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Topic Review
MEGDEL Syndrome
MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L).
  • 1.4K
  • 23 Dec 2020
Topic Review
Computer-Aided Drug Discovery for SMA
Spinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (SMN1) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patients suffer from muscle weakness and atrophy, and in the severe cases, respiratory failure and death. Several therapeutic approaches show promise with human testing and three medications have been approved by the U.S. Food and Drug Administration (FDA) to date. Despite the shown promise of these approved therapies, there are some crucial limitations, one of the most important being the cost. The FDA-approved drugs are high-priced and are shortlisted among the most expensive treatments in the world. The price is still far beyond affordable and may serve as a burden for patients. The blooming of the biomedical data and advancement of computational approaches have opened new possibilities for SMA therapeutic development. 
  • 1.4K
  • 09 Oct 2021
Topic Review
Hybrid Rye Breeding and Production
Hybrid rye breeding leads to considerably higher grain yield and a higher revenue to the farmer. The basis of hybrid seed production is the CMS-inducing Pampa (P) cytoplasm derived from an Argentinean landrace and restorer-to-fertility (Rf) genes. Breeding is based on inbred line development and intensive testing for line per se performance and general combining ability (GCA). The finally selected inbred lines are used to compose a topcross hybrid with two genetically different seed parent lines (A-P, B-N) and a restorer synthetic composed of two S2 lines (SynRf). European restorer sources show low-to-moderate pollen-fertility levels. This results in higher susceptibility to ergot (Claviceps purpurea) because rye pollen and ergot spores are in strong competition for the unfertilized stigma. Rf genes from non-adapted Iranian primitive rye and old Argentinean cultivars proved to be most effective. The major Rf gene in these sources was localized on chromosome 4RL, which is also a hotspot of restoration in other Triticeae. Commercial hybrids with these Rf genes showed a similar low ergot infection when compared with population cultivars. The great future challenges of climate change, such as increased drought stress tolerance, improved lodging tolerance, as well as the increasing need for resistant varieties can effectively only be met by hybrid breeding.
  • 1.4K
  • 06 May 2022
Topic Review
DNA Mismatch Repair Gene Variants
DNA mismatch repair system (MMR) is an integral part of DNA damage response pathway (DDR), responsible for maintenance of genomic integrity. MMR preferably corrects frameshift mutations in microsatellites and mismatched nucleotides generated during DNA replication.
  • 1.4K
  • 26 Oct 2020
Topic Review
Structural Variation
Mutations in DNA can be limited to one or a few nucleotides, or encompass larger deletions, insertions, duplications, inversions and translocations that span long stretches of DNA or even full chromosomes. These so-called structural variations (SVs) can alter the gene copy number, modify open reading frames, change regulatory sequences or chromatin structure and thus result in major phenotypic changes. 
  • 1.4K
  • 10 May 2021
Topic Review
FBLN5 Gene
Fibulin 5: The FBLN5 gene provides instructions for making a protein called fibulin-5. 
  • 1.4K
  • 25 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.
  • 1.4K
  • 24 Dec 2020
Topic Review
Human Satellite DNA Families
Going back to the 1960s, the discovery and classification of three clearly distinguishable human genomic DNA fractions in CsSO4 gradients established the identity of the corresponding classical satellite DNAs I, II, and III. More precisely, a set of repetitive sequences with analogous buoyant densities was found to compose each gradient fraction. These DNA fractions presented a characteristic inter-sequence heterogeneity, which led to a new classification in 1987, as a prime family of simple repeats was identified for each fraction. The three families were described as satellite DNA families I, II, and III and were first reported to be present in all acrocentric chromosomes, as well as in chromosomes 3 and 4. Additionally, the centromeric alpha (α) satellite DNA family was also identified and described, soon becoming the most intensively studied human satDNA sequence. Later on, gamma (γ) and beta (β) satellites were likewise found among the diverse families of human satellite DNAs.
  • 1.4K
  • 13 May 2021
Topic Review
LYST Gene
Lysosomal trafficking regulator
  • 1.4K
  • 23 Dec 2020
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.
  • 1.4K
  • 23 Dec 2020
Topic Review
Peripartum Cardiomyopathy
Peripartum cardiomyopathy (PPCM) is a condition in which heart failure and left ventricular systolic dysfunction occur in the last month of pregnancy or within months following delivery.
  • 1.4K
  • 26 Jan 2021
Topic Review
LINE1 Retrotransposons
LINE-1 (L1) is a class of autonomous mobile genetic elements that form somatic mosaicisms in various tissues of the organism. The activity of L1 retrotransposons is strictly controlled by many factors in somatic and germ cells at all stages of ontogenesis. Alteration of L1 activity was noted in a number of diseases: in neuropsychiatric and autoimmune diseases, as well as in various forms of cancer.
  • 1.4K
  • 20 Oct 2021
Topic Review
Gene Disease Database
In bioinformatics, a Gene Disease Database is a systematized collection of data, typically structured to model aspects of reality, in a way to comprehend the underlying mechanisms of complex diseases, by understanding multiple composite interactions between phenotype-genotype relationships and gene-disease mechanisms. Gene Disease Databases integrate human gene-disease associations from various expert curated databases and text mining derived associations including Mendelian, complex and environmental diseases.
  • 1.4K
  • 21 Nov 2022
Topic Review
Y Chromosome Evolution and Functional Specialization
The Y chromosome is one of the sex chromosomes found in males of animals of different taxa, including insects and mammals. Among all chromosomes, the Y chromosome is characterized by a unique chromatin landscape undergoing dynamic evolutionary change. Being entirely heterochromatic, the Y chromosome as a rule preserves few functional genes, but is enriched in tandem repeats and transposons. Due to difficulties in the assembly of the highly repetitive Y chromosome sequence, deep analyses of Y chromosome evolution, structure, and functions are limited to a few species, one of them being Drosophila melanogaster. Here researchers survey comparative evolutionary history of the fly and human Y chromosomes, and functions of Y-linked piRNA clusters ensuring sex-specific piRNA silencing. 
  • 1.4K
  • 09 May 2022
Topic Review
Cytoplasmic Actin Mutations
Cytoplasmic actins are abundant molecules in non-muscle cells, including white blood cells. Two forms exist which are referred to as beta- or gamma-cytoplasmic actin encoded by ACTB and ACTG1, respectively. They form the building blocks of the dynamic actin polymers of the cytoskeleton that are involved in migration and motility processes of cells. Whereas mutations in cytoplasmic actins have been discovered in congenital diseases, their prevalence in cancer types has not been studied in detail. We show that within hematological cancer cytoplasmic actin mutations occur with higher frequency in two specific subtypes. Beta-actin mutations occur mainly in the subtype diffuse large B-cell lymphoma or DLBCL whereas gamma-actin mutations occur mainly in multiple myeloma. Mapping these mutations on the three dimensional structure reveals they map to regions of actin that are important in actin polymer formation and, for gamma-actin also for myosin interaction. Given their occurrence in these functionally important regions, their role as potential driver mutations or in disease progression merits further investigation.
  • 1.3K
  • 28 Oct 2020
Topic Review
Limb Development
The function of retinoic acid (RA) during limb development is still debated, as loss and gain of function studies led to opposite conclusions. With regard to limb initiation, genetic studies demonstrated that activation of FGF10 signaling is required for the emergence of limb buds from the trunk, with Tbx5 and RA signaling acting upstream in the forelimb field, whereas Tbx4 and Pitx1 act upstream in the hindlimb field. Early studies in chick embryos suggested that RA as well as Meis1 and Meis2 (Meis1/2) are required for subsequent proximodistal patterning of both forelimbs and hindlimbs, with RA diffusing from the trunk, functioning to activate Meis1/2 specifically in the proximal limb bud mesoderm. However, genetic loss of RA signaling does not result in loss of limb Meis1/2 expression and limb patterning is normal, although Meis1/2 expression is reduced in trunk somitic mesoderm. More recent studies demonstrated that global genetic loss of Meis1/2 results in a somite defect and failure of limb bud initiation. Other new studies reported that conditional genetic loss of Meis1/2 in the limb results in proximodistal patterning defects, and distal FGF8 signaling represses Meis1/2 to constrain its expression to the proximal limb.
  • 1.3K
  • 19 Jan 2021
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.
  • 1.3K
  • 19 Jan 2021
Topic Review
Papaya Flavour Profiling
A major challenge to the papaya industry is inconsistency in fruit quality and, in particular, flavour, which is a complex trait that comprises taste perception in the mouth (sweetness, acidity, or bitterness) and aroma produced by several volatile compounds. Current commercial varieties vary greatly in their taste, likely due to historical prioritised selection for fruit appearance as well as large environmental effects. Therefore, it is important to better understand the genetic and biochemical mechanisms and biosynthesis pathways underpinning preferable flavour in order to select and breed for better tasting new commercial papaya varieties. As an initial step, objectively measurable standards of the compound profiles that provide papaya’s taste and aroma, together with ‘mouth feel’, are required. This review presents an overview of the approaches to characterise the flavour profiles of papaya through sugar component determination, volatile compound detection, sensory panel testing, as well as genomics-based studies to identify the papaya flavour. 
  • 1.3K
  • 27 Sep 2021
Topic Review
The Genetic Architecture of SLD
Specific Learning Disorder (SLD) is a multifactorial, neurodevelopmental disorder which may involve persistent difficulties in reading (dyslexia), written expression and/or mathematics. Dyslexia is characterized by difficulties with speed and accuracy of word reading, deficient decoding abilities, and poor spelling. Several studies from different, but complementary, scientific disciplines have investigated possible causal/risk factors for SLD. Biological, neurological, hereditary, cognitive, linguistic-phonological, developmental and environmental factors have been incriminated. Despite worldwide agreement that SLD is highly heritable, its exact biological basis remains elusive.
  • 1.3K
  • 09 Jul 2021
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.
  • 1.3K
  • 24 Dec 2020
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