Results 101 to 110 of about 451,573 (269)
Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez +15 more
wiley +1 more source
Modes of rapid polygenic adaptation [PDF]
Mol. Biol. Evol. 34 (12):3169-3175 (2017), 2018 Many experimental and field studies have shown that adaptation can occur very rapidly. Two qualitatively different modes of fast adaptation have been proposed: selective sweeps wherein large shifts in the allele frequencies occur at a few loci and evolution via small changes in the allele frequencies at many loci.
arxiv
Murine cytotoxic T lymphocyte recognition of individual influenza virus proteins. High frequency of nonresponder MHC class I alleles. [PDF]
, 1988 Jack R. Bennink, Jonathan W. Yewdell
openalex +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
Indonesian Biomedical JournalBACKGROUND: Preeclampsia is the primary cause of maternal and neonatal morbidity and mortality; however, currently there is no definitive method exists to prevent preeclampsia.
Deviana Soraya Riu +2 more
doaj +1 more source
Scientific African, 2023 A study was carried out to find out the various mutant traits present in the indigenous chicken population and their influence on egg production in the three ecological zones of Ghana.
P. Mensah +4 more
doaj
Non-identifiability of identity coefficients at biallelic loci [PDF]
arXiv, 2013 Shared genealogies introduce allele dependencies in diploid genotypes, as alleles within an individual or between different individuals will likely match when they originate from a recent common ancestor. At a locus shared by a pair of diploid individuals, there are nine combinatorially distinct modes of identity-by-descent (IBD), capturing all ...
arxiv
NULL ALLELE FREQUENCIES AT ALLOZYME LOCI IN NATURAL POPULATIONS OF DROSOPHILA MELANOGASTER [PDF]
, 1981 Charles H. Langley +5 more
openalex +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source