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Topic Review
NRAS Gene
NRAS proto-oncogene, GTPase
  • 1.2K
  • 24 Dec 2020
Topic Review
Ocular Gene Delivery
The eye is at the forefront of developing therapies for genetic diseases. With the FDA approval of the first gene-therapy drug for a form of congenital blindness, numerous studies have been initiated to develop gene therapies for other forms of eye diseases. These examinations have revealed new information about the benefits as well as restrictions to using drug-delivery routes to the different parts of the eye. In this entry, authors will discuss the ocular delivery landscape that is currently being investigated and provide insights into their advantages and disadvantages. Efficient delivery routes and vehicle are crucial for an effective, safer, and longer-lasting therapy.
  • 1.2K
  • 13 Aug 2021
Topic Review
Environmental DNA/RNA and Exposomics
Records of eDNA/eRNA exposome may reflect the early appearance, persistence, and presence of biotic and/or abiotic-exposure-mediated modifications in these nucleic acid molecules. Functional genome- and epigenome-wide mapping of eDNA offer great promise to help elucidate the human exposome. Assessment of longitudinal exposure to physical, biological, and chemical agents present in the environment through eDNA/eRNA may enable the building of an integrative causal dynamic stochastic model to estimate environmental causes of human health deficits. Development and validation of monitoring of eDNA/eRNA exposome should seriously be considered to introduce into safety and risk assessment and as surrogates of chronic exposure to environmental stressors.
  • 1.2K
  • 17 Jul 2020
Topic Review
Snyder-Robinson Syndrome
Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.
  • 1.2K
  • 23 Dec 2020
Topic Review
Distal 18q Deletion Syndrome
Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece occurs near one end of the chromosome. Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals.
  • 1.2K
  • 24 Dec 2020
Topic Review
Familial Isolated Hyperparathyroidism
Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism).
  • 1.2K
  • 25 Dec 2020
Topic Review
Gene annotation for 'Flaviviridae' genomes
Responding to the ongoing and severe public health threat of viruses of the family Flaviviridae, including dengue, hepatitis C, West Nile, yellow fever, and Zika, demands a greater understanding of how these viruses emerge and spread. Updated phylogenies are central to this understanding. Most cladograms of Flaviviridae focus on specific lineages and ignore outgroups, thus hampering the efficacy of the analysis to test ingroup monophyly and relationships. This is due to the lack of annotated Flaviviridae genomes, which has gene content variation among genera. This variation makes analysis without partitioning difficult. Therefore, we developed an annotation pipeline for the genera of Flaviviridae (Flavirirus, Hepacivirus, Pegivirus, and Pestivirus), named “Fast Loci Annotation of Viruses” (FLAVi: flavi-web.com), that combines ab initio and homology-based strategies. FLAVi recovered 100% of the genes in Flavivirus and Hepacivirus genomes. In Pegivirus and Pestivirus, annotation efficiency was 100% except for one partition each. There were no false positives. The combined phylogenetic analysis of multiple genes made possible by annotation has clear impacts over the tree topology compared to phylogenies that we inferred without outgroups or data partitioning. The final tree is largely congruent with previous hypotheses and adds evidence supporting the close phylogenetic relationship between dengue and Zika.
  • 1.2K
  • 27 Oct 2020
Topic Review
TAZ Gene
Tafazzin: The TAZ gene provides instructions for producing a protein called tafazzin.
  • 1.2K
  • 24 Dec 2020
Topic Review
Chromosome 2
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 2, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
GEFS+
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity.
  • 1.2K
  • 23 Dec 2020
Topic Review
Adoption in Archaeological Human Remains
Adoption appears in different moments of past societies. When establishing a “family” nucleus burial place, it is must be considered certain social behaviors, such as burials under the houses, collective burials, or laying bodies in specific positions.
  • 1.2K
  • 07 Jun 2023
Topic Review
CLN3 Gene
CLN3, battenin
  • 1.2K
  • 24 Dec 2020
Topic Review
PEX1 Gene
peroxisomal biogenesis factor 1
  • 1.2K
  • 25 Dec 2020
Topic Review
VDR Gene
Vitamin D receptor
  • 1.2K
  • 04 Jan 2021
Topic Review
Gordon Holmes Syndrome
Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems.
  • 1.2K
  • 23 Dec 2020
Topic Review
Proopiomelanocortin Deficiency
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.
  • 1.2K
  • 24 Dec 2020
Topic Review
Long Non-Coding RNA FENDRR
The FOXF1 Adjacent Noncoding Developmental Regulatory RNA (Fendrr) plays an important role in the control of gene expression in mammals. It is transcribed in the opposite direction to the neighboring Foxf1 gene with which it shares a region containing promoters. In humans, FENDRR is located on chromosome 16q24.1, and is positively regulated both by the FOXF1 distant lung-specific cis-acting enhancer and by trans-acting FOXF1. Fendrr has been shown to function as a competing endogenous RNA, sponging microRNAs and protein factors that control stability of mRNAs, and as an epigenetic modifier of chromatin structure around gene promoters and other regulatory sites, targeting them with histone methyltrasferase complexes. In mice, Fendrr is essential for development of the heart, lungs, and gastrointestinal system; its homozygous loss causes embryonic or perinatal lethality. Importantly, deregulation of FENDRR expression has been causatively linked also to tumorigenesis, resistance to chemotherapy, fibrosis, and inflammatory dis-eases.
  • 1.2K
  • 20 Feb 2021
Topic Review
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Tubular Aggregate Myopathy
Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement.
  • 1.2K
  • 23 Dec 2020
Topic Review
Chromosome 11
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 11, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 04 Jan 2021
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