Results 111 to 120 of about 633,120 (300)
Functional and statistical genetic effects with multiple alleles [PDF]
, 2008 Mapping quantitative trait loci (QTL) is often based on a functional or statistical model of gene action involving two alleles per locus. Such model is adequate for mapping populations derived from a cross between two inbred lines as in many plants and ...
Yang, Rong-Cai +1 more
core +1 more source
Contrasting patterns of spatial genetic differentiation in two east asian five-needle pine species, Pinus koraiensis and P. armandii [PDF]
Annals of Forest Research, 2008 Two species of East Asian five-needle pines of the section Strobus, Korean pine, Pinus koraiensis Sieb. et Zucc. and Armand's pine, Pinus armandii Franch are traditionally placed in two different subsections, Cembrae and Strobi, respectively.However ...
Belokon M.-M. +2 more
doaj
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
, 2017 Table of alleles (length in bp) at each microsatellite locus (15 loci)
Ian Wang (3843316) +3 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Stegodyphus tentoriicola .alleles file
, 2017 Stegodyphus tentoriicola .alleles ...
Trine Bilde (190198) +11 more
core +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
PolyA alleles and activity differences.
, 2013 Activity differences: Mean total activity for number of PolyA(22) alleles (0: dogs with no PolyA(22) alleles; 1: dogs with one PolyA(22) allele; 2: dogs homozygous for PolyA(22)) (Malinois and other breeds combined ...
Janelle M. Belanger (501698) +4 more
core +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Differences in expression levels between alleles with and without TEs.
, 2015 1. Median for the differences in expression rank between alleles with and without TEs. Rank differences were calculated as the mean expression rank of “with TE” alleles minus that of “without TE” alleles.
Yuh Chwen G. Lee (156484)
core +1 more source