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Topic Review
Prion Protein Gene (PRNP) in Dogs
Transmissible spongiform encephalopathies (TSEs) have been reported in a wide range of species. However, TSE infection in natural cases has never been reported in dogs. Previous studies have reported that polymorphisms of the prion protein gene (PRNP) have a direct impact on the susceptibility of TSE. However, studies on polymorphisms of the canine PRNP gene are very rare in dogs. We examined the genotype, allele, and haplotype frequencies of canine PRNP in 204 dogs and analyzed linkage disequilibrium (LD). In addition, to evaluate the impact of nonsynonymous polymorphisms on prion protein (PrP), we carried out in silico analysis.
  • 1.7K
  • 18 Jun 2020
Topic Review
TRAPS
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever.
  • 1.7K
  • 23 Dec 2020
Topic Review
46,XX Testicular Disorder
46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.
  • 1.7K
  • 04 Jan 2021
Topic Review
TRNA Modifications in Microorganisms
Transfer RNAs (tRNAs) are essential adaptors that mediate translation of the genetic code. Modifications to tRNA are installed as post-transcriptional events at multiple locations on the tRNA structure by specialized tRNA-modifying enzymes and can occur at the 2’OH group of the ribose moiety as well as various positions of all A, C, G, and U bases. These modifications are diverse in their chemical structures and functional properties, and respond to nutritional and environmental factors.
  • 1.7K
  • 18 Aug 2020
Topic Review
Insulin-like Growth Factor 1 Signaling in Mammalian Hearing
Insulin-like growth factor 1 (IGF-1) is a peptide hormone belonging to the insulin family of proteins. Almost all of the biological effects of IGF-1 are mediated through binding to its high-affinity tyrosine kinase receptor (IGF1R), a transmembrane receptor belonging to the insulin receptor family. Factors, receptors and IGF-binding proteins form the IGF system, which has multiple roles in mammalian development, adult tissue homeostasis, and aging. Consequently, mutations in genes of the IGF system, including downstream intracellular targets, underlie multiple common pathologies and are associated with multiple rare human diseases. Here we review the contribution of the IGF system to our understanding of the molecular and genetic basis of human hearing loss by describing, (i) the expression patterns of the IGF system in the mammalian inner ear; (ii) downstream signaling of IGF-1 in the hearing organ; (iii) mouse mutations in the IGF system, including upstream regulators and downstream targets of IGF-1 that inform cochlear pathophysiology; and (iv) human mutations in these genes causing hearing loss.
  • 1.7K
  • 22 Oct 2021
Topic Review
L1 Syndrome
L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
  • 1.7K
  • 23 Dec 2020
Topic Review
DNA Polymerases
Recent studies on tumor genomes revealed that mutations in genes of replicative DNA polymerases cause a predisposition for cancer by increasing genome instability. The past 10 years have uncovered exciting details about the structure and function of replicative DNA polymerases and the replication fork organization. The principal idea of participation of different polymerases in specific transactions at the fork proposed by Morrison and coauthors 30 years ago and later named “division of labor,” remains standing, with an amendment of the broader role of polymerase δ in the replication of both the lagging and leading DNA strands. However, cancer-associated mutations predominantly affect the catalytic subunit of polymerase ε that participates in leading strand DNA synthesis. 
  • 1.7K
  • 14 Dec 2020
Topic Review
CRISPR-Cas9
CRISPR-Cas9 is a simple two-component system that allows researchers to accurately edit any sequence in the genome of an organism. This is achieved by the guide RNA, which recognizes the target sequence, and the CRISPR-associated endonuclease (Cas) that cuts the targeted sequence.
  • 1.7K
  • 16 Dec 2020
Topic Review
CHD8 and Autism Spectrum Disorder
Autism spectrum disorder (ASD) encompasses a spectrum of early-onset neurodevelopmental disorders with an estimated prevalence of ~1.5% in developed countries. Patients present early deficits in social interaction and communication, repetitive patterns of behavior, and restricted interests and activities.Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient therapies of patients.
  • 1.7K
  • 11 Oct 2021
Topic Review
Wastewater Based Epidemiology
Wastewater-Based epidemiology (WBE) is spreading of any disease or disorder caused by the chemicals or pathogens that come from waste materials such as urine, fecal materials, medical waste  or any solid or liquid waste product. The extraction, detection, analysis, and interpretation of chemical/biological compounds (biomarkers) excreted in the sewage system can eventually contribute to WBE. So wastewater analysis could be equivalent to community-based urine and fecal analysis that can subsequently give a reflection  of community health. Under pandemic situation with time limitations and restrict access to massive diagnostic, an alternative approach as a complementary tool to investigate virus circulation in the community is essential. In the situation of limited and time-consuming diagnostic tests, monitoring sewage systems could better estimate the spread of the virus and determine whether there are potential cases because wastewater surveillance can also account for those who contract mild or asymptomatic state.
  • 1.7K
  • 06 Sep 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.
  • 1.7K
  • 04 Jan 2021
Topic Review
Neurodegeneration with Brain Iron Accumulation
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. However, many patients remain without a genetic diagnosis, and therefore, there must be additional yet undiscovered NBIA genes. The genetic heterogeneity and the corresponding encoded proteins emphasize that several pathways are involved in NBIA syndromes: iron and lipid metabolism, mitochondrial dynamics, and autophagy. Moreover, for these forms as well as for many neurodegenerative conditions, mitochondrial dysfunction and oxidative stress are common mechanisms of disease.
  • 1.7K
  • 22 Sep 2021
Topic Review
Hypermethioninemia
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.
  • 1.7K
  • 23 Dec 2020
Topic Review
TGFB3 Gene
Transforming growth factor beta 3: The TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3).
  • 1.7K
  • 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. 
  • 1.6K
  • 11 Mar 2024
Topic Review
Chronic Atrial and Intestinal Dysrhythmia
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system.
  • 1.6K
  • 24 Dec 2020
Topic Review
MiRNA-Mediated Epigenetic Mechanisms
This entry discuss the role of ncRNAs as mediators of epigenetic pathways associated with carcinogenesis, and provides an overview on how deregulated microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) alter the expression of cancer-promoting genes.  Overall, miss regulated expression of ncRNAs alter cell cycle progression and apoptosis to increase proliferation, thereby facilitating cellular transformation into malignancies. The potential for using ncRNAs as targets for early prognosis and for developing cancer therapies is discussed.
  • 1.6K
  • 16 Dec 2020
Topic Review
Hypertension
Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery walls is blood pressure, which is measured in units called millimeters of mercury (mmHg). The top number in a blood pressure reading is the pressure when the heart pumps (systolic blood pressure), and the bottom number is the pressure between heart beats (diastolic blood pressure). In adults, a normal blood pressure measurement is about 120/80 mmHg. Blood pressure is considered high when the measurement is 130/80 mmHg or greater.
  • 1.6K
  • 16 Jan 2022
Topic Review
Application of Prime Editing to Liver Hereditary Diseases
Gene therapy holds tremendous potential in the treatment of inherited diseases. Unlike traditional medicines, which only treat the symptoms, gene therapy has the potential to cure the disease by addressing the root of the problem: genetic mutations. The discovery of CRISPR/Cas9 in 2012 paved the way for the development of those therapies. Improvement of this system led to the recent development of an outstanding technology called prime editing. This system can introduce targeted insertions, deletions, and all 12 possible base-to-base conversions in the human genome. Since the first publication on prime editing in 2019, groups all around the world have worked on this promising technology to develop a treatment for genetic diseases. Liver diseases are currently the most studied field for human gene therapy by prime editing. To date, prime editing has been attempted in preclinical studies for tyrosinemia type 1, alpha-1-antitrypsin deficiency, phenylketonuria, DGAT1-deficiency, bile salt export pump deficiency, liver cancer, and for a liver disease caused by a mutation in the DNMT1 gene.
  • 1.6K
  • 21 Feb 2023
Topic Review
Human Diseases with Mutations in the BRPF1-KAT6A/KAT6B Complex
The bromodomain and PHD finger–containing protein1 (BRPF1) is a member of family IV of the bromodomain-containing proteins that participate in the post-translational modification of histones. Patients with BRPF1 mutations often display intellectual disability or suffer from leukemia or medulloblastoma. BRPF1 is an activator and a scaffold protein of a multiunit complex, with other members being KAT6A/KAT6B, the inhibitor of growth 5 (ING5) or ING4 and MYST/Esa1-associated factor 6 (MEAF6). 
  • 1.6K
  • 09 Sep 2022
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