Results 151 to 160 of about 1,522,500 (352)
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos+17 more
wiley +1 more source
Novel Single Nucleotide Polymorphism (9678G→A) for Linkage Analysis of Acute Intermittent Porphyria [PDF]
Wai-Keung Law+2 more
openalex +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Mapping complex traits with single nucleotide polymorphisms [PDF]
Lue Ping Zhao+3 more
openalex +1 more source
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh+22 more
wiley +1 more source
Shuang Lv,1 Yiming Li,2 Bojian Sun,1 Yu Jing,1 Xing Wang,3 Zhanqing Gu,1 Bailiang Wang,4 Cheng Xiao3 1Department of Rheumatology, the First Hospital of Hebei Medical University, Shijiazhuang, Hebei, People’s Republic of China; 2Department of ...
Lv S+7 more
doaj
A two-phase approach for detecting recombination in nucleotide sequences
Genetic recombination can produce heterogeneous phylogenetic histories within a set of homologous genes. Delineating recombination events is important in the study of molecular evolution, as inference of such events provides a clearer picture of the ...
Beiko, Robert G.+2 more
core