Results 121 to 130 of about 595,057 (344)
The Relationship Between FST and the Frequency of the Most Frequent Allele [PDF]
Mattias Jakobsson +2 more
openalex +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Associations between the K232A polymorphism in the diacylglycerol-O-transferase 1 (DGAT1) gene and performance in Irish Holstein-Friesian dairy cattle [PDF]
peer-reviewedSelection based on genetic polymorphisms requires accurate quantification of the effect or association of the polymorphisms with all traits of economic importance. The objective of this study was to estimate, using progeny performance data
Berry, Donagh +5 more
core
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang +6 more
wiley +1 more source
Effective Sample Size: Quick Estimation of the Effect of Related Samples in Genetic Case-Control Association Analyses [PDF]
Correlated samples have been frequently avoided in case-control genetic association studies in part because the methods for handling them are either not easily implemented or not widely known.
Chukwuma Ogunwole +5 more
core +1 more source
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette +13 more
wiley +1 more source
Y Chromosome STR Haplotypes and Allele Frequencies in a Southern Indian Male Population [PDF]
William E. Frank +2 more
openalex +1 more source
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink +3 more
wiley +1 more source
The aim of this study is to examine the phenotypic variation in quality characteristics of milk from buffalo breed Bulgarian Murrah with different genotypes of CSN3.
ВЛАДИМИР КАРАБАШЕВ +7 more
doaj
Allele frequency dynamics in a pedigreed natural population [PDF]
Nancy Chen +7 more
openalex +1 more source

