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Articles Related to Mutation

HIV-1 Molecular Characterization and Transmitted Drug Resistance Prevalence among Treatment-Naïve Individuals

The distribution of different human immunodeficiency virus type 1 (HIV-1) genotypes and the prevalence of transmitted drug resistance (TDR) mutations vary greatly across different Brazilian regions. This study aimed to describe the HIV-1 molecular diversity and TDR prevalence among treatment-naïve HIV-1 infected individuals in an urban area of Northeastern Brazil. DNA samples from 97 infected individuals were obtained and pol sequences were generated by Polimerase Chain Reaction (PCR) and direct sequencing. Bioinformatics tools were used to identify the presence of associated mutations with drug resistance, to reconstruct the phylogeny and to detect recombination.
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Pulmonary Adenocarcinoma Transforming into Small Cell Carcinoma: An Extreme Rarity

Primary small cell lung cancer (SCLC) showing epidermal growth factor receptor (EGFR) mutation is extremely rare. Transformation into SCLC has been reported as an evolution of lung adenocarcinoma acquiring resistance to EGFR tyrosine kinase inhibitors (TKI) and is considered to be a rare resistance mechanism of EGFR-TKI therapy.
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Responses and Survival under Pegylated Interferon α2a Treatment for Patients with Post-MPN Acute Myeloid Leukemia and Acute Panmyelosis with Myelofibrosis

We report here for the first time the efficacy of pegylated interferon α2a (Peg-Ifn) as a therapy for patients with myelofibrosis and high blast counts. We treated four patients who were in an accelerated phase of myeloproliferative neoplasms or acute panmyelosis with myelofibrosis using only this drug.
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Congenital Dyserythropoietic Anemia Type III and Primary Hemochromatosis; Coexistence of Mutations in KIF23 and HFE

Congenital dyserythropoietic anemia type III (CDA III) can be caused by mutation in KIF23. CDA III differs from CDA I and II in the sense that secondary hemochromatosis has not been reported. However, we have observed elevated serum ferritin in a CDA III family.
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Non-Syndromic X Linked Intellectual Disability in Two Brothers with A Novel NLGN4X Gene Splicing Mutation (NC_018934.2: g. 1202C>A)

X-linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown. So far, more than one hundred genes of the X chromosome have been found to be altered in males manifesting intellectual disability (ID). NLGN4X is an XLID gene, which has been found, involved in autism and Asperger syndrome involving causative coding mutations.
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Stability Analysis of Human Islet Amyloid Polypeptide and Its Mutated Oligomeric Forms

Human islet amyloid polypeptide (hIAPP), a 37 residue peptide hormone is an ingenious factor in pancreatic amyloid deposits found in cases with type-2 diabetes. Its aggregation into small toxic oligomeric species is presumed to be the reason for cells debilitation and demise in case of diabetic patients.
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Prospective Evaluation of WHO and European Clinical, Molecular and Pathological (WHO-ECMP) Criteria for Myeloproliferative Neoplasms (MPN) of Various Molecular Etiology: Characteristics of JAK2V617F, MPL515 and CALR Mutated MPN

The WHO defined JAK2V617F mutated myeloproliferative neoplasms (MPN) consist of normocellular essential thrombocythemia (ET), ET with features of early PV (prodromal PV), ET with hypercelular megakaryocytic granulocytic myeloproliferation (ET.MGM), and various stages of polycythemia vera (PV) when the WHO and European Clinical and Pathological (WHO-ECMP) criteria are applied.
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Immunodeficiency and Microbial Infections

Immunodeficiency refers to failure of immune system to encounter infections by different microbial pathogens such as fungi, bacteria, viruses and protozoan. This is called acquired or secondary immunodeficiency syndrome (SIS).
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Langerhans Cell Histiocytosis in a Patient with Lynch Syndrome (Hereditary Non Polyposis Colorectal Cancer)

A fifty three year old white female smoker with Lynch Syndrome was receiving adjuvant chemotherapy for node positive caecal adenocarcinoma. Interval investigations demonstrated a second primary gastric cancer with bilateral pulmonary nodules of indeterminate significance. Lung biopsy revealed Langerhans cell histiocytosis (LCH).
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Study on Mitochondrial DNA Heteroplasmy from Liver, Kidney and Muscle of Common Carp

Mitochondrial DNA (mtDNA) heteroplasmy has been found to be commonly present in many organisms. However, the studies on the mitochondrial heteroplasmy within group of fishes are currently lacking. This specific purpose of this study was to investigate the mtDNA heteroplasmy in different organs within group of common carp.
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Mthfr c677t, Homocysteine and Risk of Splanchnic Vein Thrombosis: A Pooled Analysis of Published Epidemiological Studies

This meta-analysis aimed to comprehensively assess the literature examining a possible link between the methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation and homocysteine and the risk of splanchnic vein thrombosis (SVT).
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Functional Protein Domains Evolve Very Specifically Over Mutations

Mutation in a single nucleotide of a gene has the potential to change the structure and/or function of its protein. Albeit simply saying, it is not observed to be a general phenomenon. The effect of mutation is primarily determined by the stereochemical nature of the amino acid which has replaced the previous amino acid, resulting in the residue location being affected. Here we show that despite a change in the frequency of occurrence of a particular amino acid in a particular protein in different types of organisms, the overall function of the protein can still remain unaffected, even when the resultant protein conformation is relatively altered.
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Molecular Mechanisms of Mismatch Repair Genes in Cancer – A Brief Review

The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.
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Perspectives and Potential Applications of Ruthenium-Based Nanocarriers for Cancer Therapy

Cancer is a highly heterogeneous disease characterised by continuous uncontrolled growth and expansion of abnormal cells. In general, in tumor cells the signalling pathways regulating cellular processes, as cell growth and division and cell to cellcommunication result strongly altered.
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Editorial Board Members Related to Mutation

Guey-Jen Lee-Chen

Professor
Department of Life Science
National Taiwan Normal University
Taiwan

Nejat Dalay

Professor
Istanbul University Oncology Institute
Turkey

Subash Sad

Professor
Department of Biochemistry, Microbiology and Immunology
University of Ottawa
Canada

Aladin M Boriek

Professor
Department of Medicine
Baylor College of Medicine
United States

Bidyut Roy

Professor
Human Genetics Unit
Indian Statistical Institute
India

Bassam R. Ali

Professor
Department of Pathology
College of Medicine and Health Sciences
UAE University
United Arab Emirates

Mohamed A Sabry

Associate Professor
Biochemistry Department
Arabian Gulf University
Bahrain

PATRICIA A. KRUK

Professor
Department of Obstetrics and Gynecology
USF Morsani College of Medicine
University of South Florida
United States

Yan Guo

Assistant Professor
Center for Quantitative Sciences
Vanderbilt University
United States

SANTAMARIA RITA

Associate Professor
Department of Pharmacy
University of Naples Federico II
Italy
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