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Topic Review
Hypermanganesemia with Dystonia
Hypermanganesemia with dystonia is an inherited disorder in which excessive amounts of the element manganese accumulate in the body (hypermanganesemia).
  • 751
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.
  • 751
  • 23 Dec 2020
Topic Review
TMEM70 Gene
Transmembrane protein 70: The TMEM70 gene provides instructions for making a protein called transmembrane protein 70.
  • 751
  • 25 Dec 2020
Topic Review
Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by dominant-negative inhibition or haploinsufficiency.
  • 751
  • 12 Oct 2022
Topic Review
Next-Generation Sequencing in Bone Genetic Diseases
The development of next-generation sequencing (NGS) has dramatically increased the speed and volume of genetic analysis. Furthermore, the range of applications of NGS is rapidly expanding to include genome, epigenome (such as DNA methylation), metagenome, and transcriptome analyses (such as RNA sequencing and single-cell RNA sequencing). NGS enables genetic research by offering various sequencing methods as well as combinations of methods. Bone tissue is the most important unit supporting the body and is a reservoir of calcium and phosphate ions, which are important for physical activity.
  • 751
  • 11 Sep 2023
Topic Review
MED12 Gene
mediator complex subunit 12
  • 750
  • 22 Dec 2020
Topic Review
3-methylglutaconyl-CoA Hydratase Deficiency
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.
  • 750
  • 23 Dec 2020
Topic Review
DYNC2H1 Gene
Dynein Cytoplasmic 2 Heavy Chain 1
  • 750
  • 24 Dec 2020
Topic Review
Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).
  • 750
  • 19 Apr 2021
Topic Review
SPECC1L Gene
sperm antigen with calponin homology and coiled-coil domains 1 like
  • 750
  • 24 Dec 2020
Topic Review
Angiotensin-Converting Enzyme 2 (ACE2)
Angiotensin-converting enzyme 2 (ACE2) is a transmembrane glycoprotein discovered in the year 2000 [1,2]. ACE2 gene is located on the X chromosome (cytogenetic location: Xp22.2) and consists of 18 exons that encode for protein of 805 amino acids. ACE2 is a type 1 integral membrane glycoprotein with two domains, the amino-terminal catalytic domain and carboxy-terminal transmembrane domain. The active domain of ACE2 is exposed to the extracellular surface, facilitating the metabolism of circulating peptides. ACE2 is constitutively expressed by epithelial cells of the lungs—more precisely, on the surface of type I and type II alveolar epithelial cells . ACE2 is also expressed in the vascular system—endothelial cells, migratory angiogenic cells, and vascular smooth muscle cells. In the heart, ACE2 is expressed in the cardiomyocytes, cardiac fibroblasts, coronary vascular endothelium and epicardial adipose tissue. In the kidneys, ACE2 was detected in glomerular endothelial cells, podocytes and proximal tubule epithelial cells. ACE2 is also expressed and functional in the liver, enterocytes of the intestines, and the central nervous system . ACE2 is a component of the renin—angiotensin—aldosterone system (RAAS), a hormone system important in the regulation of blood pressure, fluid and electrolyte balance and the regulation of the systemic circulation . Abnormal activation of the RAAS has been associated with the pathogenesis of hypertension, heart failure and renal diseases. Its involvement in the inflammation pathogenesis is also well known . 
  • 750
  • 19 Jul 2021
Topic Review
MUC1 Gene
mucin 1, cell surface associated
  • 749
  • 23 Dec 2020
Topic Review
Holt-Oram Syndrome
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
  • 749
  • 23 Dec 2020
Topic Review
Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.
  • 749
  • 24 Dec 2020
Topic Review
WDR45 Gene
WD repeat domain 45.
  • 749
  • 24 Dec 2020
Topic Review
Renal Hypouricemia
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood.
  • 749
  • 24 Dec 2020
Topic Review
CARD14 Gene
caspase recruitment domain family member 14
  • 749
  • 24 Dec 2020
Topic Review
Microcephalic Osteodysplastic Primordial Dwarfism TypeII
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly).
  • 748
  • 23 Dec 2020
Topic Review
NPHP1 Gene
nephrocystin 1
  • 748
  • 24 Dec 2020
Topic Review
Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan.
  • 748
  • 24 Dec 2020
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