Results 171 to 180 of about 207,653 (256)
American 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects
Animal 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
Animal Models and Experimental Medicine, EarlyView.This narrative review discusses animal models of exosome‐based myocardial infarction treatments. Emerging techniques aim to improve exosome stability, targeting, and bioavailability for MI treatment as drug delivery vehicles and regenerative mediators that promote myocardial regeneration. Abstract Exosomes have emerged as promising therapeutic carriers,
Chayanisa Phutiyothin +2 more
wiley +1 more source
Somatic Mutations in Acquired Pure Red Cell Aplasia: Incidence and Implications
American Journal of Hematology, EarlyView.
Robert T. Means Jr
wiley +1 more source
Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies
Animal Models and Experimental Medicine, EarlyView.This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang +4 more
wiley +1 more source
History of organ transplantation via the two-way paradigm [PDF]
, 1999 Demetris, AJ, Murase, N, Starzl, TE
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Humanized immune system animal models and their recent applications
Animal Models and Experimental Medicine, EarlyView.In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli +6 more
wiley +1 more source