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Topic Review
Retrotransposons and Their Impact on Mammalian Genome Evolution
Retrotransposons, a large and diverse class of transposable elements that are still active in humans, represent a remarkable force of genomic innovation underlying mammalian evolution.
  • 1.8K
  • 31 Aug 2022
Topic Review
Lactate Dehydrogenase Deficiency
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.
  • 1.8K
  • 23 Dec 2020
Topic Review
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
  • 1.8K
  • 24 Dec 2020
Topic Review
Molecular Markers
Fungi are amongst the most abundant and diverse organisms. Despite being widely known for their adverse role in food spoilage or as pathogens for humans, animals, or plants, they also present several beneficial effects. Fungi contribute to human well-being due to their role as decomposers, degrading decay matter into smaller molecules which can be easily used by other ecosystem members. These organisms can produce medicinal compounds or modulate protective immune responses in human intestine. Fungi intervene in diverse food processes or act as a food supply. Due to fungal diversity, the unequivocal identification of these organisms is crucial to increasing their practical applications and decreasing their adverse effects.
  • 1.8K
  • 02 Aug 2022
Topic Review
Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by the hepatic deficiency of porphobilinogen deaminase (PBGD) and the slowdown of heme biosynthesis. AIP symptomatology includes life-threatening, acute neurovisceral or neuropsychiatric attacks manifesting in response to precipitating factors.
  • 1.8K
  • 15 Mar 2022
Topic Review
Chromosome Conformation Signatures
Epigenetic mechanisms mediate the integration of genetic and environmental factors that are responsible for changes in phenotypes. The organisation of the human genome within three-dimensional space (the 3D genome) is a dynamic epigenetic regulator of phenotypic expression. Mediated through the changing spatial proximity of genomic regions relative to one another in 3D space, ‘chromosome conformations’ have emerged in the past several years as a novel class of molecular switches that regulate cellular and physiological processes. Technological advances in the detection of chromosome conformations have spawned a new class of biomarker - the chromosome conformation signature (CCS) - that identifies chromosomal interactions across multiple genomic loci as a collective marker of distinct epigenomic states. The use of CCSs in basic and clinical research has shown recent applications in identifying disease states, subtyping disease states, and prospectively stratifying individuals according to their likely response to medical intervention.
  • 1.8K
  • 19 Aug 2020
Topic Review
CRISPR-Cas9 in Fruit and Vegetable
Fruit and vegetable crops are rich in dietary fibre, vitamins and minerals, which are vital to human health. However, many biotic stressors (such as pests and diseases) and abiotic stressors threaten crop growth, quality, and yield. Traditional breeding strategies for improving crop traits include a series of backcrosses and selection to introduce beneficial traits into fine germplasm, this process is slow and resource-intensive. The new breeding technique known as clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein-9 (Cas9) has the potential to improve many traits rapidly and accurately, such as yield, quality, disease resistance, abiotic stress tolerance, and nutritional aspects in crops. Because of its simple operation and high mutation efficiency, this system has been applied to obtain new germplasm resources via gene-directed mutation.
  • 1.7K
  • 04 Aug 2021
Topic Review
CIPA
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.
  • 1.7K
  • 04 Jan 2021
Topic Review
Rippling Muscle Disease
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable).
  • 1.7K
  • 24 Dec 2020
Topic Review
Baraitser-Winter Syndrome
Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.
  • 1.7K
  • 24 Dec 2020
Topic Review
FBLN5 Gene
Fibulin 5: The FBLN5 gene provides instructions for making a protein called fibulin-5. 
  • 1.7K
  • 25 Dec 2020
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.
  • 1.7K
  • 07 Nov 2022
Topic Review
Fitness
Fitness (often denoted [math]\displaystyle{ w }[/math] or ω in population genetics models) is the quantitative representation of individual reproductive success. It is also equal to the average contribution to the gene pool of the next generation, made by the same individuals of the specified genotype or phenotype. Fitness can be defined either with respect to a genotype or to a phenotype in a given environment or time. The fitness of a genotype is manifested through its phenotype, which is also affected by the developmental environment. The fitness of a given phenotype can also be different in different selective environments. With asexual reproduction, it is sufficient to assign fitnesses to genotypes. With sexual reproduction, recombination scrambles alleles into different genotypes every generation; in this case, fitness values can be assigned to alleles by averaging over possible genetic backgrounds. Natural selection tends to make alleles with higher fitness more common over time, resulting in Darwinian evolution. The term "Darwinian fitness" can be used to make clear the distinction with physical fitness. Fitness does not include a measure of survival or life-span; Herbert Spencer's well-known phrase "survival of the fittest" should be interpreted as: "Survival of the form (phenotypic or genotypic) that will leave the most copies of itself in successive generations." Inclusive fitness differs from individual fitness by including the ability of an allele in one individual to promote the survival and/or reproduction of other individuals that share that allele, in preference to individuals with a different allele. One mechanism of inclusive fitness is kin selection.
  • 1.7K
  • 31 Oct 2022
Topic Review
KMT2A (Lysine Methyltransferase 2A)
KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. KMT2A germinal mutations are associated to Wiedemann–Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin–Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein–Taybi syndrome), sharing an overlapping phenotype. On the other hand, KMT2A somatic mutations have been reported in several tumors, mainly blood malignancies. Due to its evolutionary conservation, the role of KMT2A in embryonic development, hematopoiesis and neurodevelopment has been explored in different animal models, and epigenetic treatments for disorders linked to KMT2A dysfunction have been extensively investigated. 
  • 1.7K
  • 06 Apr 2022
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. 
  • 1.7K
  • 30 Oct 2020
Topic Review
TRAPS
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever.
  • 1.7K
  • 23 Dec 2020
Topic Review
L1 Syndrome
L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
  • 1.7K
  • 23 Dec 2020
Topic Review
Telomere Structure and Homeostasis
Telomere dynamics play a crucial role in the maintenance of chromosome integrity; changes in telomere length may thus contribute to the development of various diseases including cancer. Understanding the role of telomeric DNA in carcinogenesis and detecting the presence of cell-free telomeric DNA (cf-telDNA) in body fluids offer a potential biomarker for novel cancer screening and diagnostic strategies. Telomeres are protected by specialized nucleoprotein capping structures consisting of DNA and shelterin protein complexes.
  • 1.7K
  • 20 Apr 2023
Topic Review
DNA Loading Using Extracellular Vesicles
Gene therapy is a therapeutic strategy of delivering foreign genetic material (encoding for an important protein) into a patient’s target cell to replace a defective gene. Nucleic acids are embedded within the adeno-associated virus (AAVs) vectors; however, preexisting immunity to AAVs remains a significant concern that impairs their clinical application. Extracellular vesicles (EVs) hold great potential for therapeutic applications as vectors of nucleic acids due to their endogenous intercellular communication functions through their cargo delivery, including lipids and proteins. So far, small RNAs (siRNA and micro (mi)RNA) have been mainly loaded into EVs to treat several diseases, but the potential use of EVs to load and deliver exogenous plasmid DNA has not been thoroughly described.
  • 1.7K
  • 02 Sep 2020
Topic Review
Prion Protein Gene (PRNP) in Dogs
Transmissible spongiform encephalopathies (TSEs) have been reported in a wide range of species. However, TSE infection in natural cases has never been reported in dogs. Previous studies have reported that polymorphisms of the prion protein gene (PRNP) have a direct impact on the susceptibility of TSE. However, studies on polymorphisms of the canine PRNP gene are very rare in dogs. We examined the genotype, allele, and haplotype frequencies of canine PRNP in 204 dogs and analyzed linkage disequilibrium (LD). In addition, to evaluate the impact of nonsynonymous polymorphisms on prion protein (PrP), we carried out in silico analysis.
  • 1.7K
  • 18 Jun 2020
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