Results 221 to 230 of about 5,339,479 (329)

Estimation of Linkage Disequilibrium, Effective Population Size, and Genetic Parameters of Phenotypic Traits in Dabieshan Cattle. [PDF]

Genes (Basel), 2022
Jin H, Zhao S, Jia Y, Xu L.
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Estimating effective population size trajectories from time-series identity-by-descent segments. [PDF]

Genetics
Huang Y, Carmi S, Ringbauer H.
europepmc   +1 more source

Inferring Long-Term Effective Population Size with Mutation-Selection Models. [PDF]

Mol Biol Evol, 2021
Latrille T, Lanore V, Lartillot N.
europepmc   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Genomic insights into runs of homozygosity, effective population size and selection signatures in Iranian meat and dairy sheep breeds. [PDF]

PLoS One
Yousefi Z, Moradi MH, Beige-Nasiri MT, Shirali M, Abdollahi-Arpanahi R.   +4 more
europepmc   +1 more source

Comparison of genetic variation between rare and common congeners of Dipodomys with estimates of contemporary and historical effective population size. [PDF]

PLoS One, 2022
Halsey MK, Stuhler JD, Bayona-Vásquez NJ, Platt RN, Goetze JR, Martin RE, Matocha KG, Bradley RD, Stevens RD, Ray DA.   +9 more
europepmc   +1 more source

Improved confidence intervals for the linkage disequilibrium method for estimating effective population size

Heredity, 2016
Andrew T. Jones, J. Ovenden, You-Gan Wang   +2 more
semanticscholar   +1 more source

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund, Johan Reutfors, Thomas Frisell, Fredrik Piehl   +3 more
wiley   +1 more source

Effective Population Size Estimation in Large Marine Populations: Considering Current Challenges and Opportunities When Simulating Large Data Sets With High-Density Genomic Information. [PDF]

Evol Appl
Delord C, Arnaud-Haond S, Leone A, Noskova E, Tournebize R, Jacques P, Marsac F, Nikolic N.   +7 more
europepmc   +1 more source