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Topic Review
Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.
  • 1.2K
  • 24 Dec 2020
Topic Review
FGB Gene
Fibrinogen beta chain: The FGB gene provides instructions for making a protein called the fibrinogen B beta (Bβ) chain, one piece (subunit) of the fibrinogen protein. 
  • 1.2K
  • 25 Dec 2020
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
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
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
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
Troyer Syndrome
Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.2K
  • 23 Dec 2020
Topic Review
EWSR1 Gene
EWS RNA binding protein 1
  • 1.2K
  • 24 Dec 2020
Topic Review
GHR Gene
Growth hormone receptor
  • 1.2K
  • 25 Dec 2020
Topic Review
Delta133p53 Isoforms of Human TP53
The TP53 gene is a critical tumor suppressor and key determinant of cell fate which regulates numerous cellular functions including DNA repair, cell cycle arrest, cellular senescence, apoptosis, autophagy and metabolism. The delta133p53 isoforms are critical regulators of these biological processes in human physiology and diseases such as cancer.  
  • 1.2K
  • 28 Sep 2021
Topic Review
Hypoxia-Induced Non-Coding RNAs
Non-coding RNA  induced by low oxygen partial pressure play a crucial role in cancer progression and therapeutic response.
  • 1.2K
  • 19 Apr 2021
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
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
Next-Generation Sequencing in Neurogenetic Diseases
A wide variety of neurogenetic diseases have been discovered owing to the development of next-generation sequencing (NGS) technology. The clinical application of NGS significantly accelerated the discovery of disease-causing genes and promoted the understanding of molecular genetic mechanisms associated with hereditary diseases. 
  • 1.2K
  • 18 Jun 2021
Topic Review
RBM10−a New Regulator of p53
The tumor suppressor p53 acts as a transcription factor that regulates the expression of a number of genes responsible for DNA repair, cell cycle arrest, metabolism, cell migration, angiogenesis, ferroptosis, senescence, and apoptosis. It is the most commonly silenced or mutated gene in cancer, as approximately 50% of all types of human cancers harbor TP53 mutations. Activation of p53 is detrimental to normal cells, thus it is tightly regulated via multiple mechanisms. One of the recently identified regulators of p53 is RNA-binding motif protein 10 (RBM10). RBM10 is an RNA-binding protein frequently deleted or mutated in cancer cells. Its loss of function results in various deformities, such as cleft palate and malformation of the heart, and diseases such as lung adenocarcinoma. In addition, RBM10 mutations are frequently observed in lung adenocarcinomas, colorectal carcinomas, and pancreatic ductal adenocarcinomas. RBM10 plays a regulatory role in alternative splicing. Several recent studies not only linked this splicing regulation of RBM10 to cancer development, but also bridged RBM10′s anticancer function to the p53 pathway.
  • 1.2K
  • 09 Oct 2020
Topic Review
NRAS Gene
NRAS proto-oncogene, GTPase
  • 1.2K
  • 24 Dec 2020
Topic Review
Chromosome 17
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 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 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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