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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).
  • 1.5K
  • 23 Dec 2020
Topic Review
Cyclic Vomiting Syndrome
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, vomiting, and tiredness (lethargy). This condition is diagnosed most often in young children, but it can affect people of any age.
  • 1.5K
  • 24 Dec 2020
Topic Review
Type 2 Diabetes
Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. Insulin is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. When blood sugar levels are high (such as after a meal), the pancreas releases insulin to move the excess glucose into cells, which reduces the amount of glucose in the blood.
  • 1.5K
  • 07 Apr 2023
Topic Review
DOORS Syndrome
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
  • 1.5K
  • 24 Dec 2020
Topic Review
Fusion Genes and RNAs
Fusion RNAs are a hallmark of some cancers. They result either from chromosomal rearrangements or from splicing mechanisms that are non-chromosomal rearrangements.
  • 1.5K
  • 19 Apr 2021
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.
  • 1.5K
  • 03 Aug 2020
Topic Review
Galactosemia
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.
  • 1.5K
  • 23 Dec 2020
Topic Review
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
  • 1.5K
  • 24 Dec 2020
Topic Review
COL1A1 Gene
collagen type I alpha 1 chain
  • 1.5K
  • 24 Dec 2020
Topic Review
Chromosome 22
Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs.
  • 1.5K
  • 04 Jan 2021
Topic Review
MCPIP1
MCPIP1 (also known as regnase-1) is encoded by the ZC3H12A gene and is composed of 599 amino acids that encode a 66-kDa protein. MCPIP1 is a potent anti-inflammatory protein, and plays many roles within the regulation of the immune response.
  • 1.5K
  • 22 Oct 2020
Topic Review
FTO Intronic SNP
Browning of white adipose tissue shifts adipocytes from energy storage white to energy expenditure beige types. The balance between the two adipocyte populations in white adipose tissue is highly determined by noncoding variants of the Fat mass and obesity-associated (FTO) locus which has the strongest association with obesity. The rs1421085 FTO risk allele results in a loss of ARID5B repression of IRX3 and IRX5 which promotes excess white adipocyte formation. Recent studies have revealed the presence of brown adipose tissues at several anatomical sites in humans including the deep-neck (DN).  We found that the characteristic gene expression profile and associated pathways of DN brown adipocytes were determined by partially overlapping effects of tissue site specific commitments of the stem cells, PPARγ stimulation and the FTO status of donors. The presence of FTO rs1421085 risk alleles had a strong influence, manifested during differentiation, on browning resulting in compromised expression of metabolic and mitochondrial genes as well as pathways which are decisive in thermogenesis.
  • 1.5K
  • 30 Oct 2020
Topic Review
Sphingolipidoses
Sphingolipidoses are inborn errors of metabolism due to the pathogenic mutation of genes that encode for lysosomal enzymes, transporters, or enzyme cofactors that participate in the sphingolipid catabolism. They represent a subgroup of lysosomal storage diseases characterized by the gradual lysosomal accumulation of the substrate(s) of the defective proteins.
  • 1.5K
  • 30 Mar 2023
Topic Review
Breast Cancer Subtypes
The purpose of this study was to classify breast cancer subtypes by using deep neural networks based on multi-omics data from TCGA. The classification results show that, by using the proposed model, integrating multi-omics datasets can improve the performance as compared to using single omics data for classifying breast cancer subtypes.
  • 1.5K
  • 09 Feb 2021
Topic Review
FENIB
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy).
  • 1.5K
  • 04 Jan 2021
Topic Review
White-Sutton Syndrome
White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.
  • 1.5K
  • 23 Dec 2020
Topic Review
Ras Subfamily
Ras is a family of related proteins which is expressed in all animal cell lineages and organs. All Ras protein family members belong to a class of protein called small GTPase, and are involved in transmitting signals within cells (cellular signal transduction). Ras is the prototypical member of the Ras superfamily of proteins, which are all related in 3D structure and regulate diverse cell behaviours. When Ras is 'switched on' by incoming signals, it subsequently switches on other proteins, which ultimately turn on genes involved in cell growth, differentiation and survival. Mutations in ras genes can lead to the production of permanently activated Ras proteins. As a result, this can cause unintended and overactive signaling inside the cell, even in the absence of incoming signals. Because these signals result in cell growth and division, overactive Ras signaling can ultimately lead to cancer. The 3 Ras genes in humans (HRas, KRas, and NRas) are the most common oncogenes in human cancer; mutations that permanently activate Ras are found in 20% to 25% of all human tumors and up to 90% in certain types of cancer (e.g., pancreatic cancer). For this reason, Ras inhibitors are being studied as a treatment for cancer and other diseases with Ras overexpression.
  • 1.5K
  • 04 Nov 2022
Topic Review
Gigantea in Flower Development
ANTEA (GI) is a gene involved in multiple biological functions, which have been analysed and are partially conserved in a series of mono- and dicotyledonous plant species. The identified biological functions include control over the circadian rhythm, light signalling, cold tolerance, hormone signalling and photoperiodic flowering. The latter function is a central role of GI, as it involves a multitude of pathways, both dependent and independent of the gene CONSTANS(CO), as well as on the basis of interaction with miRNA. The complexity of the gene function of GI increases due to the existence of paralogs showing changes in genome structure as well as incidences of sub- and neofunctionalization. We present an updated report of the biological function of GI, integrating late insights into its role in floral initiation, flower development and volatile flower production.
  • 1.5K
  • 02 Nov 2020
Topic Review
TP53 Gene
Tumor protein p53: The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53).
  • 1.5K
  • 25 Dec 2020
Topic Review
Functions of snoRNAs
Small nucleolar RNAs (snoRNAs) constitute a class of intron-derived non-coding RNAs ranging from 60 to 300 nucleotides. snoRNAs canonically localize in the nucleolus where they play pivotal roles in pre-ribosomal RNA processing, guiding RNA modifications. Based on the type of modification they facilitate, namely methylation or pseudouridylation, they are classified into two main families—box C/D and box H/ACA snoRNAs. Investigations have revealed the unconventional synthesis and biogenesis strategies of snoRNAs, indicating more profound roles in pathogenesis than previously envisioned. 
  • 1.5K
  • 11 Mar 2024
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