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Topic Review
MTM1 Gene
myotubularin 1
  • 631
  • 23 Dec 2020
Topic Review
ANTXR2 Gene
ANTXR cell adhesion molecule 2
  • 631
  • 24 Dec 2020
Topic Review
SMCHD1 Gene
structural maintenance of chromosomes flexible hinge domain containing 1
  • 631
  • 24 Dec 2020
Topic Review
Ménière Disease
Ménière disease is a disorder of the inner ear that affects balance and hearing. This condition is characterized by sudden episodes of extreme dizziness (vertigo), a roaring sound in the ears (tinnitus), a feeling of pressure or fullness in the ears, and fluctuations in hearing. Episodes are often associated with nausea and vomiting, and they can severely disrupt activities of daily living.
  • 630
  • 23 Dec 2020
Topic Review
Kuskokwim Syndrome
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints.
  • 630
  • 23 Dec 2020
Topic Review
NSM for BRCA-mutated patients
Growing numbers of asymptomatic women who become aware of carrying a breast cancer gene (BRCA) mutation are choosing to undergo risk-reducing bilateral mastectomies with immediate breast reconstruction. We reviewed the literature with the aim of assessing the oncological safety of nipple-sparing mastectomy (NSM) as a risk-reduction procedure in BRCA-mutated patients.
  • 630
  • 19 Feb 2021
Topic Review
Hyperkalemic Periodic Paralysis
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
  • 629
  • 23 Dec 2020
Topic Review
Diversity Arrays Technology
Diversity Arrays Technology (DArT) is a high-throughput genetic marker technique that can detect allelic variations to provides comprehensive genome coverage without any DNA sequence information for genotyping and other genetic analysis. The general steps involve reducing the complexity of the genomic DNA with specific restriction enzymes, choosing diverse fragments to serve as representations for the parent genomes, amplify via polymerase chain reaction (PCR), insert fragments into a vector to be placed as probes within a microarray, then fluorescent targets from a reference sequence will be allowed to hybridize with probes and put through an imaging system. The objective is to identify and quantify various forms of DNA polymorphism within genomic DNA of sampled species. First reported in 2001 by Damian Jaccoud, Andrzej Kilian, David Feinstein, and Kaiman Peng, DArT prioritized significant advantages over other traditional primer-based methods like the ability to analyze large amounts of various samples from a low amount of initial DNA. It also afforded low costs and faster results compared to related solid state DNA arrays that detected Single Nucleotide Polymorphisms (SNPs). Since its inception, the technology has been a major instrument in the analysis of polyploid plants as well as in the construction of physical and genetic map to understand related on species based on similarities and allelic variances among their genomes.
  • 629
  • 14 Nov 2022
Topic Review
COG5-Congenital Disorder of Glycosylation
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 628
  • 24 Dec 2020
Topic Review
CUBN Gene
Cubilin: The CUBN gene provides instructions for making a protein called cubilin. 
  • 627
  • 23 Dec 2020
Topic Review
Leukocyte Adhesion Deficiency Type 1
Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 627
  • 24 Dec 2020
Topic Review
RFXAP Gene
regulatory factor X associated protein
  • 627
  • 24 Dec 2020
Topic Review
Genetics in Maturity-Onset Diabetes of the Young
Diabetes is a heterogeneous group of metabolic disorders, defined by persistent hyperglycemia due to both defects in insulin secretion and action, culminating in abnormal glucose metabolism with lifelong micro- and macro-vascular complications that develop from chronic hyperglycemia. It constitutes a significant cause of social, psychological, and financial burdens, along with an increased overall risk of premature death. Diabetes with early-onset hyperglycemia diagnosed in a patient under 25 years old, with an autosomal dominant transmission with at least three affected generations, a partially conserved pancreatic β-cell function, and the absence of autoantibodies are the characteristics of maturity-onset diabetes of the young (MODY). This subtype of genetically transmitted diabetes is suspected to be the most frequent type of monogenic diabetes, with a prevalence of 21–45 in 1,000,000 children and 100 patients in 1,000,000 individuals. Fourteen subtypes of MODY were identified and are currently acknowledged. 
  • 627
  • 23 Nov 2022
Topic Review
Microbiota-Induced Epigenetic Alterations in Depressive Disorders
Major depressive disorder (MDD) is a complex disorder and a leading cause of disability in 280 million people worldwide. Many environmental factors, such as microbes, drugs, and diet, are involved in the pathogenesis of depressive disorders.
  • 627
  • 09 Jan 2024
Topic Review
Ankyloblepharon-ectodermal Defects-cleft lip/palate Syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.
  • 626
  • 24 Dec 2020
Topic Review
CART Expression and Gastric Ulcerations
Cocaine- and amphetamine-regulated transcript (CART) is a peptide suggested to play a role in gastrointestinal tract tissue reaction to pathology. Gastric ulceration is a common disorder affecting huge number of people, and additionally, it contributes to the loss of pig livestock production. Importantly, ulceration as a focal disruption affecting deeper layers of the stomach wall differs from other gastrointestinal pathologies and should be studied individually. The pig’s gastrointestinal tract, due to its many similarities to the human counterpart, provides a valuable experimental model for studying digestive system pathologies. To date, the role of CART in gastric ulceration and the expression of the gene encoding CART in porcine gastrointestinal tube are completely unknown. 
  • 626
  • 29 Jul 2021
Topic Review
N-acetylglutamate Synthase Deficiency
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.
  • 625
  • 23 Dec 2020
Topic Review
ZAP70 Gene
Zeta chain of T cell receptor associated protein kinase 70
  • 625
  • 24 Dec 2020
Topic Review
Lipoid Proteinosis
Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas.
  • 623
  • 24 Dec 2020
Topic Review
GUCY2D Gene
Guanylate cyclase 2D, retinal
  • 622
  • 22 Dec 2020
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