Special Issue: Treatment of Genetic Disease
Abstract
1650 11531
Special Issue: Treatment of Genetic DiseaseAbstract
With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic and epigenetic regulation in diseases are a major cause of disability, death, and human tragedy. Here, I discuss current knowledge about this matter including the diagnosis, counseling, treatment and management as well as some current therapeutic interventions such as gene, stem cell, epigenetic therapies and future directions in the field. 1650 11531 |
Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Familiesby
Abstract
The study “Molecular Neuropathology 2.0” (MNP2.0) offers an integrated histo-molecular diagnosis including the detection of potential therapeutic targets for a large cohort of pediatric patients with primary CNS tumors. After obtaining parental and/or patient consent, in this study germline DNA analysis of all study subjects bridges the gap between scientific genetic analysis and medical care. The study’s workflow takes into consideration the conditions of a multicenter study, legal stipulations, as well as the nee [...] 1895 10119 |
Carrier Screening for Cystic Fibrosis: Past, Present and Futureby
Abstract
Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected childre [...] 1897 11383 |
Preimplantation Genetic Screeningby
Abstract
The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this issue.Today it bears no doubt that blastocysts found to be uniformly aneuploid in a biopsy will fail to implant, or worse, will implant and lead to a pregnancy and birth carrying a major chromosomal abnormality, such as [...] 1476 8719 |
The Role of Epigenetics in Developmental Programming and the Developmental Origins of Health and DiseaseAbstract
A number of epidemiological studies have suggested that environmental stresses, such as malnutrition during the fetal period, can induce development of metabolic disorders, such as obesity, type 2 diabetes, and hypertension, and and even psychiatric disorders in later life. This theory model is known as the Developmental Origins of Health and Disease (DOHaD) theory, in which postulates that “epigenetic memories”, involving DNA methylation, histone modifications and microRNA expression, are induced by environmental [...] 2069 18039 |
Prenatal Screening for Fetal Aneuploidyby
Abstract
Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasound nuchal translucency (NT) measurement. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploidy scree [...] 1628 10791 |
Avoiding the Technological Imperative: Criteria for Genetic Screening Programsby
Abstract
Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...] 1750 10060 |
Carrier Screening for the Haemoglobinopathies: Past, Present and Futureby
Abstract
Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...] 1989 17279 |
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An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.Abstract
Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology 1342 7752 |
Mechanisms of Origin and Clinical Effects of Multiple Small Supernumerary Marker Chromosomes, Each Derived from a Different ChromosomeAbstract
Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...] 1574 10582 |
Paranitrophenol and Organic Azo Dye Degradation: Catalytic Power of Terminalia Leaf Silver NanoparticlesAbstract
Terminalia species is a widely available plant that can be used to synthesise silver nanoparticles (AgNPs) and harness their catalytic capacity. This experimental design will explore the potential of Terminalia AgNPs in contributing to the degradation process of toxic chemicals generated by industries such as textiles, food, and pharmaceuticals. This research uses four leaf varieties of Terminalia species—T. arjuna, T. bellirica, T. chebula, and T. catappa—to synthesize AgNPs, evaluate their optimal synthesis condi [...] 89 580 |
Fabrication of CuO-Decorated Fe2O3 Nanoparticles as Efficient and Durable Electrocatalyst for Oxygen Evolution Reactionby
Abstract
The electrochemical water oxidation application of CuO@Fe2O3 materials as potential catalysts is being reported for the first time. A series of CuO@Fe2O3 with different molar ratios of CuO (5, 7, 10, 12, and 15%) was fabricated through precipitation followed by the impregnation method. Structural and electrochemical studies were carried out by using different analytical platforms, including X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR), scanning electron microscopy (SEM), Energy dispersive [...] 246 1235 |
Lignocellulosic Biomass and Enzymes: Fundamentals, Emerging Technologies, and ApplicationsAbstract
Lignocelluloses are complex plant polysaccharides made of lignin, cellulose, and hemicellulose, and products made from these components find immense market potential. They can be effectively valorized to products related to bioenergy, bioplastics, food and nutrition, medication delivery systems, and other elements. Significant sources of lignocellulosic biomass include sugarcane bagasse, corn cob, rice straw, potato haulms, cocoa pods, etc. Enzyme-based valorization processes find immense potential, as they are eco [...] 814 6308 |
Soil Treatment from Hazardous Particles Using Designed Nanosensors: A Physical and Chemical AnalysisAbstract
Being critical to achieving Sustainable Development Goals (SDGs) of the United Nations, strengthening understanding of the properties and processes of soil at national and regional scales is imperative. The target of this research is removing transition metals of Cr, Mn, Fe, Zn, W, Cd from soil due to nanomaterial-based boron nitride nanocage (B5N10-nc). The electromagnetic and thermodynamic attributes of toxic transition metals trapped in B5N10-nc were depicted by materials modeling. It has been studied the behavi [...] 703 3824 |
Catalytic Performance of CO:Ni Mixed Oxide Based Catalyst for Green Fuel Synthesis from Biomass Derived Citrullus Colocynthis OilAbstract
This study aimed to synthesize nickel oxide (NiO) and cobalt oxide (Co3O4) based catalysts for synthesizing biodiesel from Citrullus colocynthis oil. Cobalt-nickel mixed oxide catalysts made by co-precipitation technique with different Cobalt to Nickel ratios and named Co:Ni (50:50), Co:Ni (67:33), and Co:Ni (33:67). The Characterization of these synthesized catalysts was performed by XRD and SEM analysis. The transesterification process checked the catalytic activity of these catalysts, and it was found that Co:Ni [...] 1542 7638 |
Acknowledgment to Reviewers of Catalysis Research in 2024Abstract
The editors of Catalysis Research would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2024. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web [...] 496 3061 |
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