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Topic Review
GJB6 Gene
Gap junction protein beta 6
  • 940
  • 25 Dec 2020
Topic Review
Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
  • 939
  • 23 Dec 2020
Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 939
  • 24 Dec 2020
Topic Review
Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
  • 938
  • 25 Dec 2020
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 938
  • 25 Dec 2020
Topic Review
Regeneration Mechanisms in Holothurians
Holothurians, or sea cucumbers, belong to the phylum Echinodermata. They show good regenerative abilities. This entry provides an analysis of available data on the molecular aspects of regeneration mechanisms in holothurians. The genes and signaling pathways activated during the asexual reproduction and the formation of the anterior and posterior parts of the body, as well as the molecular mechanisms that provide regeneration of the nervous and digestive systems, are considered here. Damage causes a strong stress response, the signs of which are recorded even at late regeneration stages. In holothurian tissues, the concentrations of reactive oxygen species and antioxidant enzymes increase. Furthermore, the cellular and humoral components of the immune system are activated. Extracellular matrix remodeling and Wnt signaling play a major role in the regeneration in holothurians. All available morphological and molecular data show that the dedifferentiation of specialized cells in the remnant of the organ and the epithelial morphogenesis constitute the basis of regeneration in holothurians. 
  • 938
  • 02 Mar 2021
Topic Review
1q21.1 microduplication
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
  • 937
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type VI
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.
  • 937
  • 23 Dec 2020
Topic Review
Intestinal Pseudo-Obstruction
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.
  • 937
  • 23 Dec 2020
Topic Review
Abetalipoproteinemia
Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K). The signs and symptoms of this condition primarily affect the gastrointestinal system, eyes, nervous system, and blood.
  • 937
  • 23 Dec 2020
Topic Review
TAT Gene
Tyrosine aminotransferase: The TAT gene provides instructions for making a liver enzyme called tyrosine aminotransferase. 
  • 937
  • 24 Dec 2020
Topic Review
FLT3
Fms related tyrosine kinase 3
  • 937
  • 25 Dec 2020
Topic Review
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
  • 937
  • 25 Dec 2020
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 937
  • 25 Dec 2020
Topic Review
GLB1 Gene
Galactosidase beta 1
  • 937
  • 25 Dec 2020
Topic Review
Hydrodynamics-Based Transplacental Delivery of CRISPR/Cas9
We previously demonstrated that transplacental gene delivery (TPGD) method combined with CRISPR/Cas9 system can manipulate fetal genome in situ. Recently, we examined whether the endogenous gene (myosin heavy-chain α, MHCa) can be genome-edited by TPGD in the absence of a gene delivery reagent with potential fetal toxicity. For this, we employed a hydrodynamics-based gene delivery (HGD) system with the aim of ensuring biosafety. We also investigated which embryonic stages are suitable for the induction of genome editing in fetuses. As the results, it was indicated that the HGD-based TPGD of a genome editing vector enables to manipulate the fetal genomes.
  • 936
  • 29 Oct 2020
Topic Review
Giant Congenital Melanocytic Nevus
Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth.
  • 936
  • 23 Dec 2020
Topic Review
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.
  • 936
  • 24 Dec 2020
Topic Review
Maffucci Syndrome
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
  • 935
  • 23 Dec 2020
Topic Review
Amelogenesis Imperfecta
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.
  • 935
  • 24 Dec 2020
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