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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.
  • 744
  • 23 Dec 2020
Topic Review
Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 744
  • 24 Dec 2020
Topic Review
DYNC2H1 Gene
Dynein Cytoplasmic 2 Heavy Chain 1
  • 744
  • 24 Dec 2020
Topic Review
Andersen-Tawil Syndrome
Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. Periodic paralysis begins early in life, and episodes last from hours to days. These episodes may occur after exercise or long periods of rest, but they often have no obvious trigger. Muscle strength usually returns to normal between episodes. However, mild muscle weakness may eventually become permanent.
  • 743
  • 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.
  • 743
  • 24 Dec 2020
Topic Review
Histone Modification and Cancer
The nucleosome is the basic unit of chromatin. It is an octamer composed of 4 core histones (H3, H4, H2A, H2B), including one H3-H4 tetramer and two H2A-H2B dimers, surrounded by 147 pairs of DNA base pairs. The core histones form a spherical core particle, and their N-terminal tails are free from the core particle, which helps the modification occur. Posttranslational modifications (PTMs) are involved in a variety of cellular processes, such as transcription, DNA damage, apoptosis, and cell cycle regulation. Mass spectrometry is a powerful tool for finding and verifying histone PTMs.
  • 743
  • 22 Mar 2023
Topic Review
Holt-Oram Syndrome
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
  • 742
  • 23 Dec 2020
Topic Review
Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body.
  • 742
  • 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.
  • 742
  • 23 Dec 2020
Topic Review
CARD11 Gene
caspase recruitment domain family member 11
  • 742
  • 24 Dec 2020
Topic Review
CARD14 Gene
caspase recruitment domain family member 14
  • 742
  • 24 Dec 2020
Topic Review
Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system.
  • 742
  • 25 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 . 
  • 742
  • 19 Jul 2021
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).
  • 741
  • 23 Dec 2020
Topic Review
Optic Atrophy Type 1
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 741
  • 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.
  • 741
  • 24 Dec 2020
Topic Review
CHRNA4 Gene
cholinergic receptor nicotinic alpha 4 subunit
  • 741
  • 24 Dec 2020
Topic Review
HOXA13 Gene
Homeobox A13
  • 740
  • 23 Dec 2020
Topic Review
KCNH2 Gene
Potassium voltage-gated channel subfamily H member 2
  • 740
  • 23 Dec 2020
Topic Review
DYRK1A Gene
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
  • 740
  • 24 Dec 2020
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