Results 171 to 180 of about 1,051,957 (289)

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

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

open access: yesAngewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo   +3 more
wiley   +2 more sources

Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...
Gang Zhou   +6 more
wiley   +1 more source

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