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A Glimpse into the Satellite DNA Library in Characidae Fish (Teleostei, Characiformes)
(Frontiers Media Sa, 2017-08-14)
Satellite DNA (satDNA) is an abundant fraction of repetitive DNA in eukaryotic genomes and plays an important role in genome organization and evolution. In general, satDNA sequences follow a concerted evolutionary pattern ...
Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein
(2021-01-01)
Defects in mitochondrial DNA (mtDNA) maintenance may lead to disturbances in mitochondrial homeostasis and energy production in eukaryotic cells, causing diseases. During mtDNA replication, the mitochondrial single-stranded ...
A tandemly repetitive centromeric DNA sequence of the fish Hoplias malabaricus (Characiformes : Erythrinidae) is derived from 5S rDNA
(Springer, 2006-05-01)
A substantial fraction of the eukaryotic genome consists of repetitive DNA sequences that include satellites, minisatellites, microsatellites, and transposable elements. Although extensively studied for the past three ...
A tandemly repetitive centromeric DNA sequence of the fish Hoplias malabaricus (Characiformes : Erythrinidae) is derived from 5S rDNA
(Springer, 2006-05-01)
A substantial fraction of the eukaryotic genome consists of repetitive DNA sequences that include satellites, minisatellites, microsatellites, and transposable elements. Although extensively studied for the past three ...
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
(Pergamon-Elsevier Science Ltd, 2016-07)
Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing ...
Liquid biopsy as a diagnostic and prognostic tool for women and female dogs with breast cancer
(2021-10-01)
Introduction: Breast cancer (BC) is the malignant neoplasm with the highest mortality rate in women and female dogs are good models to study BC. Objective: We investigated the efficacy of liquid biopsy to detect gene ...
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
(2016)
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...
Landscape of mutations in DNA repair genes in young women with breast cancer
(Instituto Tecnológico y de Estudios Superiores de Monterrey, 2022-12-06)
There is a geographical difference in the distribution of breast cancer (BC) incidence for young women with BC (YWBC) under 40 years old (y.o.), with 15% in Latin America (LA) versus 7% in high-income countries. Most YWBC ...