Results 51 to 60 of about 58,203 (304)
Clinical Case Reports, 2017 Key Clinical Message Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1.
Abdul Ali Peer‐Zada +1 more
doaj +1 more source
G3: Genes, Genomes, Genetics, 2016 We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV).
Michaela Wiedmer +8 more
doaj +1 more source
Genetic insights into Alpine goats raised on Lombardy’s farms
Frontiers in Animal ScienceThis study investigates the genomic architecture of two Alpine dairy goat breeds, Camosciata delle Alpi (CAM) and Saanen (SAA), managed in ten herds located in Lombardy, northern Italy.
Carlotta Ferrari +5 more
doaj +1 more source
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
, 2019 Inbreeding depression is a growing concern in livestock because it can detrimentally affect animal fitness, health, and production levels. Genomic information can be used to more effectively capture variance in Mendelian sampling, thereby enabling more ...
Baes, Christine F. +6 more
core +1 more source
, 2020 Autoimmune diseases (AD) are responsible for a substantial amount of disability and morbidity worldwide. Research generally focuses on a single disease, although autoimmune phenotypes could represent pleiotropic outcomes of non-specific disease genes ...
Anaya, Juan-Manuel, Castiblanco, John
core +1 more source
Genetic mean components as selection criteria for identifying promising yellow melon hybrids for inbred line extraction [PDF]
Brazilian Journal of BiologyEstimates of the mean components m + a′ and d represent a promising strategy for guiding the selection of populations and lines in plant breeding programs.
K. T. C. Ferreira +9 more
doaj +2 more sources
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Ile/Ile homozygosity at codon 655 of HER2 in schwannoma
, 2013 Purpose: This study aimed to determine the genetic role of HER2, one of the epidermal growth factor receptor (EGFR) family, in schwannoma. The latter is a neogrowth of myelin-producing Schwann cells in peripheral nerves, inducible by N-nitrosoethylurea ...
Vin-Chi Wang; Jhy-Wei Li; Jeng-Hung Suen; Chuang, Tzu-Chao; Ming-Ching Kao
core +1 more source
The footprint of recent and strong demographic decline in the genomes of Mangalitza pigs
Animal, 2019 The Mangalitza pig breed has suffered strong population reductions due to competition with more productive cosmopolitan breeds. In the current work, we aimed to investigate the effects of this sustained demographic recession on the genomic diversity of ...
V.A. Bâlteanu +6 more
doaj +1 more source