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Topic Review
Genomics in Personalized Nutrition
Genome-wide single nucleotide polymorphism (SNP) data are now quickly and inexpensively acquired, raising the prospect of creating personalized dietary recommendations based on an individual's genetic variability at multiple SNPs. In this review, we discuss the current potential for precision nutrition based on an individual's genetic data. We also review complicating issues and their impact on our ability to predict responses to dietary interventions. 
  • 948
  • 30 Oct 2020
Topic Review
Sex Maintenance in Mammals
Sex maintenance in mammals is important in sexual differentiation. The crucial event in mammalian sexual differentiation occurs at the embryonic stage of sex determination, when the bipotential gonads differentiate as either testes or ovaries, according to the sex chromosome constitution of the embryo, XY or XX, respectively. Once differentiated, testes produce sexual hormones that induce the subsequent differentiation of the male reproductive tract. On the other hand, the lack of masculinizing hormones in XX embryos permits the formation of the female reproductive tract. It was long assumed that once the gonad is differentiated, this developmental decision is irreversible. However, several findings in the last decade have shown that this is not the case and that a continuous sex maintenance is needed. Deletion of Foxl2 in the adult ovary lead to ovary-to-testis transdifferentiation and deletion of either Dmrt1 or Sox9/Sox8 in the adult testis induces the opposite process. In both cases, mutant gonads were genetically reprogrammed, showing that both the male program in ovaries and the female program in testes must be actively repressed throughout the individual’s life. In addition to these transcription factors, other genes and molecular pathways have also been shown to be involved in this antagonism. 
  • 948
  • 27 Jul 2021
Topic Review
Inheriting Genetic Conditions
It is not always easy to determine whether a condition in a family is inherited. A genetics professional can use a person's family history (a record of health information about a person's immediate and extended family) to help determine whether a disorder has a genetic component.
  • 946
  • 24 Dec 2020
Topic Review
EGFR Gene
Epidermal growth factor receptor
  • 946
  • 04 Jan 2021
Topic Review
Schizophrenia
Schizophrenia is a brain disorder classified as a psychosis, which means that it affects a person's thinking, sense of self, and perceptions. The disorder typically becomes evident during late adolescence or early adulthood.
  • 942
  • 04 Jan 2021
Topic Review
17q12 duplication
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.
  • 941
  • 23 Dec 2020
Topic Review
Prenatal Detection of Uniparental Disomies
Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues.
  • 940
  • 21 Dec 2020
Topic Review
DNA Polymerases
Recent studies on tumor genomes revealed that mutations in genes of replicative DNA polymerases cause a predisposition for cancer by increasing genome instability. The past 10 years have uncovered exciting details about the structure and function of replicative DNA polymerases and the replication fork organization. The principal idea of participation of different polymerases in specific transactions at the fork proposed by Morrison and coauthors 30 years ago and later named “division of labor,” remains standing, with an amendment of the broader role of polymerase δ in the replication of both the lagging and leading DNA strands. However, cancer-associated mutations predominantly affect the catalytic subunit of polymerase ε that participates in leading strand DNA synthesis. 
  • 940
  • 14 Dec 2020
Topic Review
Mitochondrial DNA and DOHaD
Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes (mitochondrial DNA (mtDNA)) and the abnormalities, such as point mutations, deletions, and copy number variations, are involved in mitochondrial dysfunction. In recent years, several epidemiological studies and animal experiments have supported the Developmental Origin of Health and Disease (DOHaD) theory, which states that the environment during fetal life influences the predisposition to disease and the risk of morbidity in adulthood. Mitochondria play a central role in energy production, as well as in various cellular functions, such as apoptosis, lipid metabolism, and calcium metabolism.
  • 939
  • 19 Jul 2021
Topic Review
C-Fos
In the fields of molecular biology and genetics, c-fos is a proto-oncogene that is the human homolog of the retroviral oncogene v-fos. It was first discovered in rat fibroblasts as the transforming gene of the FBJ MSV (Finkel–Biskis–Jinkins murine osteogenic sarcoma virus) (Curran and Tech, 1982). It is a part of a bigger Fos family of transcription factors which includes c-Fos, FosB, Fra-1 and Fra-2. It has been mapped to chromosome region 14q21→q31. c-Fos encodes a 62 kDa protein, which forms heterodimer with c-jun (part of Jun family of transcription factors), resulting in the formation of AP-1 (Activator Protein-1) complex which binds DNA at AP-1 specific sites at the promoter and enhancer regions of target genes and converts extracellular signals into changes of gene expression. It plays an important role in many cellular functions and has been found to be overexpressed in a variety of cancers.
  • 935
  • 07 Nov 2022
Topic Review
Immune Mediated Diseases
Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them.
  • 934
  • 22 Dec 2020
Topic Review
Mediterranean Diet (MD)
The Mediterranean Diet (MD), UNESCO Intangible Cultural Heritage of Humanity, has become a scientific topic of high interest due to its health benefits. The aim of this review is to pick up selected studies that report nutrigenomic or nutrigenetic data and recapitulate some of the biochemical/genomic/genetic aspects involved in the positive health effects of the MD. These include (i) the antioxidative potential of its constituents with protective effects against several diseases; (ii) the epigenetic and epigenomic effects exerted by food components, such as Indacaxanthin, Sulforaphane, and 3-Hydroxytyrosol among others, and their involvement in the modulation of miRNA expression; (iii) the existence of predisposing or protective human genotypes due to allelic diversities and the impact of the MD on disease risk. A part of the review is dedicated to the nutrigenomic effects of the main cooking methods used in the MD and also to a comparative analysis of the nutrigenomic properties of the MD and other diet regimens and non-MD-related aliments. Taking all the data into account, the traditional MD emerges as a diet with a high antioxidant and nutrigenomic modulation power, which is an example of the “Environment-Livings-Environment” relationship and an excellent patchwork of interconnected biological actions working toward human health.
  • 932
  • 25 Apr 2021
Topic Review
BARD1 Mutations
A catalog of BARD1 germline mutations/pathogenic variants (PVs) identified in large cumulative cohorts of ~48,700 breast cancer (BC) and ~20,800 ovarian cancer (OC) cases prepared based on 123 studies published over 20 years of BARD1 gene screening. By comparing the frequency of BARD1 PVs in the cases and ~134,100 noncancer controls from the gnomAD database, the effect of the BARD1 PVs on BC and OC risks is estimated.  
  • 932
  • 30 Jul 2020
Topic Review
Breast Cancer Subtypes
The purpose of this study was to classify breast cancer subtypes by using deep neural networks based on multi-omics data from TCGA. The classification results show that, by using the proposed model, integrating multi-omics datasets can improve the performance as compared to using single omics data for classifying breast cancer subtypes.
  • 927
  • 09 Feb 2021
Topic Review
Poly ADP-Ribose Polymerases
Poly ADP-ribose polymerases (PARP) are specialized enzymes that catalyze the addition of ADP ribose units from “nicotinamide adenine dinucleotide-donor molecules” to their target substrates.
  • 926
  • 02 Jul 2021
Topic Review
Histidine-Based Carriers
During the past two decades, there have been significant advances in nucleic acid carriers modified by histidines or histidine-rich domains.  There are several properties of histidines, primarily emanating from their buffering of acidic endosomes, which augment transfection.  These roles from protonated histidines include osmotic swelling with lysis of endosomes, unpacking of the carrier complex, and release of the nucleic acids to enable the carrier to interact with the endosomal membrane.  Histidines or histidine-rich peptides have been incorporated into polymers, conjugated to lipids, phages, and mesoporous silica particles, as well as formed shields around nanoparticles.  These carriers have demonstrated significant potential to import into the cytosol different forms of nucleic acids including plasmids, siRNA, and mRNA. 
  • 923
  • 08 Nov 2020
Topic Review
Actin-accumulation Myopathy
Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.
  • 921
  • 23 Dec 2020
Topic Review
Satellite DNA of primate genome
Satellite DNA (satDNA) is defined as highly repetitive DNA consisting of short sequences tandemly repeated a large number of times. Collectively known as the "satellitome", this genomic component offers exciting evolutionary insights into aspects of primate genome biology that raise new questions and challenge existing paradigms. 
  • 921
  • 25 Jan 2021
Topic Review
ADNP Syndrome
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.  
  • 920
  • 23 Dec 2020
Topic Review
Transcriptomes through mRNA Splicing
Human transcriptomes are more divergent than genes and contribute to the sophistication of life. This divergence is derived from various isoforms arising from alternative splicing. In addition, alternative splicing regulated by spliceosomal factors and RNA structures, such as the RNA G-quadruplex, is important not only for isoform diversity but also for regulating gene expression. Therefore, abnormal splicing leads to serious diseases such as cancer and neurodegenerative disorders.We describe the regulation of divergent transcriptomes using alternative mRNA splicing.
  • 919
  • 01 Nov 2020
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