Results 141 to 150 of about 156,383 (305)
Journal of Clinical Laboratory Analysis, EarlyView.ABSTRACT Background Activating mutations in NOTCH1 are frequent in T‐cell acute lymphoblastic leukemia (T‐ALL) and, in the absence of alterations in RAS or PTEN, are associated with favorable prognosis. Besides classical heterodimerization and PEST domain mutations, juxtamembrane internal tandem duplications (JME‐ITDs) represent a third class of ...
Francisco Beas +8 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.We evaluated the cfBEST assay for non‐invasive prenatal testing of α‐ and β‐thalassemia in 72 families. The assay correctly identified 88 of 93 fetal alleles, achieving an overall accuracy of 94.6%, a sensitivity of 94%, and a specificity of 95.35%, with 100% concordance with postnatal follow‐up.
Qin Liu +7 more
wiley +1 more source
Determination of linkage disequilibrium region suggests association of the ancient haplotype, hX with neural function [PDF]
, 2011 Modern human populations are known to contain "ancient haplotypes" that originated from archaic humans by hybridization. Some of them had been reported before the development of human genomic diversity databases, such as HapMap. Consequently,
Tsutomu Kanasashi, Makoto Shimada
core +1 more source
BiologyThe slow experimental acquisition of high-quality atomic structures of the rapidly changing proteins of the COVID-19 virus challenges vaccine and therapeutic drug development efforts.
Muhammad Asif Ali +1 more
doaj +1 more source
Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment
JEADV Clinical Practice, EarlyView.ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley +1 more source
Polymorphisms of ITGA9 Gene and Their Correlation with Milk Quality Traits in Yak (Bos grunniens)
FoodsA single-nucleotide polymorphism (SNP) is a genome-level trait that arises from a variation in a single nucleotide, leading to diversity in DNA sequences. SNP screening is commonly used to provide candidate genes for yak breeding efforts.
Mengfan Zhang +9 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle +31 more
wiley +1 more source
Effect of COMT and UGT1A Variants on Clinical Response to Opicapone in Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is the second most common neurodegenerative disease. Symptomatic treatment is based on dopaminergic replacement. With disease progression, the initial benefit of levodopa becomes inconsistent, and motor complications emerge.
Elena Ojeda‐Lepe +15 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo +10 more
wiley +1 more source
Genetics and Molecular Biology, 2010 Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of ...
Wellington dos Santos Silva +2 more
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