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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.
  • 1.5K
  • 23 Dec 2020
Topic Review
Transposable Elements
Transposable elements (TEs) are mobile DNA sequences that can jump from one genomic locus to another and that have colonized the genomes of all living organisms. While TE mobilization is an important source of genomic innovations that greatly contribute to the host species evolution, it is also a major threat to genome integrity that can lead to pathologies.
  • 1.5K
  • 26 May 2022
Topic Review
Mammalian Target of Rapamycin
The entry outlines the discovery of mTOR and describes mTOR complex 1 (mTORC1) and mTORC2.
  • 1.5K
  • 26 Oct 2020
Topic Review
Microsatellite Instability
Microsatellite Instability (MSI) is the hallmark of Lynch syndrome and it was first described in colorectal cancer patients in 1913. Later the definition was broadened and extracolonic tumors have been included.
  • 1.5K
  • 19 Jan 2021
Topic Review
Pre-mRNA Splicing
Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high risk of progression to acute myeloid leukemia. Recent findings indicate that mutations in splicing factors represent a novel class of driver mutations in human cancers and affect about 50% of Myelodysplastic syndrome (MDS) patients. Somatic mutations in MDS patients are frequently found in genes SF3B1, SRSF2, U2AF1, and ZRSR2. Interestingly, they are involved in the recognition of 3′ splice sites and exons. It has been reported that mutations in these splicing regulators result in aberrant splicing of many genes.
  • 1.5K
  • 12 Aug 2021
Topic Review
IBMPFD
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.
  • 1.5K
  • 04 Jan 2021
Topic Review
The Chromosome Organization in the Cell Nuclei
The spatial organization of the genome into the cell nucleus plays a central role in controlling several genome functions, such as gene expression and DNA replication timing during the S-phase of the cell cycle. Here we show how chromosomes are organized in the cell nucleus according to the gene density and to the GC-level of the various chromosomal bands, allowing a corrected and coordinated gene expression during cell life. The human genome, such as the genome of the other mammals, is composed by two very different parts: one very gene-dense, replicated at the onset of the S-phase, very GC-rich and the other endowed with opposite features. These two genomic compartments are localized far apart within a chromosome, with regions having intermediate properties located between them. This determines a zig-zag organization of the larger chromosomes, to position the gene-poorest genome compartment at the nuclear periphery and the gene-richest one at the nuclear interior.
  • 1.4K
  • 05 Jan 2022
Topic Review
Myostatin Gene Polymorphisms with Strength Phenotype of Athletes
Polymorphism (rs1805086), c.458A>G, p.Lys(K)153Arg(R), (K153R) of the myostatin gene (MSTN) has been associated with a skeletal muscle phenotype (hypertrophic response in muscles due to strength training). The K153R polymorphism is significant in the development of muscle mass and strength. The rare R variant increases the inhibition of MSTN synthesis, thereby leading to an increase in skeletal muscle mass and muscle strength. The R variant is favorable for sports in which muscle strength and mass are important, such as bodybuilding, powerlifting, weightlifting, arm wrestling, kettlebell lifting, shot put, and bobsleigh. It can be assumed that the strong effect of this allele on the ability to become a successful athlete in weightlifting and speed-power sports is based on the inhibition of MSTN synthesis. 
  • 1.4K
  • 01 Feb 2023
Topic Review
X Chromosome
The X chromosome is one of the two sex chromosomes in humans (the other is the Y chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell.
  • 1.4K
  • 24 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.
  • 1.4K
  • 23 Dec 2020
Topic Review
Genetic Loci Underlying Awn Morphology in Barley
Awns are a transformed leaf blade that extends from the lemmas of the florets, and can contribute significantly to the grain filling via active photosynthesis. Barley awns are highly diverse in morphology, ranging from long to short or awnless types, and from straight to hooded or crooked shapes. The morphological diversity, importance to grain yield and ease of study of barley awns have intrigued plant geneticists for several decades. A large set of genetic loci associated with the development of awns have been identified genetically and mapped to chromosomes.
  • 1.4K
  • 03 Nov 2021
Topic Review
Peptide Hormones
Small peptides are important signaling molecules that coordinate comprehensive intercellular communication in numerous aspects of developmental processes in plants.
  • 1.4K
  • 08 Jan 2021
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.
  • 1.4K
  • 31 Oct 2022
Topic Review
Neural Crest Cells
The neural crest shows an astonishing multipotency, generating multiple neural derivatives, but also pigment cells, skeletogenic and other cell types. Here w consider how these multipotent cells may give rise to all those diverse cell-types.  
  • 1.4K
  • 27 Dec 2021
Topic Review
KIT Gene
KIT proto-oncogene receptor tyrosine kinase
  • 1.4K
  • 23 Dec 2020
Topic Review
SARS-CoV-2 Genome
An enigmatic localized pneumonia escalated into a worldwide COVID-19 pandemic from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). This review aims to consolidate the extensive biological minutiae of SARS-CoV-2 which requires decipherment. Having one of the largest RNA viral genomes, the single strand contains the genes ORF1ab, S, E, M, N and ten open reading frames. Highlighting unique features such as stem-loop formation, slippery frameshifting sequences and ribosomal mimicry, SARS-CoV-2 represents a formidable cellular invader. Hijacking the hosts translational engine, it produces two polyprotein repositories (pp1a and pp1ab), armed with self-cleavage capacity for production of sixteen non-structural proteins. Novel glycosylation sites on the spike trimer reveal unique SARS-CoV-2 features for shielding and cellular internalization. Affording complexity for superior fitness and camouflage, SARS-CoV-2 challenges diagnosis and vaccine vigilance.
  • 1.4K
  • 21 Jan 2021
Topic Review
TRNA Modifications in Microorganisms
Transfer RNAs (tRNAs) are essential adaptors that mediate translation of the genetic code. Modifications to tRNA are installed as post-transcriptional events at multiple locations on the tRNA structure by specialized tRNA-modifying enzymes and can occur at the 2’OH group of the ribose moiety as well as various positions of all A, C, G, and U bases. These modifications are diverse in their chemical structures and functional properties, and respond to nutritional and environmental factors.
  • 1.4K
  • 18 Aug 2020
Topic Review
Whole Genome Amplification in Preimplantation Genetic Testing
Successful whole genome amplification (WGA) is a cornerstone of contemporary preimplantation genetic testing (PGT). Choosing the most suitable WGA technique for PGT can be particularly challenging.
  • 1.4K
  • 27 Jul 2022
Topic Review
Wilson’s Disease
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to a defective biliary excretion of copper. Subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has specific treatment, so that early diagnosis is crucial in order to avoid the progression of the disease and its devastating consequences. The clinical diagnosis of WD is based on the Leipzig scale, which considers clinical, histological, biochemical and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score result to suffer from other condition that mimics the WD’s phenotype (Wilson-like).
  • 1.4K
  • 22 Sep 2021
Topic Review
BARD1 and Tumor Development
BARD1 is a very important BRCA1 binding partner and plays a key role in the development of a variety of tumors. Similar to BRCA1, BARD1 has been implicated in the development of breast and gynecological cancers. In addition, BARD1 also plays a role in the development of non-breast and non-gynecological cancers.
  • 1.4K
  • 30 Jul 2020
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