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Topic Review
Non-Sensing Ocular Ion Channels
Ionchannels are membrane protein that allows the flow of ions across the cell membrane. This is essential for cellular communication and hence mutations that results in non functional protein cause disease. The paper reviews only nonsense mutations of ion channels that cause blindness and proposes several ways this can be corrected. 
  • 1.0K
  • 10 Oct 2020
Topic Review
Fundus Albipunctatus
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.
  • 1.0K
  • 23 Dec 2020
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 1.0K
  • 19 Apr 2021
Topic Review
Persistent Müllerian Duct Syndrome
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.
  • 1.0K
  • 24 Dec 2020
Topic Review
Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females.
  • 1.0K
  • 23 Dec 2020
Topic Review
MicroRNAs in Thyroid Cancers Prognosis
Current prognostication systems have inherent limitations associated with the prediction of recurrence risk from thyroid cancer (TC). Recent studies identified associations between specific levels of microRNAs and aggressive TC clinicopathological features.
  • 1.0K
  • 26 Oct 2020
Topic Review
9q22.3 Microdeletion
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.
  • 1.0K
  • 23 Dec 2020
Topic Review
DLD Gene
Dihydrolipoamide Dehydrogenase: The DLD gene provides instructions for making an enzyme called dihydrolipoamide dehydrogenase. 
  • 1.0K
  • 24 Dec 2020
Topic Review
Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 1.0K
  • 24 Dec 2020
Topic Review
OSMR Gene
oncostatin M receptor
  • 1.0K
  • 24 Dec 2020
Topic Review
Fuchs Endothelial Dystrophy
Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.
  • 1.0K
  • 23 Dec 2020
Topic Review
Noonan Syndrome
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
  • 1.0K
  • 24 Dec 2020
Topic Review
CFEOM
Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.
  • 1.0K
  • 04 Jan 2021
Topic Review
Hereditary Fructose Intolerance
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits.
  • 1.0K
  • 23 Dec 2020
Topic Review
Tibial Muscular Dystrophy
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg.
  • 1.0K
  • 23 Dec 2020
Topic Review
COMT Gene
catechol-O-methyltransferase
  • 1.0K
  • 24 Dec 2020
Topic Review
Beta Thalassemia
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males.
  • 1.0K
  • 24 Dec 2020
Topic Review
ABCC2 Gene
ATP binding cassette subfamily C member 2
  • 1.0K
  • 24 Dec 2020
Topic Review
NcRNAs in Human Diseases
The mammalian genome comprehends a small minority of genes that encode for proteins (barely 2% of the total genome in humans) and an immense majority of genes that are transcribed into RNA but not encoded for proteins (ncRNAs). These non-coding genes are intimately related to the expression regulation of protein-coding genes. The ncRNAs subtypes differ in their size, so there are long non-coding genes (lncRNAs) and other smaller ones, like microRNAs (miRNAs) and piwi-interacting RNAs (piRNAs). Due to their important role in the maintenance of cellular functioning, any deregulation of the expression profiles of these ncRNAs can dissemble in the development of different types of diseases, such as cancer, neurodegenerative, or cardiovascular disorders.
  • 1.0K
  • 16 Mar 2021
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