Jon D. Wilson
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View article: High-Fidelity CRISPR-Cas12a–Based Apolipoprotein L1 Genotyping
High-Fidelity CRISPR-Cas12a–Based Apolipoprotein L1 Genotyping Open
Key Points A protospacer adjacent motif sequence is not required for CRISPR-Cas12a–mediated cis-cleavage of apolipoprotein L1 risk allele sequences. Discrimination of both single-nucleotide and insertion/deletion variants can be accurately…
View article: Clinical Images: Sporadic inclusion body myositis in American Indian/Alaska Native patient with overlap of rheumatoid arthritis and Sjögren disease
Clinical Images: Sporadic inclusion body myositis in American Indian/Alaska Native patient with overlap of rheumatoid arthritis and Sjögren disease Open
The patient, an American Indian/Native American female aged 63 years, presented with a chronic symmetric inflammatory polyarthropathy, asymmetric proximal and distal muscle weakness specifically of the flexor digitorum profundus and the qu…
View article: Effect of chemotherapy on cancer stem cells and tumor-associated macrophages in a prospective study of preoperative chemotherapy in soft tissue sarcoma
Effect of chemotherapy on cancer stem cells and tumor-associated macrophages in a prospective study of preoperative chemotherapy in soft tissue sarcoma Open
In conclusion, ALDH1, CD44, and CD133 are not likely to be useful markers of CSCs in STS. However, our observation of infiltrating macrophages in STS specimens indicates that these immune cells may contribute significantly to STS biology a…
View article: Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion–related nephronophthisis on renal biopsy
Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion–related nephronophthisis on renal biopsy Open
Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy that is a leading genetic etiology of end-stage renal disease in children and young adults. Approximately 60% of patients with a known genetic etiology of nephronoph…
View article: Complete and sustained response of adult medulloblastoma to first-line sonic hedgehog inhibition with vismodegib
Complete and sustained response of adult medulloblastoma to first-line sonic hedgehog inhibition with vismodegib Open
Medulloblastoma is an aggressive primitive neuroectodermal tumor of the cerebellum that is rare in adults. Medulloblastomas fall into 4 prognostically significant molecular subgroups that are best defined by experimental gene expression pr…
View article: Prevalence and organ distribution of leukocyte chemotactic factor 2 amyloidosis (ALECT2) among decedents in New Mexico
Prevalence and organ distribution of leukocyte chemotactic factor 2 amyloidosis (ALECT2) among decedents in New Mexico Open
Leukocyte chemotactic factor 2 (LECT2) amyloidosis is one of the most recently described types of amyloidosis. Since its description, it has been found to be one the most common types of amyloidosis in large series of amyloid cases involvi…