Results 101 to 110 of about 58,203 (304)
Genome-wide homozygosity analysis in LGMD2.
, 2017 Genotypes obtained with the Affymetrix 250K SNPs chip were analyzed with the HomozygosityMapper software for the identification of large regions of homozygosity.
Antonio Miranda-Duarte (573571) +3 more
core +1 more source
Frontiers in Genetics, 2019 Recent studies of the genetic foundations of cognitive ability rely on large samples (in extreme, hundreds of thousands) of individuals from relatively outbred populations of mostly European ancestry.
Sergey A. Kornilov +9 more
doaj +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant
CardiogeneticsAnderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency.
Gabriela Dostalova +7 more
doaj +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
Investigation of homozygosity and the number of sex alleles and its effect on productivity of colonies in 18th generation of Iranian honeybee (Apis mellifera meda) breeding plan [PDF]
نامه انجمن حشرهشناسی ایرانThe genetic mechanism of sex determination in honeybees has created limitations in breeding systems. In selective breeding populations, the possibility of increasing the homozygosity of sex alleles and producing diploid drones is higher.
Heidar Zahedi +2 more
doaj +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Leveling the Playing Field in Homozygosity Mapping Using Map Distances
, 2015 Studies of linkage disequilibrium (LD) and its variation in the genome are of central importance for understanding evolutionary history, population structure, and selective sweeps. Extreme forms of the latter may result in runs of homozygosity (ROH).
Horpaopan, Sukanya +6 more
core
Homozygosity disequilibrium associated with treatment response and its methylation regulation
BMC Proceedings, 2018 Homozygosity disequilibrium (HD), indicating a nonrandom pattern of sizable runs of homozygosity that deviates from a random allocation of homozygous and heterozygous genotypes in the genome, is an important phenomenon in population genomics and medical ...
Hsin-Chou Yang, Chia-Wei Chen
doaj +1 more source
Genomics, 1996 Werner syndrome (WS) is an autosomal recessive disorder characterized by the premature occurrence of many age-related features. Previously, the WS gene (WRN) was mapped between D8S131 and D8S87, in an 8.3-cM interval. In this study, regions of homozygosity in 36 WS patients from inbred families were searched for by genotyping for 35 dinucleotide repeat
J, Nakura +15 more
openaire +2 more sources