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44 articles for “mutations”
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Literature ReviewOpen accessEvery word in the titlePotential Therapies for Mitochondrial Diseases Caused by mtDNA MutationsAnastasia V. Poznyak, Nikolay A. Orekhov, Dmitry Felixovich Beloyartsev et al.Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), present significant genetic and clinical complexities that challenge accurate diagnosis and treatment. This review examines the critical molecular mechanisms underlying these disorders, particularly the role of heteroplasmy, where mixtures of mutated and normal mtDNA influence disease severity, and the nuclear-mitochondrial DNA interactions that compound diagnostic and therapeutic challenges. The threshold effect, … …American Journal of Biochemistry and Biotechnology, Vol. 21, Issue 4 · 15 Feb 2026 · 1,750 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleGenetic Testing for Inherited Thrombophilia in Women with Recurrent Pregnancy Loss: Prevalence and Risk Assessment of Factor V Leiden, Prothrombin, and MTHFR MutationsLina M. Al Momani, Manal A. AbbasGenetic testing for inherited thrombophilia in women with recurrent pregnancy loss (RPL) may play an important role in detecting high-risk subjects. DNA was extracted from peripheral blood leukocytes. The high pure polymerase chain reaction template preparation kit and Reverse hybridization technique were used to detect the presence of factor V (G1691A, Leiden) (FVL), Factor II (prothrombin, G20210A), and 5,10-methylenetetrahydrofolate reductase … …OnLine Journal of Biological Sciences, Vol. 25, Issue 4 · 29 Nov 2025 · 2,562 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleMycobacterium tuberculosis Complex Mutations in Drug Resistant Clinical Isolates from Southwest MexicoMartínez-Cruz Perla Mónica, Nakamura-López Yuko, Quintero-Hernández Verónica et al.Mutations in target genes have been described in Mycobacterium tuberculosis Complex (MTBc) drug resistant isolates worldwide. In Mexico, not enough information has been reported in this concern. The aim of this study was to characterize mutations related to resistance to first line drugs in MTBc isolates from Oaxaca, Mexico. MTBc isolates were identified in clinical samples from Tuberculosis (TB) patients. … …American Journal of Infectious Diseases, Vol. 17, Issue 4 · 28 Oct 2021 · 6,669 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleIdentification of Novel Mutations of AMH Gene in Iraqi Women with Premature Ovarian FailureFarah Amer Abed, Raya E. Maroof, Ulfat Mohammed Ali Al-NakkashAn over all of thirty females experiencing idiopathic POF and thirty controls have been studied and among them only six patients and four control were sent to sequence. The AMH gene fragments AMH1, AMH2 and AMH5 generates 530 bp, 288 bp and 1080 bp respectively were amplified. Fragments were sequenced and the results show six out of eight observed SNPs … …OnLine Journal of Biological Sciences, Vol. 18, Issue 4 · 11 Dec 2018 · 7,254 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleTumor Suppressor P53 Gene Mutations Pattern Induced by Repeated Fried Palm Oil in RatsAbeer A.I. Hassanin, Abeer G.A. Hassan, Saadia A. Ali, Takao ItakuraThe present study aimed to examine the presence of p53 gene mutations in white albino rats fed on repeated fried palm oil. Eighteen sexually mature male Albino rats were used throughout the experiment. Rats were divided randomly into three groups, 6 animals each, namely; control group (CO) which orally administered by distilled water (NO) group which fed on basal diet … …American Journal of Animal and Veterinary Sciences, Vol. 9, Issue 4 · 19 Dec 2014 · 7,699 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleThrombophilic Genes Mutations in Women with Repeated In-Vitro Fertilization FailureNaglaa Fathy Al Husseini, Ahmad Y. Rezk, Mosad M. Odah et al.Problem statement: Thrombophilia has been recently implicated in early pregnancy loss and IVF implantation failure, by impairing the initial vascularization process occurring at implantation, which is necessary for a successful pregnancy. Approach: The aim of this study is to assess the presence possibility of mutation in thrombophilic genes [Factor V (FV) gene, Prothrombin (PT) gene and Methylenetetrahydrofolate Reductase (MTHFR) gene] … …Current Research in Medicine, Vol. 2, Issue 1 · 29 Mar 2011 · 7,667 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleMutations in Tumor suppressor TP53 Gene in Formalin- Fixed, Paraffin Embedded Tissues of Squamous Cell Carcinoma (SCC) of Lung CancerAbbas Mohammadi, Ali Vaziri Gohar, Mohamad Reza ShakibaieThe TP53 gene mutations have been extensively studied in lung cancer and have been used as a means to understand the origin(s) and mechanisms of these mutations in lung cancer development. TP53 gene mutations occur frequently in many human cancers. Analysis of TP53 gene mutations can also provide clues to the etiology of tumor formation. Formalin-fixed, paraffin embedded (FFPE) tissues … …American Journal of Biochemistry and Biotechnology, Vol. 4, Issue 1 · 31 Mar 2008 · 8,006 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleSearching of Main Cause Leading to Severe Influenza A Virus Mutations and Consequently to Influenza Pandemics/EpidemicsGuang Wu, Shaomin YanThe unpredictable mutations in the proteins from influenza A virus lead to the great difficulty in prevention of possible outbreak of bird flu and pandemic/epidemic of influenza. This unpredictability is due to the fact that we know little about the causes that lead to the mutations. In three of our recent studies on the hemagglutinins from influenza A virus, we … …American Journal of Infectious Diseases, Vol. 1, Issue 2 · 30 Jun 2005 · 9,975 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,013 accessesView PDFCite
Research ArticleOpen accessIn the keywordsBiochemical and Genetic Responses of Fungi to the Toxic Effect of Synthetic and Natural FungicidesMarÍa-Elena Báez-Flores, Rosalba Troncoso-Rojas, Martin-Ernesto Tiznado-HernándezThe objective of the present review is to analyze the molecular basis of fungicide resistance mechanism to both synthetic fungicides and the natural fungicides isothiocyanates. The review is focused mainly on Alternaria sp., but whenever available, similar studies in other fungi have been included. Fungal resistant strains to dicarboximide and phenylpyrrole fungicides have been found to contain mutations in one … …American Journal of Agricultural and Biological Sciences, Vol. 3, Issue 1 · 31 Mar 2008 · 8,122 accessesView PDFCite