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Open Access Review

The Role of Mitochondria in Oocyte and Early Embryo Health

Received: 01 January 2019;  Published: 29 March 2019;  doi: 10.21926/obm.genet.1901070

Abstract

The mitochondria of the oocyte are a prominent source of energy metabolism as well as mitochondrial DNA that will later populate the cells of the offspring. Recent discoveries provided new insight into the physiology of the mitochondria and its unique genetics. The concept of heteroplasmy defined as the presence of more than one type of mitochondrial genome, is gaining increasing recognition as an important contributor to several complex morbidities, age-related reproductive dysfunction and aging. Understanding the [...]

2342 26373

Open Access Opinion

Clonal Heterogeneity in Non-Small Cell Lung Cancer and the Possible Role in Predicting Response to Treatment with Immune Checkpoint Inhibitors

Received: 15 November 2018;  Published: 22 March 2019;  doi: 10.21926/obm.genet.1901069

Abstract

Immune oncology treatment with immune checkpoint inhibitors (ICIs) is revolutionizing therapeutic approach for advanced non-small cell lung cancer (NSCLC) patients, in terms of longer survival and improved quality of life. To date, the widely used and approved biomarker is programmed death ligand 1 (PD-L1) expression on tumour cells, but it is considered not accurate and it is more likely that many factors, related to both cancer and host, may better predict response to ICI. Among those factors, great attention is [...]

1704 8843

Open Access Review

FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease

Received: 08 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901068

Abstract

Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of children with neuropsychiatric diseases and congenital malformations. To understand mechanisms of non-cancerous diseases potentially mediated by chromosome instability, which may represent an important target for molecu [...]

1742 10448

Open Access Technical Note

Interphase Quantitative Fluorescence in Situ Hybridization (IQ-FISH)

Received: 02 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901067

Abstract

Fluorescence in situ hybridization (FISH) seems to be the most applicable and versatile molecular cytogenetic platform for visual interphase chromosome analysis offering a variety of opportunities for studying chromosomal structure and behaviour at the highest microscopic resolution and at all stages of the cell cycle. Quantitative assessment of FISH results has been repeatedly shown to increase the efficiency of FISH-based approaches. Here, we explore the potential of interphase quantitative FISH (IQ-FISH), which [...]

1781 10847

Open Access Research Article

New DNA Extraction Method for the Detection of Pneumocystis in Lung Tissue Samples of Colonized Individuals

Received: 30 January 2019;  Published: 18 March 2019;  doi: 10.21926/obm.genet.1901066

Abstract

Background: Pneumocystis jirovecii colonization in patients is associated with a low organism burden, which supports the need to use highly sensitive molecular techniques, such as nested-PCR to determine the presence of the organism. However, few studies have considered the effect of nucleic acid extraction methods on the detection of P. jirovecii. Here, we evaluate how pre-treatment affects microbial detection. Methods: Lung tissue samples from fifteen autopsied infants were processed using two different DNA extra [...]

1743 10422

Open Access Research Article

New Tools in Cognitive Neurobiology: Biotin-Digoxigenin Detection of Overlapping Active Neuronal Populations by Two-Color c-fos Compartment Analysis of Temporal Activity by Fluorescent in situ Hybridization (catFISH) and c-Fos Immunohistochemistry

Received: 12 October 2018;  Published: 04 March 2019;  doi: 10.21926/obm.genet.1901065

Abstract

Background: The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. This technique exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activated in the brain of the same animal in response to neural or behavioral events separated by 25–30 min. The differential labeling is based on the visualization of nuclear RNA and cytoplasmic [...]

2367 17273

Open Access Research Article

COMBO-FISH: A Versatile Tool Beyond Standard FISH to Study Chromatin Organization by Fluorescence Light Microscopy

Received: 14 September 2018;  Published: 19 February 2019;  doi: 10.21926/obm.genet.1901064

Abstract

Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemical and/or thermal denaturation to improve target accessibility and uses huge amounts of DNA that needs to be bonded to the target site. COMBinatorial Oligo-nucleotide FISH (COMBO-FISH) offers possibilities to circumvent these shortcomings. Methods: [...]

2100 14334

Open Access Opinion

Interphase FISH: A Helpful Assay in Prenatal Cytogenetics Diagnosis

Received: 01 October 2018;  Published: 28 January 2019;  doi: 10.21926/obm.genet.1901063

Abstract

Since its introduction around the end of the 1970s, interphase fluorescence in situ hybridization (FISH) supports both classical and recent techniques for determining fetal karyotypes during prenatal diagnosis, quickly providing relevant information for the management of pregnancy. Interphase FISH plays an important role in the study of pregnancies with malformations, in mosaicism conditions, in confirming or excluding aneuploidy detected by non-invasive prenatal testing, and in the diagnosis of contiguous gene syn [...]

2308 23205

Open Access Technical Note

Repli-FISH (Fluorescence in Situ Hybridization): Application of 3D-(Immuno)-FISH for the Study of DNA Replication Timing of Genetic Repeat Elements

Received: 22 July 2018;  Published: 25 January 2019;  doi: 10.21926/obm.genet.1901062

Abstract

Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. However, their investigation at a genome-wide scale is challenging due to their repetitive nature. Here, we describe a method to study the DNA replication kinetics of different repeat elements in single cells throughout the S-phase of the cell cycle. Methods: Mouse major satellite, minor satellite and telomere repeat elements as well as human LINE-1 and Alu repeats were [...]

2130 764735

Open Access Short Report

The Usefulness of Preimplantation Genetic Testing for Chromosome Aneuploidy Informed by A Randomised Controlled Trial

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

Abstract

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]

1641 9073

Open Access Review

Genotyping Pneumocystis jirovecii: Impacting Our Understanding of Interhuman Transmission

Received: 04 December 2018;  Published: 17 January 2019;  doi: 10.21926/obm.genet.1901060

Abstract

Pneumocystis jirovecii is an atypical fungus transmitted via the airborne route between humans. This fungus is exclusively associated with humans and almost each individual has encountered it at least once before reaching the age of two. P. jirovecii can be cleared and spontaneously resolutive in immunocompetent, whereas it can be responsible for severe Pneumocystis pneumonia (PCP) in immunocompromised patients. In the next decades, the putative increase of the population of immunocompromised patients is likely to [...]

1713 10494

Open Access Editorial

A Healthy and Happy 2019

Received: 15 January 2019;  Published: 15 January 2019;  doi: 10.21926/obm.genet.1901059

Abstract

A healthy and happy 2019

939 6437

Open Access Review

Redirecting Fetal Programming: Evidence of Interventions that May Be A Tool for Health

Received: 01 June 2018;  Published: 28 December 2018;  doi: 10.21926/obm.genet.1804058

Abstract

Understanding the pathophysiology of disease can be an essential step to determining where and how to intervene for preventive or corrective health. Intrauterine growth restriction (IUGR) has been defined in livestock species as impaired gestational development of a fetus or its parts [1]. This broad category of ailments described by low fetal weight is accompanied by susceptibility to adult onset of chronic disease through fetal programming of numerous organ systems and their functions. This concern affects humans [...]

1703 10472

Open Access Review

Pneumocystis as a Co-Factor in Pulmonary Diseases

Received: 02 November 2018;  Published: 27 December 2018;  doi: 10.21926/obm.genet.1804057

Abstract

Pneumocystis causes life-threatening pneumonia in immunocompromised populations. More recently it has been implicated as a co-factor in a number of chronic lung diseases including chronic obstructive pulmonary disease (COPD), severe asthma, and cystic fibrosis (CF). In this review, we will examine the current literature regarding Pneumocystis and lung diseases in the HIV-infected patients and non-HIV immunocompromised populations, and the barriers to prophylaxis and treatment in these patients. Trimethoprim sulfame [...]

1723 8686

Open Access Review

Therapies for Childhood Polycystic Kidney Disease

Received: 07 August 2018;  Published: 23 December 2018;  doi: 10.21926/obm.genet.1804056

Abstract

Renal cysts are present in a wide variety of hereditary renal diseases in children. The term polycystic kidney disease (PKD) refers to two specific hereditary diseases, distinguished by the usual age of onset and genetic cause: autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF, MIM *606702) and autosomal dominant polycystic disease (ADPKD-OMIM *601313 and OMIM *173910). ARPKD/CHF is characterized by cystic dilations of the renal collecting ducts and developmental defects of biliar [...]

1813 11914

Open Access Review

Genetic and Epigenetic Regulation of Telomere Length: Current Findings, Methodological Limitations and Possibilities for Future Studies

Received: 29 October 2018;  Published: 19 December 2018;  doi: 10.21926/obm.genet.1804055

Abstract

Telomeres are TTAGGG repeats located at the end of chromosomes that maintain DNA stability. Telomere length (TL) has been widely implicated as a marker of biological age, and is associated with several human diseases, including depression, cardiovascular disease and cancer. Twin studies and cohort studies estimate heritability of TL between 78-82%. Moreover, several genomic loci which influence TL have been identified. Despite the success of genetic studies in furthering our understanding of telomere biology, ident [...]

1910 15946

Open Access Review

Distinct Mechanisms of Alterations in DNA Methylation/Demethylation Leading to Myelodysplastic Syndromes/Acute Myeloid Leukemia and Chronic Lymphocytic Leukemia

Received: 05 June 2018;  Published: 14 December 2018;  doi: 10.21926/obm.genet.1804054

Abstract

Epigenetic dysregulation is present in both myeloid and lymphoid disorders, with important differences reported between myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), on one hand, and chronic lymphocytic leukemia (CLL), on the other. Qualitative differences are reported in MDS/AML with gene fusions (e.g. TET1/LCX) and somatic mutations in epigenetic regulators (e.g. DNMT3A, TET2, IDH1/2), while differences in CLL are predominantly quantitative (e.g. DNMT3A, TET2). Indeed, and as supported by studies [...]

2177 13076

Open Access Original Research

Evaluation of Classical Statistical Methods for Analyzing BS-Seq Data

Received: 23 May 2018;  Published: 10 December 2018;  doi: 10.21926/obm.genet.1804053

Abstract

DNA methylation is an epigenetic change that is not only important in normal cell development, but also plays a significant role in human health and disease. Therefore, studies of DNA methylation have been actively pursued to clarify the precise role of this modification in disease etiology and its potential as a biomarker of disease. One key issue in analyzing DNA methylation data is the detection of significant differences in methylation levels between diseased individuals and healthy controls. In recent years, m [...]

2038 9663

Open Access Review

Reminiscence from Half a Century of Anti-Pneumocystis Drug Discovery and Development

Received: 12 September 2018;  Published: 06 December 2018;  doi: 10.21926/obm.genet.1804052

Abstract

My experiences with the identification and development of the anti-Pneumocystis drugs trimethoprim-sulfamethoxazole, dapsone and atovaquone are recounted. Attention is drawn to certain often-overlooked aspects of these drugs, including their concomitant effects against infections other than Pneumocystis, matters of dosing and adverse effects. During the past four decades several million people worldwide received chemoprophylaxis and treatment with these drugs for Pneumocystis jirovecii pneumonia. The population of [...]

1678 13447

Open Access Research Article

Assessment of Cytogenetic Abnormalities by FISH in Lymphocytes from a Victim Accidentally Exposed to Cobalt-60

Received: 14 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.genet.1804051

Abstract

Background: A radiation accident occurred on 14 June 2011 in an industrial facility in Bulgaria with a cobalt source (137 TBq) that was used to sterilize equipment. Five people received doses exceeding 1Gy, which led to the development of acute radiation syndrome. Biological dosimetry based on dicentric analysis was performed and the average acute whole-body doses estimated for the five patients ranged from 1.2 to 5.6 Gy. The purpose of this study was to evaluate induced chromosome aberrations in vivo four months af [...]

1533 8436

Open Access Case Report

Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050

Abstract

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 1 in 20,000 newborns. Although it usually occurs de novo with a low recurrence risk, an increased recurrence risk is observed in some families. In this paper, we provide an overview of the underlying causes of increased recurrence risk in families with PMS and present a workflow aimed at identifying an increased recurrence risk. Methods: First, we report clinical [...]

2324 15267

Open Access Review

Pneumocystis jirovecii Pneumonia: Current Advances in Laboratory Diagnosis

Received: 21 August 2018;  Published: 13 November 2018;  doi: 10.21926/obm.genet.1804049

Abstract

Pneumocystis jirovecii pneumonia (PcP) remains a major cause of respiratory illness among immunocompromised patients. PcP is difficult to diagnose, in particular in non-HIV-infected patients, due to the lack of associated specific clinical data. Since P. jirovecii could not be cultivated for many years, microscopic visualization of cystic or trophic forms in respiratory specimens based on cytochemical or immunofluorescence staining are the standard procedure to identify this fungus. Polymerase chain reaction (PCR)- [...]

2011 21787

Open Access Review

Epigenetics and Infectious Disease: State-of-the-Art and Perspectives in New Generation Therapies

Received: 30 May 2018;  Published: 12 November 2018;  doi: 10.21926/obm.genet.1804048

Abstract

Infectious diseases are one of the most important causes of morbidity and mortality around the world and have a substantial impact on the health of communities. These diseases are caused by pathogenic microorganisms, such as bacteria, viruses, parasites and fungi. The antibiotics that are currently available are generally considered to be safe and well-tolerated. However antimicrobial resistance is an increasingly serious concern in the treatment of infectious diseases. An understanding of epigenetics now contribut [...]

1434 12169

Open Access Review

Epigenetic Regulation by Androgen Receptor in Prostate Cancer

Received: 26 May 2018;  Published: 02 November 2018;  doi: 10.21926/obm.genet.1804047

Abstract

Prostate cancer is the most common cancer among men in the world. Androgen receptor (AR), acting as a nuclear receptor, facilitates ligand-dependent transcriptional activation in the nucleus. Androgen deprivation therapy (ADT) is used for the treatment of advanced prostate cancer because androgen and AR signaling drive prostate tumor growth and anti-apoptotic function. Resistance to ADT in most tumors develops quickly; thus, AR continues to be active in relapsed tumors called castration-resistant prostate cancer (C [...]

1904 15025

Open Access Original Research

The Induction of Histone H3K4 Methylation on the SI Gene Correlates with SI mRNA Levels in Enterocyte-Like Caco-2 Cells

Received: 18 December 2017;  Published: 30 October 2018;  doi: 10.21926/obm.genet.1804046

Abstract

Background: Histone modifications, including acetylation and H3 lysine 4 (K4) methylation, are thought to be associated with transcriptional activation during differentiation. Methods: mRNA and histone modifications around the sucrase-isomaltase (SI) gene in Caco-2 cells (a small intestine cell line) during differentiation were determined by qRT-PCR and chromatin immunoprecipitation, respectively. Results: Mono-, di-, and tri-methylation of histone H3K4 on the SI gene correlated with the induction of SI gene expres [...]

1702 8248

Open Access Review

The Relationship between Pneumocystis Infection in Animal and Human Hosts, and Climatological and Environmental Air Pollution Factors: A Systematic Review

Received: 14 September 2018;  Published: 25 October 2018;  doi: 10.21926/obm.genet.1804045

Abstract

Background: Over the past decade, there has been rising interest in the interaction of Pneumocystis with the environment. This interest has arisen in part from the demonstration that environmental factors have important effects on the viability and transmission of microbes, including Pneumocystis. Environmental factors include climatological factors such as temperature, humidity, and precipitation, and air pollution factors including carbon monoxide, nitrogen dioxide, sulfur dioxide, and particulate matter. Methods [...]

2048 9214

Open Access Original Research

In Silico Detection and FISH Analysis to Determine Location of miRNAs in Solea senegalensis Chromosomes Using BACs

Received: 31 July 2018;  Published: 24 October 2018;  doi: 10.21926/obm.genet.1804044

Abstract

Background: MicroRNAs (miRNAs) are small, non-coding RNAs that play a very important role in gene expression by regulating mRNA cleavage and translation. The Senegalese sole, Solea senegalensis (Kaup 1858), is a flatfish species that shows great potential for marine aquaculture. Nevertheless, the existence of sexual dysfunction of males reared in captivity, high larval mortality, and diseases have hampered its production. The integration of sequence information with data on chromosomal physical location is useful f [...]

2063 10598

Open Access Research Article

Micronucleus-Centromere Assay to Measure Ionizing Radiation Damage of Low Dose Occupational Exposure

Received: 14 August 2018;  Published: 22 October 2018;  doi: 10.21926/obm.genet.1804043

Abstract

Background: The purpose of study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome and centromere-negative micronuclei containing acentric fragment pointing to clastogenic action of ionizing radiation. Methods: The effect of low dose occupational exposure was estimated in 32 nuclear power plant workers using in si [...]

1741 8570

Open Access Book Review

Applications of Fluorescence in Situ Hybridization in Radiation Cytogenetic Biodosimetry and Population Monitoring

Received: 26 August 2018;  Published: 19 October 2018;  doi: 10.21926/obm.genet.1804042

Abstract

The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific DNA sequences. Since then, the technique has undergone various modifications for detecting single genes, chromosomes and whole genomes on various targets such as interphase nucleus, prematurely condensed chromosomes [...]

2365 17281

Open Access Original Research

Evaluation of Recent Statistical Methods for Detecting Differential Methylation Using BS-seq Data

Received: 23 May 2018;  Published: 14 October 2018;  doi: 10.21926/obm.genet.1804041

Abstract

Whole genome profiling of differential DNA methylation between diseased and normal samples has significant implications in research to understand the role of epigenetic regulations of cells. In recent years, the development of bisulfite sequencing (BS-seq)-based molecular technology has enabled the measurement of DNA methylation at a nucleotide resolution throughout the genome. Given the availability of this new type of DNA methylation data, certain features challenge traditional analytical methods such as the Fish [...]

2156 11830

Open Access Review

Current Evidence on the Role of Epigenetic Mechanisms in Migraine: The Way Forward to Precision Medicine

Received: 09 May 2018;  Published: 10 October 2018;  doi: 10.21926/obm.genet.1804040

Abstract

Interactions between genetic and environmental factors in migraine are well known and can potentially determine an individual’s susceptibility to disease and responsiveness to treatment. Consequently, several epigenetic studies have been conducted to determine if and how genes are activated or inactivated in response to a diverse range of environmental migraine triggers. The results, in turn, have helped elucidate how these factors can promote or inhibit migraine progression or therapeutic response and can guide de [...]

1813 13199

Open Access Review

Deciphering the Epigenetic Landscape of Suicidal Behaviour: A Review of Current Findings, Caveats and Future Directions

Received: 20 June 2018;  Published: 06 October 2018;  doi: 10.21926/obm.genet.1804039

Abstract

Suicide is the second leading cause of death globally among young people and the tenth leading cause of death across all ages. Approximately 800,000 people die by suicide every year representing a significant global health burden. Despite this burden, the molecular pathology of suicide remains poorly understood. A number of recent studies have shown that epigenetic alterations are associated with suicidal behaviour. These epigenetic mechanisms, which act to regulate gene expression via modifications to DNA, histone [...]

1877 12676

Open Access Technical Note

Quality Assurance/Quality Control of Fluorescence in Situ Hybridization Tests in Hematologic Malignancies

Received: 22 July 2018;  Published: 03 October 2018;  doi: 10.21926/obm.genet.1804038

Abstract

Because of its’ simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS). In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center, over 15,000 FISH tests are performed each year, including approximately 1,000 BCR-ABL1 and 500 MYC FISH tests, respectively. In this chapter, we introduce the quality assurance/quali [...]

2964 20045

Open Access Original Research

Molecular Cytogenetic Characterization of Two Murine Colorectal Cancer Cell Lines

Received: 30 July 2018;  Published: 19 September 2018;  doi: 10.21926/obm.genet.1803037

Abstract

(1) Background: Colorectal cancer (CRC) is the third most common cancer in human and the fourth leading cause of adult man’s death. Murine tumor cell lines have been established as a model system for CRC, but their cytogenetic properties have so far been only poorly understood. (2) Methods: The two murine colon tumor cell lines CMT-93 and CT26 (also called CT26.WT, CT-26 or CT-26 WT) were investigated in this study by molecular cytogenetic methods, i.e. by multicolor-fluorescence in situ hybridization (mFISH), muri [...]

2595 15735

Open Access Review

Histone O-GlcNAcylation and Potential Biological Functions

Received: 05 July 2018;  Published: 17 September 2018;  doi: 10.21926/obm.genet.1803036

Abstract

Histone modifications play an important role in the control of DNA-based processes by altering the structure and function of chromatin. O-linked N-acetylglucosamine (O-GlcNAc) modification is a form of post-translational modification of proteins that affects the serine (Ser)/threonine (Thr) residues. This process is controlled by a single pair of enzymes, i.e. O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recent evidence indicates the existence of O-GlcNAc modification of histones, with 16 histone O-GlcNAc site [...]

2366 15006

Open Access Case Report

Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035

Abstract

Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of molecular karyotyping has resulted in improving the characterization of sSMC. Methods: Molecular karyotyping was used for the identification of a sSMC in this study. Results: In [...]

2140 11471

Open Access Editorial

Introduction to the Special Issue on Next Generation Sequencing: Short General Overview of NGS

Received: 14 August 2018;  Published: 13 September 2018;  doi: 10.21926/obm.genet.1803034

Abstract

he publication of the double helix DNA structure in 1953 [1] was the kick-off of numerous efforts to understand and unravel the complexity of the human genome. It took 50 years until the human genome project, based on Sanger sequencing, was completed in 2003 [2]. This was followed by what may be considered a revolution in the field of DNA analysis: the introduction of Next Generation Sequencing (NGS) in 2005 consisting of massively parallel sequencing of DNA fragments which allows the high throughput analysis of la [...]

1848 8735

Open Access Case Report

sSMC Characterization in a Male with Turner Syndrome Stigmata

Received: 23 March 2018;  Published: 07 September 2018;  doi: 10.21926/obm.genet.1803033

Abstract

Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46, X, +mar are even more scarce. According to the literature, sSMCT are derived from one of the Y-chromosomes in ~70% of the cases. Thus, to identify the presence of Y-chromosomal material is imperative, since these cases have an increased risk of gonadoblastoma deriving from the streak gonads. Methods: A 24-year-old short statured male presented with [...]

1744 9618

Open Access Review

Epigenetics of IgA Nephropathy: A Brief Review

Received: 27 May 2018;  Published: 06 September 2018;  doi: 10.21926/obm.genet.1803032

Abstract

Immunoglobin A Nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Its development is characterized by the deposition of immune complexes that consist of abnormally galactosylated IgA1 molecules and IgG or IgA autoantibodies in the mesangium and the subsequent induction of renal injury. Recent research has shed light to many aspects of the pathogenesis of the disease, including the contribution of epigenetic modifications in its onset and progression. This review aims to present some of the [...]

1934 9663

Open Access Review

Uniparental Disomy and Imprinting Disorders

Received: 28 June 2018;  Published: 30 August 2018;  doi: 10.21926/obm.genet.1803031

Abstract

Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD. Though its general frequency is unknown, it becomes clinically relevant when it produces homozygosity for recessive pathogenic variations or is associated with chromosomal imbalances. UPDs are well-known for thei [...]

3058 31169

Open Access Review

Prospects for Cure in Wilson Disease

Received: 18 July 2018;  Published: 22 August 2018;  doi: 10.21926/obm.genet.1803030

Abstract

Wilson Disease is a monogenetic disorder of copper metabolism affecting the ATP7B gene. Treatment is lifelong and focuses on removal of copper to arrest disease progression and improve the clinical manifestations of copper toxicity. Currently the only cure is liver transplantation, however, lifelong monitoring and immunosuppressive medications are still needed afterwards. The possibility of introducing functional ATP7B gene through gene therapy provides an exciting potential option for achieving a more permanent cu [...]

1725 10988

Open Access Original Research

New Insights into the Epigenetic Activities of Natural Compounds

Received: 30 May 2018;  Published: 16 August 2018;  doi: 10.21926/obm.genet.1803029

Abstract

Background: With their varied pharmacophores, natural products are interesting tools to open the drug discovery pipeline. Several plant secondary metabolites are components of the human diet and have reported epigenetic activities. In this study, we screened a small natural compound library for epigenetic activities. Methods: Seventy-one different natural products plus 17 controls collected from all collaborating laboratories were screened. Localized DNA methylation (DNAm) was studied on a stretch of the retinoic a [...]

1888 12688

Open Access Opinion

Runs of Homozygosity and Epigenetic Deregulation of Genomic Imprinting

Received: 29 May 2018;  Published: 15 August 2018;  doi: 10.21926/obm.genet.1803028

Abstract

Runs of homozygosity (ROH) are uninterrupted contiguous regions within the genome exhibiting allelic homozygosity (alleles are inherited from the same parent). Genome-wide analyses consistently demonstrate that megabase-scale ROH are ubiquitous in humans, reflecting individual demographic history. The number and length of ROH correlate increasingly with the degree of consanguinity and can be associated with genetic diseases in both inbred and outbred individuals. Genomic imprinting and uniparental disomy (UPD) are [...]

1800 9433

Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

Abstract

The benefits of neonatal screening programs are undeniable: children’s lives are saved, and disease burden and morbidity alleviated. Without a doubt, « classical » neonatal screening programs are in the best interests of newborns. Indeed, those screening programs are recognized among the ten most important public health achievements. However, newborn screening programs raise ethical, legal and social challenges. For example, which criteria should govern whether or not to include a disease in the list of screened co [...]

2014 15196

Open Access Original Research

Epigenetic Symmetry of DLGAP2: Pre-Implantation Maternal Methylation Switches to a Random Monoallelic Profile in Somatic Tissues

Received: 29 May 2018;  Published: 29 July 2018;  doi: 10.21926/obm.genet.1803026

Abstract

Background: Symmetrical DNA methylation profiles of autosomal genes are associated with equal expression by both alleles. Genes with an allelic imbalance or monoallelic expression are associated with discrete intervals of allele-specific methylation (ASM), as highlighted by genomic imprinting, X-chromosome inactivation and genotype-driven ASM. However, a more complex pattern has been described in which random monoallelic methylation provides cells with a unique mechanism for modulating allelic dosage. Methods: We c [...]

2108 15762

Open Access Review

Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease

Received: 17 April 2018;  Published: 27 July 2018;  doi: 10.21926/obm.genet.1803025

Abstract

Some repeats of three or more nucleotides in tandem, which are present in a gene or in its vicinity, tend to increase in number and for this reason are called dynamic mutations. These triplet repeats are unstable and can expand from one generation to the next. According to the expansion size, an unaffected individual can carry a pre-mutation that will expand through generations leading to the development of triplet repeat expansion diseases. The increase in the number of repeats over time leads to earlier developme [...]

2007 9567

Open Access Review

To Opt or Not to Opt for Preimplantation and/or Prenatal Genetic Testing?

Received: 05 June 2018;  Published: 23 July 2018;  doi: 10.21926/obm.genet.1803024

Abstract

Both preimplantation genetic testing (PGT) and prenatal diagnosis (PND) are powerful tools to tackle the transmission of inherited disorders carried by families from generation to generation. Here, we present an overview of the current landscape of both methods and identify the pros and cons of each of these reproductive options. In prenatal testing, non-invasive diagnostic methods have become available as an alternative for invasive diagnosis. Different genome sequencing strategies have now been introduced that en [...]

1904 9739

Open Access Review

Unusual Ways to Lose a Y Chromosome and Survive with Changed Autosomes: a Story of Mole Voles Ellobius (Mammalia, Rodentia)

Received: 16 May 2018;  Published: 22 July 2018;  doi: 10.21926/obm.genet.1803023

Abstract

Species of mole voles Ellobius demonstrate a broad variation in sex chromosomes and autosomes, which is unique among mammals. In four species, a Y chromosome was lost, and X0 or XX sex chromosomes in both sexes were obtained. The key testis-determining Sry (Sex-determining Region on Y) gene is absent in these species, and the regulation of its target, the Sox9 (SRY -box 9) gene, is questionable due to deletion in the key enhancer. In a single species, E. fuscocapillus, with routine XX-XY, the same deletion is prese [...]

2383 15991

Open Access Opinion

On Objectivity in Prenatal Genetic Care

Received: 16 April 2018;  Published: 12 June 2018;  doi: 10.21926/obm.genet.1802022

Abstract

We address an ongoing controversy over what health-care providers tell prospective parents about Down Syndrome (DS). Many parent, disability-rights, and anti-abortion activists believe that the messages that health-care professionals transmit to pregnant women and their partners are distorted. In their view, OB-GYNs, primary-care providers, clinical geneticists, midwives and other medical professionals generally assume that the quality of life for individuals with DS and their families is poor, whereas in fact, tho [...]

2019 11039

Open Access Technical Note

User-Friendly Approach to Gain Isolation of Interphase Cells for Fluorescence in Situ Hybridization

Received: 16 March 2018;  Published: 17 May 2018;  doi: 10.21926/obm.genet.1802021

Abstract

Background:Fluorescence in situ hybridization (FISH) can be performed on metaphase- and/or interphase cells. Metaphase cells can exclusively be obtained and studied after time-consuming cell culture. Therefore, this technique is suitable only for cells derived from peripheral blood, bone marrow or fibroblasts, the latter including skin, tumour or "prenatal tissues", such as the amnion or chorion. On the other hand, interphase cells can be gained from many different cells and even without cell culture. Methods:Here, [...]

1783 9771

Open Access Review

Non-Coding RNAs in Cutaneous Melanoma Development, Progression and Dissemination

Received: 13 March 2018;  Published: 15 May 2018;  doi: 10.21926/obm.genet.1802020

Abstract

Melanoma is a highly aggressive skin cancer with high incidence worldwide. There is growing evidence that aberrantly expressed non-coding RNAs (ncRNAs) play a role in the development, progression and dissemination of melanoma tumor cells. Among the many types of ncRNAs described in this review, the functions of micro- and long non-coding RNAs are described and related to the six hallmarks of cancer. Recently, ncRNAs discovered in body fluids have become known as one of the most promising groups of oncological bioma [...]

1829 9510

Open Access Concept Paper

German Guidelines for Molecular Genetic Diagnostic Testing Using High-throughput Technology, Such As Next-Generation Sequencing

Received: 24 September 2017;  Published: 28 April 2018;  doi: 10.21926/obm.genet.1802019

Abstract

On behalf of the German Society of Human Genetics, we present guidelines for molecular genetic diagnostic testing using high-throughput technology, such as next-generation sequencing (NGS). These guidelines have been formulated by an expert group and reviewed by members of the German Society of Human Genetics. Building on the existing EuroGentest guidelines for diagnostic NGS, these updated guidelines incorporate additional aspects and country-specific topics. New considerations include the introduction of a check [...]

2129 11204

Open Access Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

Received: 10 February 2018;  Published: 19 April 2018;  doi: 10.21926/obm.genet.1802018

Abstract

Women’s reproductive autonomy, and its translation into informed free choice regarding prenatal screening, is a dominant concept in the bioethical discourse concerning prenatal screening. This discourse is based on the premise that access to information regarding the pregnancy promotes autonomous decision-making. However, studies show that the offer of prenatal screening as a routine part of pregnancy care is not supported, to a large degree, by appropriate informed consent mechanisms. This means that the implement [...]

2606 15921

Open Access Original Research

Identification and Prioritization of Causal Variants of Human Genetic Disorders from Exome or Whole Genome Sequencing Data

Received: 24 October 2017;  Published: 16 April 2018;  doi: 10.21926/obm.genet.1802017

Abstract

Background: With genome sequencing entering clinics as a diagnostic tool to detect genetic disorders, there is an increasing need for bioinformatics-based solutions that enable precise causal variant identification in a timely manner. Workflows for the identification of candidate disease-causing variants usually perform the following tasks: i) identification of variants; ii) filtering of variants to remove polymorphisms and technical artifacts; and iii) prioritization of remaining variants to provide a small set of [...]

1981 11829

Open Access Review

Current Understanding of DNA Methylation and Age-related Disease

Received: 12 February 2018;  Published: 11 April 2018;  doi: 10.21926/obm.genet.1802016

Abstract

DNA methylation involves the covalent transfer of a methyl group to the C-5 position of the cytosine ring on a DNA strand. DNA methylation is both heritable and modifiable and can affect gene expression. In recent years, epigenome-wide association studies using high-throughput technologies have associated variation in DNA methylation levels with normal and pathological aging processes in human populations. DNA methylation patterns have been used to construct epigenetic clocks which can serve as potential biomarkers [...]

2876 46421

Open Access Original Research

Application of Clinical Next Generation Sequencing in Intensive Care Facilitates Rapid Diagnosis of Neonates with Rare Genetic Disorders

Received: 31 August 2017;  Published: 06 March 2018;  doi: 10.21926/obm.genet.1801015

Abstract

Background: Neonatal muscular hypotonia is a common clinical feature on neonatal intensive care units with a broad spectrum of etiologies. Besides more common and obvious underlying conditions like prematurity or Down syndrome many rare disorders with often poor prognosis need to be considered. Congenital brain malformations detected on ultrasound or/and magnetic resonance imaging might constitute the clinical hallmark in differential diagnosis. We report on our approach combining cerebral imaging and application o [...]

1867 11004

Open Access Review

Next Generation Sequencing in Autism Spectrum Disorder

Received: 31 August 2017;  Published: 24 February 2018;  doi: 10.21926/obm.genet.1801014

Abstract

Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next gene [...]

1988 12586

Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Received: 13 July 2017;  Published: 11 February 2018;  doi: 10.21926/obm.genet.1801013

Abstract

Technology makes it possible to expand many of the current screening programs. Initiatives for preconception screening of carrier status of recessive diseases, prenatal screening of aneuploidies and neonatal screening were initially undertaken by targeting one or at most, a few, conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of these programs to include more disorders or markers. While inclusion of a larger number of condit [...]

1648 7334

Open Access Editorial

Special Issue: Treatment of Genetic Disease

Received: 18 January 2018;  Published: 31 January 2018;  doi: 10.21926/obm.genet.1801012

Abstract

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.

1748 12589

Open Access Original Research

Next Generation Sequencing and Pediatric Brain Tumors: Detection of Cancer Predisposition Syndromes in Patients and Their Families

Received: 01 September 2017;  Published: 05 December 2017;  doi: 10.21926/obm.genet.1704011

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 [...]

1969 10345

Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010

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 [...]

2010 11812

Open Access Review

Preimplantation Genetic Screening

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

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 [...]

1562 8955

Open Access Review

The Role of Epigenetics in Developmental Programming and the Developmental Origins of Health and Disease

Received: 20 June 2017;  Published: 19 October 2017;  doi: 10.21926/obm.genet.1704008

Abstract

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 [...]

2168 18779

Open Access Review

Prenatal Screening for Fetal Aneuploidy

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

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 [...]

1709 11095

Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

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 [...]

1880 10360

Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

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 [...]

2058 17901

Open Access Opinion

Genes, Culture, and Human Evolution

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

Abstract

none, this is an opinion piece

1469 9934

Open Access Book Review

An Introduction to Molecular Anthropology. By Mark Stoneking. Wiley-Blackwell: Hoboken, NJ, USA, 2017; $129.95; ISBN: 978-1-118-06162-6.

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Abstract

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

1401 7929

Open Access Review

Mechanisms of Origin and Clinical Effects of Multiple Small Supernumerary Marker Chromosomes, Each Derived from a Different Chromosome

Received: 15 November 2016;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701002

Abstract

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 [...]

1697 10946

Open Access Editorial

Treasure Your Exceptions and Submit These to OBM Genetics

Received: 16 January 2017;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701001

887 6660

Open Access Original Research

Valorization of Agro-Industrial Residues into Furfural via Catalytic Pyrolysis

Received: 15 October 2025;  Published: 12 January 2026;  doi: 10.21926/cr.2601002

Abstract

Pyrolysis is a promising technology for converting biomass waste into bio-oil, a liquid product that can serve as feedstock for fuels and high-value chemicals. In this study, bio-oil was produced via catalytic pyrolysis of pear pulp waste, a byproduct from juice and jam manufacturing, using a fixed-bed reactor. Initial non-catalytic experiments were conducted under nitrogen and vacuum atmospheres at temperatures ranging from 300 to 450°C for 15 minutes to evaluate the effect of temperature on bio-oil yield. The res [...]

102 323

Open Access Editorial

Acknowledgment to Reviewers of Catalysis Research in 2025

Received: 03 January 2026;  Published: 04 January 2026;  doi: 10.21926/cr.2601001

Abstract

The editors of Catalysis Research would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. 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 [...]

180 374

Open Access Original Research

Paranitrophenol and Organic Azo Dye Degradation: Catalytic Power of Terminalia Leaf Silver Nanoparticles

Received: 19 September 2025;  Published: 01 December 2025;  doi: 10.21926/cr.2504010

Abstract

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 [...]

259 1241

Open Access Original Research

Fabrication of CuO-Decorated Fe2O3 Nanoparticles as Efficient and Durable Electrocatalyst for Oxygen Evolution Reaction

Received: 09 August 2025;  Published: 07 November 2025;  doi: 10.21926/cr.2504009

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 [...]

460 1828

Open Access Editorial

The Next Frontier in Photocatalytic Hydrogen Generation

Received: 24 October 2025;  Published: 03 November 2025;  doi: 10.21926/cr.2504008

581 2105

Open Access Editorial

Advances in Photocatalytic Methods for Organic Pollutant Removal

Received: 01 July 2025;  Published: 03 August 2025;  doi: 10.21926/cr.2503007

994 3766

Open Access Editorial

Catalysis for Biomass Conversion: Pioneering Emission Control and Sustainable Energy Futures

Received: 08 July 2025;  Published: 10 July 2025;  doi: 10.21926/cr.2503006

995 4264

Open Access Editorial

Catalysis, Meet the Machine: From Models to Meaning

Received: 25 June 2025;  Published: 27 June 2025;  doi: 10.21926/cr.2502005

684 3812

Open Access Review

Lignocellulosic Biomass and Enzymes: Fundamentals, Emerging Technologies, and Applications

Received: 25 January 2025;  Published: 19 June 2025;  doi: 10.21926/cr.2502004

Abstract

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 [...]

1008 7416

Open Access Original Research

Soil Treatment from Hazardous Particles Using Designed Nanosensors: A Physical and Chemical Analysis

Received: 11 November 2024;  Published: 06 March 2025;  doi: 10.21926/cr.2501003

Abstract

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 [...]

825 4135

Open Access Original Research

Catalytic Performance of CO:Ni Mixed Oxide Based Catalyst for Green Fuel Synthesis from Biomass Derived Citrullus Colocynthis Oil

Received: 18 September 2024;  Published: 08 January 2025;  doi: 10.21926/cr.2501002

Abstract

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 [...]

1749 8240

Open Access Editorial

Acknowledgment to Reviewers of Catalysis Research in 2024

Received: 02 January 2025;  Published: 02 January 2025;  doi: 10.21926/cr.2501001

Abstract

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 [...]

576 3257

Open Access Editorial

MOF-based Heterogeneous Catalysis: A Frontier in Sustainable Chemical Transformations

Received: 02 December 2024;  Published: 05 December 2024;  doi: 10.21926/cr.2404014

1184 7319

Open Access Editorial

Opportunities and Challenges of Molecular Catalysts

Received: 28 November 2024;  Published: 02 December 2024;  doi: 10.21926/cr.2404013

1016 4260

Open Access Editorial

Advanced Catalysis for Green Fuel Production from Biomass and Wastes

Received: 19 August 2024;  Published: 22 August 2024;  doi: 10.21926/cr.2403012

1033 5135

Open Access Review

Exploration of Molybdenum Oxide Compounds-A Review

Received: 17 February 2024;  Published: 09 August 2024;  doi: 10.21926/cr.2403011

Abstract

The evolution of nanomaterials has been critical in modifying materials at the nanoscale for specialized uses. Carbon nanotubes were initially viewed as promising for electronics, but their inability to discriminate between semiconducting and metallic phases led to the creation of quasi-two-dimensional (Q-2D) materials. Molybdenum nanoparticles are utilized as alloy additions in corrosive and high-vacuum environments. Their characteristics differ significantly from those of their bulk counterparts. This review anal [...]

3757 23614

Open Access Original Research

Leaf Mediated Curcuma sp. Silver Nanoparticles as Catalyst - Evaluating Their Antioxidant, Cytotoxicity, Para-Nitrophenol Catalytic and Photocatalytic Activity

Received: 29 April 2024;  Published: 22 July 2024;  doi: 10.21926/cr.2403010

Abstract

Nanotechnology is a fast-rising market in catalytic research; however, the production of eco-friendly nanoparticles remains a significant challenge. In this study, silver nanoparticles (AgNPs) were synthesized from the agro-industrial waste of leaves of C. longa, C. aromatica, C. caesia, C. zedoaria, and C. amada at RT after 24 h, which was confirmed with UV-spectrophotometric evaluation between 320-520 nm. SEM revealed cubic and 30-50 nm AgNPs, while band-gap energy was presented as semi-conductors. Synthesized Ag [...]

1226 8410

Open Access Research Article

Kinetic Model for the Hydrolysis of Olive Oil by Lipase in Absence of Emulsifier

Received: 27 March 2024;  Published: 18 July 2024;  doi: 10.21926/cr.2403009

Abstract

Lipase-catalyzed hydrolysis of olive oil has been studied in the absence of emulsifier. A simple mathematical model to predict the hydrolysis rate is derived from a proposed kinetic mechanism of the reaction. The hydrolytic reaction obeys Michaelis-Menten kinetics with a simultaneous second-order enzyme deactivation. The model predictions closely agree with the experimental results.

1275 8684

Open Access Original Research

Effective Photogeneration of Singlet Oxygen and High Photocatalytic and Antibacterial Activities of Porous Mn-Doped ZnO-ZrO2 Nanocomposites

Received: 06 April 2024;  Published: 03 July 2024;  doi: 10.21926/cr.2403008

Abstract

Disperse porous Mn-doped ZnO-ZrO2 nanocomposites were prepared using the facile polymer-salt method. The effect of Mn content on the crystal structure, composite morphologies, their ability to photogenate the singlet oxygen, luminescence properties, and bactericidal activities were studied. The crystal structure and morphology of these materials were investigated using XRD and SEM analysis. It was found that obtained nanocomposites consist of small (~9 nm) hexagonal ZnO and fine ZrO2 crystals and the embedding of M [...]

881 6597

Open Access Original Research

Determination of Reflectance Spectra and Colorimetry of Titanium and Tungsten Oxides Obtained by Microwave-assisted Hydrothermal Synthesis

Received: 04 February 2024;  Published: 01 July 2024;  doi: 10.21926/cr.2403007

Abstract

Sustainability has driven the use of heterogeneous photocatalysis as one of the primary methods for environmental decontamination, reduction, degradation, remediation, or transformation of polluting chemical residues and purification treatment of effluents and wastewater. TiO2 is the most commonly used semiconductor in heterogeneous photocatalysis. It acquires relevance, as it has favorable properties, such as non-toxicity, stability in a wide range of pH, economic viability, etc., which encourage its application a [...]

867 5428

Open Access Review

llmenite and Biomass Composite Nanomaterials - A Review

Received: 10 April 2024;  Published: 13 June 2024;  doi: 10.21926/cr.2402006

Abstract

Ilmenite is a mineral whose crystallinity can be altered by chemical treatment, producing TiO2 and iron and titanium-based metal nanocomposites, which are applicable mainly for photocatalysis. Porous and crystalline biomass-derived carbon materials include graphene oxide, reduced graphene oxide, graphitic carbon nitride, catalytically graphitized sucrose and chitosan, and activated carbon. Ilmenite-based metal oxides coupled with biomass-based carbon materials are effective in environmental remediation, especially [...]

1174 7976

Open Access Original Research

A Remarkable Pt Doped CNT Catalyst as a Double Functional Material: Its Application for Hydrogen Production and Supercapacitor

Received: 25 December 2023;  Published: 15 May 2024;  doi: 10.21926/cr.2402005

Abstract

In this study, by producing bifunctional material, hydrolysis, and supercapacitor applications were investigated. The carbon nanotube-supported Pt catalyst was prepared using the sodium borohydride (NaBH4) reduction. Surface characterization of the synthesized Pt/CNT catalyst was performed using scanning electron microscopy-energy dıstrıbutıon X-ray spectrometer (SEM-EDX), X-ray diffraction (XRD), and transmission electron microscopy (TEM). Hydrolysis experiments were performed after deciding on the appropriate ato [...]

1141 6878

Open Access Editorial

Solid Catalysts – New Perspectives and Applications

Received: 31 March 2024;  Published: 09 April 2024;  doi: 10.21926/cr.2402004

1086 6785

Open Access Original Research

The Effect of SnO2 and Rh on Pt Nanowire Catalysts for Ethanol Oxidation

Received: 24 November 2023;  Published: 11 March 2024;  doi: 10.21926/cr.2401003

Abstract

In this study, we synthesized Pt-Rh nanowires (NWs) through chemical reduction of metallic precursors using formic acid at room temperature, excluding the use of surfactants, templates, or stabilizing agents. These NWs were supported on two substrates: carbon (Vulcan XC-72R) and carbon modified with tin oxide (SnO2) via the sol-gel method (10 wt.% SnO2). We explored the electroactivity of Pt/SnO2/C, Pt-Rh/C, Pt-Rh/SnO2(commercial)/C (commercial SnO2), and Pt-Rh/SnO2/C NWs toward electrochemical oxidation of ethanol [...]

1724 9217

Open Access Research Article

Synthesis of NaA Zeolite: Conventional Route and Green Route

Received: 24 October 2023;  Published: 28 January 2024;  doi: 10.21926/cr.2401002

Abstract

The research describes a sustainable approach for the synthesis of zeolite NaA using kaolin as an alternative source of silica. The main objective of this research was to prepare NaA zeolite using metakaolin derived from kaolin from the state of Rio Grande do Norte, Brazil, as an alternative source of silica, reducing the production cost and evaluating its thermal stability. In addition, a study of the thermal stability of the zeolite and cost estimates for zeolite production were carried out. Traditional methods o [...]

1744 11694

Open Access Editorial

Acknowledgement to Reviewers of Catalysis Research in 2023

Received: 03 January 2024;  Published: 04 January 2024;  doi: 10.21926/cr.2401001

Abstract

The editors of Catalysis Research would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2023. 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 th [...]

758 4949

Open Access Research Article

NaY Zeolite Synthesis from Vermiculite and Modification with Surfactant

Received: 24 October 2023;  Published: 26 December 2023;  doi: 10.21926/cr.2304031

Abstract

This work focuses on preparing NaY zeolite using alternative sources of silica and modifying the zeolite with the surfactant cetyltrimethylammonium bromide. Two different hydrothermal synthesis routes were employed: the conventional method using sodium silicate as the silica source, and the other is a sustainable approach using vermiculite clay as the silica source. In traditional zeolite synthesis, sodium silicate is often used as the source of silica. However, . The vermiculite was subjected to an acid treatment, [...]

1732 10111

Open Access Research Article

Synthesis of SAPO-34 Zeolite Membrane: Influence of Sources of Silica

Received: 03 October 2023;  Published: 11 December 2023;  doi: 10.21926/cr.2304030

Abstract

The research described the production and characterization of various materials, particularly alpha-alumina ceramic supports, zeolite SAPO-34, and zeolite membranes. Ceramic supports were manufactured through dry uniaxial compaction. Sintering of the supports was carried out at 1300°C for 2 h. SAPO-34 zeolites and zeolite membranes were synthesized through a hydrothermal process involving two steps: a first step at 38°C for 24 h and a second step at 200°C for 24 h. The research aimed to determine how different sili [...]

1473 11075

Open Access Original Research

In Water High Yield and Selectivity of CH4 and H2 Production from CO2 Using UVC Light and a SiO2-surface-modified TiO2 Photocatalysts

Received: 25 August 2023;  Published: 05 December 2023;  doi: 10.21926/cr.2304029

Abstract

To improve CH4 and H2 formation from CO2 photoreduction using non-organic, non-laborious, and inexpensive photocatalysts, we have prepared two surface-silicate-modified TiO2 catalysts: P25-SiO2 and AmTiO2-SiO2 (amorphous TiO2) to be tested in water and using UV light. The last catalyst produces more CH4 and H2 in water than P25 (3:1 TiO2 anatase: rutile) under UV light irradiation of HCO3- and CO2; am-TiO2-SiO2 at pH = 7, produces 8 times more CH4 and H2 than P25 with selectivity at the reactor headspace of 30% and [...]

1717 8468

Open Access Research Article

Nano Metal Oxide Frameworks (NOF): Development of New Heterogeneous Catalyst for the Synthesis of Furan Derivatives from Glucose

Received: 01 June 2023;  Published: 21 November 2023;  doi: 10.21926/cr.2304028

Abstract

A surface modification approach has prepared a nanostructured organic framework connecting two metal oxide NPs. The surface modifier attached two metal oxide NPs via molecular interaction to generate modular structures of fiber, rod, or sponge materials. Thus, obtained hybrid systems have been confirmed through FT-IR, TGA, PXRD, and SEM. Metal oxides such as Fe3O4 and MgO generated mixed materials via the surface modification approach. Thus, obtained materials have been successfully used to dehydrate biomass-derive [...]

1793 8522

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