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Articles Related to mutations

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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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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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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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 mutations

SONAL GUPTA

Assistant Professor
Department of Pathology
University of Texas MD Anderson Cancer Center
United States

Boris A. Reva

Associate Professor
Department of Genetics and Genomics Sciences
Icahn School of Medicine at Mount Sinai
United States

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

Bassam R. Ali

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

SANTAMARIA RITA

Associate Professor
Department of Pharmacy
University of Naples Federico II
Italy
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