Results 31 to 40 of about 177,132 (246)
Brazilian Journal of Infectious DiseasesOBJECTIVE: The study aimed to investigate gyrA and gyrB mutations in Mycobacterium tuberculosis (MTB) clinical strains from 93 patients with pulmonary tuberculosis in Hubei Province, China, and analyze the association between mutation patterns of the ...
Jun Chen +8 more
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The high cancer incidence in young people in Italy: do genetic signatures reveal their environmental causes? [PDF]
Journal of Health and Social Sciences, 2016 The increased incidence of cancer in children and adolescents registered in Italy in the last few decades is one of the highest amongst Western countries. The causes are difficult to identify, but recent daily news and some epidemiological surveys, such
Ruggero Ridolfi
doaj +1 more source
Systematic pan-cancer analysis of the potential tumor diagnosis and prognosis biomarker P4HA3
Frontiers in Genetics, 2023 Purpose: Prolyl 4-hydroxylase subunit alpha 3 (P4HA3) is implicated in several cancers’ development. However, P4HA3 has not been reported in other cancers, and the exact mechanism of action is currently unknown.Materials and methods: First, the ...
Yinteng Wu +7 more
doaj +1 more source
Tandem repeat DNA: applications in mutation analysis
Environmental Mutagen Research, 2005 Non-coding tandem repeat DNA sequences have high rates of mutation that facilitate the measurement of induced mutation in small sample sizes. It has been suggested that these loci may be useful biomarkers for heritable genetic mutation induced by exposure to genotoxic agents.
Carole Yauk, Aris Polyzos
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk +9 more
wiley +1 more source
Brazilian Journal of Otorhinolaryngology, 2010 Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos.
Melissa de Freitas Cordeiro-Silva +4 more
doaj +1 more source
A System for the Analysis of Yeast Ribosomal DNA Mutations [PDF]
Molecular and Cellular Biology, 1989 To develop a system for the analysis of eucaryotic ribosomal DNA (rDNA) mutations, we cloned a complete, transcriptionally active rDNA unit from the yeast Saccharomyces cerevisiae on a centromere-containing yeast plasmid. To distinguish the plasmid-derived ribosomal transcripts from those encoded by the rDNA locus, we inserted a tag of 18 base pairs ...
W, Musters +5 more
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Diabetes-associated breast cancer is molecularly distinct and shows a DNA damage repair deficiency
JCI Insight, 2023 Diabetes commonly affects patients with cancer. We investigated the influence of diabetes on breast cancer biology using a 3-pronged approach that included analysis of orthotopic human tumor xenografts, patient tumors, and breast cancer cells exposed to ...
Gatikrushna Panigrahi +18 more
doaj +1 more source
A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene [PDF]
Iranian Journal of Neonatology, 2017 Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex.
Alieh Mirzaee +7 more
doaj +1 more source
Hematology, 2023 The study aims to analyze genetic mutation and clinical characteristics and study their correlation with survival prognosis of patients with myelodysplastic syndromes (MDS). Moreover, the differential DNA methylation profiles between TET2 mutated (Mut)/ASXL1 wild-type (WT) and TET2-Mut/ASXL1-Mut MDS samples were investigated to explore the mechanism of
Yue Feng +5 more
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