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Topic Review
Centromere Flexibility
Centromeres are the complex structures responsible for the proper segregation of chromosomes during cell division. Structural or functional alterations of the centromere cause aneuploidies and other chromosomal aberrations that can induce cell death with consequences on health and survival of the organism as a whole. Because of their essential function in the cell, centromeres have evolved high flexibility and mechanisms of tolerance to preserve their function following stress, whether it is originating from within or outside the cell.Despite the differences in DNA sequences, protein composition and centromere size, all of these diverse centromere structures promote efficient chromosome segregation, balancing genome stability and adaptability, and ensuring faithful genome inheritance at each cellular generation.
  • 1.2K
  • 03 Aug 2020
Topic Review
15q13.3 Microdeletion
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.  
  • 1.2K
  • 26 Aug 2021
Topic Review
Peptide Hormones
Small peptides are important signaling molecules that coordinate comprehensive intercellular communication in numerous aspects of developmental processes in plants.
  • 1.2K
  • 08 Jan 2021
Topic Review
Epigenetic Changes and Stress-Related Disorders
Stress is defined as a state of threatened or perceived as threatened homeostasis. Emerging evidence suggests that life-stress experiences can alter the epigenetic landscape and impact the function of genes involved in the regulation of stress response. More importantly, epigenetic changes induced by stressors persist over time, leading to increased susceptibility for a number of stress-related disorders.
  • 1.2K
  • 12 Jun 2021
Topic Review
Xanthomonas campestris
Xanthomonas campestris pv. campestris (Xcc) is a Gram-negative, aerobic, vascular, and motile bacterium with a single flagellum, which causes the disease identified as black rot in Brassica crops.
  • 1.2K
  • 30 Aug 2021
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.  
  • 1.2K
  • 27 Dec 2021
Topic Review
LTBL
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic disorders called leukodystrophies, which feature abnormalities of the nervous system's white matter. White matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates nerve fibers and promotes the rapid transmission of nerve impulses.
  • 1.2K
  • 04 Jan 2021
Topic Review
Yao Syndrome
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
  • 1.1K
  • 24 Dec 2020
Topic Review
LAMM Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth.
  • 1.1K
  • 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.
  • 1.1K
  • 05 Jan 2022
Topic Review
Vitamin D-dependent Rickets
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets).
  • 1.1K
  • 23 Dec 2020
Topic Review
Chronic Atrial and Intestinal Dysrhythmia
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system.
  • 1.1K
  • 24 Dec 2020
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.
  • 1.1K
  • 04 Jan 2021
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.
  • 1.1K
  • 27 Jul 2022
Topic Review
MBD5-Associated Neurodevelopmental Disorder
MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.
  • 1.1K
  • 24 Dec 2020
Topic Review
Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
  • 1.1K
  • 04 Feb 2021
Topic Review
EDA-ID
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.
  • 1.1K
  • 04 Jan 2021
Topic Review
Xia-Gibbs Syndrome
Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development.
  • 1.1K
  • 24 Dec 2020
Topic Review
Rippling Muscle Disease
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable).
  • 1.1K
  • 24 Dec 2020
Topic Review
Diet: DNA Methylation and Cancer
Cancer initiation and progression is an accumulation of genetic and epigenetic modifications. DNA methylation is a common epigenetic modification that regulates gene expression, and aberrant DNA methylation patterns are considered a hallmark of cancer. The human diet is a source of micronutrients, bioactive molecules, and mycotoxins that have the ability to alter DNA methylation patterns and are thus a contributing factor for both the prevention and onset of cancer. In this review, we summarize the literature on dietary micronutrients, bioactive compounds, and food-borne mycotoxins that affect DNA methylation patterns and identify their potential in the onset and treatment of cancer.
  • 1.1K
  • 09 Oct 2020
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