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Articles Related to Mutation

A Novel Hemizygous Mutation of HCFC1 Causes X-Linked Recessive Gene Inherited Developmental Delay in a Chinese Family

Developmental delay (DD) / intellectual disability (ID) is considered one of the most genetically heterogeneous human diseases. Herein, we described a Chinese boy affected by DD/ID with 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and 3-hydroxy3-methylglutaric aciduria (3-HMG), which associated with a novel missense hemizygous mutation, c.4442C>T, within the acidic domain of HCFC1 gene identified by whole exon sequencing (WES) and validated by Sanger sequencing.
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Prevalence and Genetic Profile of β-Thalassemia Associated Mutations in a Mauritanian Population

Although common in the Mediterranean populations, β-thalassemia are present in various other parts of the world including south Asia and Africa. This study was aimed to re-evaluate the prevalence of β thalassemia, the specific underlying β globin gene mutations and their associated haplotypes in the Mauritanian population.
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Canavan Disease (Aspartoacylase Deficiency): Report of the First Case in Basque Country and a Novel Mutation in Europe

Canavan disease, a genetic and metabolic neurodegenerative disorder, occurs at early ages, causing visual, neurological alterations, and fatal consequences. There is no curative treatment, although lithium citrate is being investigated. This is the first case reported in the Basque region of Spain and it introduces a novel mutation to Europe.
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Case Report of Novel LAMB2 Gene Mutation in Palestinian Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome

Laminin β2 (LAMB2) gene mutation typically causes a rare autosomal recessive inherited disorder called Pierson syndrome (PS) that present in the neonatal period and progressively affecting renal and ocular functions in the form of congenital nephrotic syndrome (CNS) combined with bilateral microcoria.
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An Insight into the Role of Spliceosomal Mutations in Myelodysplastic Syndromes

The identification of altered splicing signatures in Myelodysplastic Syndromes (MDS) could likely provide key markers for diagnosis, prognostication and development of novel therapeutics. This review presents an insight into role of spliceosomal gene mutations in the pathogenesis of MDS, emphasizing on their clinical and prognostic significance. We also discuss emerging studies delineating the functional consequences of these mutations and pointing towards the emergence of a new leukemogenic pathway involving spliceosomal dysfunction.
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Inherited Thrombophilia Could be a Possible Rare Etiology to Result in Cirrhosis: A Case Report and Literature Review

We reported on a cirrhosis patient who was demonstrated on gene sequencing to have inherited thrombophilia. A 33-year-old male patient with 8-year recurrent abdominal distention, symptom aggravated with 4-month pitting edema of lower extremities bilaterally, was identified decompensated cirrhosis in local hospital.
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Mechanisms of Resistance to Kinase Inhibitors and Strategies to Prevent the Development of Drug Resistance

Targeting mutant proteins and associated signaling pathways of driver oncogenes by small molecule kinase inhibitors (KIs) are a promising strategy of cancer therapy. However, despite the initial success of treatment, KIs often become ineffective as intrinsic and acquired resistance. This article reviews the English-language literature to explore the underlying mechanisms of drug resistance and to present a challenge for developing drugs to overcome resistance. Mechanisms of acquired resistance include 1) the selection of pre-existing subclones with other mutations, 2) the emergence of secondary mutations in the target kinase domain, 3) upregulation of kinases both within the same kinase family and their related kinase families, as well as activation of alternative bypass pathways, 4) epithelial-mesenchymal transition, 5) overexpression of pro-survival Bcl-2 family proteins and 6) drug efflux mechanisms. Currently available methods are to obtain tumor biopsy samples at recurrence or progression if the tumor lesion is accessible to a biopsy and to use the second- and third-generation KIs based on the individual need of each patient. Furthermore, recent computational challenges provide design principles to prevent the development of drug resistance. In conclusion, we provide an overview of the postulated resistance mechanisms and highlight the future direction of computational structure-based design of new potent KIs.
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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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Editorial Board Members Related to Mutation

Nejat Dalay

Professor
Istanbul University Oncology Institute
Turkey

Aladin M Boriek

Professor
Department of Medicine
Baylor College of Medicine
United States

PATRICIA A. KRUK

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

Subash Sad

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

Yan Guo

Assistant Professor
Center for Quantitative Sciences
Vanderbilt University
United States

Valery Soyfer

Professor
Department of Molecular & Microbiology
George Mason University
United States

Guey-Jen Lee-Chen

Professor
Department of Life Science
National Taiwan Normal University
Taiwan

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

Mohamed A Sabry

Associate Professor
Biochemistry Department
Arabian Gulf University
Bahrain
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