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Topic Review
ALSP
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP.
  • 1.4K
  • 04 Jan 2021
Topic Review
Gyrate Atrophy
Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.
  • 1.4K
  • 04 Jan 2021
Topic Review
MDA5 Deficiency
MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy.
  • 1.4K
  • 24 Dec 2020
Topic Review
Gorlin-Chaudhry-Moss Syndrome
Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.
  • 1.4K
  • 23 Dec 2020
Topic Review
Schindler Disease
Schindler disease is an inherited disorder that primarily causes neurological problems.
  • 1.4K
  • 24 Dec 2020
Topic Review
Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFS) are a group of cancer prone genetic diseases characterized by hypocellular bone marrow with impairment in one or more hematopoietic lineages. The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. Unofrtunately, no pharmacological therapies have been developed for IBMFS so far and bone marrow hematopoietic stem cell transplant remains the unique option to correct bone marrow failure and prevent myeloid neoplasia.
  • 1.4K
  • 19 Nov 2020
Topic Review
Essential Pentosuria
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine.
  • 1.4K
  • 25 Dec 2020
Topic Review
Relationship of Human Endogenous Retroviruses and Human Cancers
Human endogenous retroviruses (HERVs), once external pathogens, now occupy more than 8% of the human genome and represent the merge of genomic and external factors leading to the development of cancers. Certain HERVs have perfectly assimilated into the cellular environment preventing oncogenesis, while others maintain their pathogenic potential and remain undercover until a time of cellular dysregulation. In particular, HERV genes such as gag, env, pol, np9, and rec have been discovered to carry central roles in immune regulation, checkpoint blockade, cell differentiation, cell fusion, proliferation, metastasis, and cell transformation in tumor environments. In addition, HERV long terminal repeat (LTR) regions have been shown to be involved in transcriptional regulation, creation of fusion proteins, expression of long non-coding RNAs (lncRNAs), and promotion of genome instability through recombination influencing oncogenesis.
  • 1.4K
  • 27 Mar 2023
Topic Review
Dicer-Type Ribonucleases
Ribonuclease Dicer belongs to the family of RNase III endoribonucleases, the enzymes that specifically hydrolyze phosphodiester bonds found in double-stranded regions of RNAs. Dicer enzymes are mostly known for their essential role in the biogenesis of small regulatory RNAs. A typical Dicer-type RNase consists of a helicase domain, a domain of unknown function (DUF283), a PAZ (Piwi-Argonaute-Zwille) domain, two RNase III domains, and a double-stranded RNA binding domain; however, the domain composition of Dicers varies among species. Dicer and its homologues developed only in eukaryotes; nevertheless, the two enzymatic domains of Dicer, helicase and RNase III, display high sequence similarity to their prokaryotic orthologs. Evolutionary studies indicate that a combination of the helicase and RNase III domains in a single protein is a eukaryotic signature and is supposed to be one of the critical events that triggered the consolidation of the eukaryotic RNA interference.
  • 1.4K
  • 22 Feb 2021
Topic Review
Single-Cell RNA Sequencing
Single-cell RNA sequencing (scRNA-seq) technology is a powerful, rapidly developing tool for characterizing individual cells and elucidating biological mechanisms at the cellular level. Cardiovascular disease is one of the major causes of death worldwide and its precise pathology remains unclear. scRNA-seq has provided many novel insights into both healthy and pathological hearts. In this review, we summarize the various scRNA-seq platforms and describe the molecular mechanisms of cardiovascular development and disease revealed by scRNA-seq analysis. We then describe the latest technological advances in scRNA-seq. Finally, we discuss how to translate basic research into clinical medicine using scRNA-seq technology.
  • 1.4K
  • 19 Nov 2020
Topic Review
FOXP3 Gene
Forkhead box P3
  • 1.4K
  • 25 Dec 2020
Topic Review
DUF1220
DUF1220 is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and may be involved in human brain evolution. The protein domain has also been liked to several neurogenetic disorders such as Schizophrenia and increased severity of autism. The DUF1220 domain name has recently been changed to the Olduvai domain based on data obtained since initial discovery of the domain. The copy number of DUF1220 domains increases generally as a function of a species evolutionary proximity to humans. The increase in the number of copies that are present in connection with DUF1220 also seem to have a direct correlation with several phenotypes of the brain including the increase in brain size as seen through evolution. DUF1220 copy number is the highest in humans (~289, with some person-to-person variations) and shows the largest HLS increase in copy number (an additional 160 copies) of any protein coding region in the human genome. DUF1220 copy number is reduced in African great apes (estimated 125 copies in chimpanzees), further reduced in orangutan (92) and Old World monkeys (35), single- or low-copy in non-primate mammals and absent in non-mammals. DUF1220 domains are approximately 65 amino acids in length and are encoded by a two-exon doublet. In the human genome DUF1220 sequences are located primarily on chromosome 1 in region 1q21.1-q21.2, with several copies also found at 1p36, 1p13.3, and 1p12. Sequences encoding DUF1220 domains show rhythmicity, resonance and signs of positive selection, especially in primates, and are expressed in several human tissues including brain, where their expression is restricted to neurons.
  • 1.4K
  • 31 Oct 2022
Topic Review
GALNT14
Members in the polypeptide N-acetylgalactosaminyltransferase (GALNT) family function as the initiating enzymes to catalyze mucin-type O-glycosylation of proteins, of which dysregulated expression can alter cancer cell behaviors such as de novo occurrence, proliferation, migration, metastasis and drug resistance. One of its members, GALNT14, is aberrantly expressed in multiple cancers and involved in a variety of biological functions. Moreover, the single nucleotide polymorphisms (SNPs) of GALNT14-rs9679162 has been shown to predict the therapeutic outcomes in patients with hepatocellular carcinoma as well as several other different types of gastrointestinal cancers. 
  • 1.4K
  • 29 Oct 2020
Topic Review
TGFB2 Gene
transforming growth factor beta 2
  • 1.4K
  • 25 Dec 2020
Topic Review
Nucleolar and Ribosomal Dysfunction
Ageing is a complex and unavoidable process that can be defined as the functional decline after a period of maturity. In this respect, maturity is understood as the endpoint of development and the condition of maximal functional performance capability.  The nucleolus organizes around the sites of transcription by RNA polymerase I (RNA Pol I). rDNA transcription by this enzyme is the key step of ribosome biogenesis and most of the assembly and maturation processes of the ribosome occur co-transcriptionally. Therefore, disturbances in rRNA transcription and processing translate to ribosomal malfunction. Nucleolar malfunction has recently been described in the classical progeria of childhood, Hutchinson–Gilford syndrome (HGPS), which is characterized by severe signs of premature aging, including atherosclerosis, alopecia, and osteoporosis. A deregulated ribosomal biogenesis with enlarged nucleoli is not only characteristic for HGPS patients, but it is also found in the fibroblasts of “normal” aging individuals. Cockayne syndrome (CS) is also characterized by signs of premature aging, including the loss of subcutaneous fat, alopecia, and cataracts. It has been shown that all genes in which a mutation causes CS, are involved in rDNA transcription by RNA Pol I. 
  • 1.4K
  • 27 Apr 2022
Topic Review
TERF2
Telomeric repeat-binding factor 2 is a protein that is present at telomeres throughout the cell cycle. It is also known as TERF2, TRF2, and TRBF2, and is encoded in humans by the TERF2 gene. It is a component of the shelterin nucleoprotein complex and a second negative regulator of telomere length, playing a key role in the protective activity of telomeres. It was first reported in 1997 in the lab of Titia de Lange, where a DNA sequence similar, but not identical, to TERF1 was discovered, with respect to the Myb-domain. De Lange isolated the new Myb-containing protein sequence and called it TERF2.
  • 1.4K
  • 03 Nov 2022
Topic Review
PIK3CA Gene
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • 1.4K
  • 25 Dec 2020
Topic Review
Hypoxia-inducible Factors
Hypoxia-inducible factors (HIFs) are transcription factors that respond to decreases in available oxygen in the cellular environment, or hypoxia.
  • 1.4K
  • 19 Oct 2022
Topic Review
Epigenetics and Myotonic Dystrophy Type 1
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability observed in DM1.
  • 1.4K
  • 07 Apr 2022
Topic Review
CfDNA Sequencing
Cell free circulating DNA (cfDNA) refers to DNA fragments present outside of cells in body fluids such as plasma, urine, and cerebrospinal fluid (CSF). CfDNA was first identified in 1948 from plasma of healthy individuals. Afterward, studies showed that the quantity of this cfDNA in the blood was increased under pathological conditions such as auto-immune diseases but also cancers.
  • 1.4K
  • 06 Jul 2021
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