Results 121 to 130 of about 595,057 (344)

The Relationship Between FST and the Frequency of the Most Frequent Allele [PDF]

open access: bronze, 2012
Mattias Jakobsson   +2 more
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yes, 2010
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yes, 2007
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

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

open access: yesArthritis Care &Research, EarlyView.
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

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

open access: yesArthritis Care &Research, EarlyView.
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

ФЕНОТИПНО ВАРИРАНЕ НА КАЧЕСТВЕНИ ХАРАКТЕРИСТИКИ НА МЛЯКО НА БИВОЛИЦИ ОТ ПОРОДАТА БЪЛГАРСКА МУРРА С РАЗЛИЧНИ ГЕНОТИПОВЕ НА CSN3+

open access: yesЖивотновъдни науки, 2015
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]

open access: bronze, 2018
Nancy Chen   +7 more
openalex   +1 more source

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