitro [PDF]

open access: yes, 1979
Greber, D.   +2 more
core  

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