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Topic Review
Epigenetic Biomarkers for Neurodegenerative Disorders
Epigenetics is the study of heritable changes in gene expression that occur without alterations to the DNA sequence, linking the genome to its surroundings. The accumulation of epigenetic alterations over the lifespan may contribute to neurodegeneration.
  • 861
  • 19 Jan 2022
Topic Review
LRP5 Gene
LDL receptor related protein 5
  • 861
  • 23 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 860
  • 22 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 860
  • 23 Dec 2020
Topic Review
Donohue Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.
  • 860
  • 24 Dec 2020
Topic Review
Glaucoma Heritability
Glaucoma, a leading cause of irreversible blindness globally, is a degenerative optic neuropathy characterized by progressive visual field defects corresponding to retinal ganglion cell and retinal nerve fiber layer (RNFL) degeneration.
  • 860
  • 06 Aug 2021
Topic Review
Hyperprolinemia
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.
  • 859
  • 23 Dec 2020
Topic Review
White Sponge Nevus
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue.
  • 859
  • 23 Dec 2020
Topic Review
TBX1 Gene
T-box 1: The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. 
  • 859
  • 24 Dec 2020
Topic Review
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly.
  • 859
  • 25 Dec 2020
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 858
  • 23 Dec 2020
Topic Review
CLN7 Disease
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
  • 858
  • 24 Dec 2020
Topic Review
CLN8 Disease
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.
  • 858
  • 05 Apr 2021
Topic Review
X-linked Juvenile Retinoschisis
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males.
  • 858
  • 24 Dec 2020
Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 858
  • 24 Dec 2020
Topic Review
Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
  • 858
  • 24 Dec 2020
Topic Review
Familial Partial Lipodystrophy
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.
  • 858
  • 25 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 858
  • 25 Dec 2020
Topic Review
NcRNAs in Cardiac Action Potential
microRNAs represent the most studied type of small ncRNAs and it has been demonstrated that miRNAs play essential roles in multiple biological contexts, including normal development and diseases. Cardiac arrhythmias are prevalent among humans across all age ranges, affecting millions of people worldwide. While cardiac arrhythmias vary widely in their clinical presentation, they possess shared complex electrophysiologic properties at cellular level that have not been fully studied. 
  • 858
  • 15 Sep 2021
Topic Review
Instability of Non-Standard Microsatellites
Elevated microsatellite alterations at selected tetranucleotide (EMAST) repeats are a genetic signature of colorectal cancers and are caused by somatic dysfunction of the DNA mismatch repair (MMR) protein MutS Homolog 3 (MSH3). There are very few data showing the relation of EMAST presence in the genome with the response to treatment, and there is no information about the metastatic setting. To the best of our knowledge, this is the first study evaluating the correlation between EMAST and response to treatment with chemotherapy or chemotherapy plus bevacizumab in metastatic colorectal cancer (mCRC).  
  • 857
  • 30 Oct 2020
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