Results 141 to 150 of about 2,304,211 (377)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin +12 more
wiley +1 more source
The role of sequence information in minimal models of molecular assembly
Journal of Physics: ComplexitySequence-directed assembly processes—such as protein folding—allow the assembly of a large number of structures with high accuracy from only a small handful of fundamental building blocks.
Jeremy Guntoro, Thomas E Ouldridge
doaj +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Limited asymptomatic carriage of Pneumocystis jiroveci in human immunodeficiency virus-infected patients [PDF]
, 2003 Forty-seven bronchoalveolar lavage fluid samples from 16 human immunodeficiency virus (HIV)-infected patients were used to test the latency model of Pneumocystis infection in the human host.
Ambrose, HE +4 more
core
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Two Examples of the -D-/-D- Genotype in an American Family [PDF]
, 1953 R. K. Waller, Ruth Sanger, O. B. Bobbitt
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source