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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
Hashimoto Thyroiditis
Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 857
  • 23 Dec 2020
Topic Review
PTEN Gene
phosphatase and tensin homolog
  • 857
  • 23 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.
  • 857
  • 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.
  • 857
  • 24 Dec 2020
Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 857
  • 24 Dec 2020
Topic Review
Genetics of Plasma LDL-c Levels (i): Monogenicity
Changes in plasma low-density lipoprotein cholesterol (LDL-c) levels relate to a high risk of developing some common and complex diseases. LDL-c, as a quantitative trait, is multifactorial and depends on both genetic and environmental factors. In the pregenomic age, targeted genes were used to detect genetic factors in both hyper- and hypolipidemias, but this approach only explained extreme cases in the population distribution. Subsequently, the genetic basis of the less severe and most common dyslipidemias remained unknown. In the genomic age, performing whole-exome sequencing in families with extreme plasma LDL-c values identified some new candidate genes, but it is unlikely that such genes can explain the majority of inexplicable cases. Genome-wide association studies (GWASs) have identified several single-nucleotide variants (SNVs) associated with plasma LDL-c, introducing the idea of a polygenic origin. Polygenic risk scores (PRSs), including LDL-c-raising alleles, were developed to measure the contribution of the accumulation of small-effect variants to plasma LDL-c. 
  • 857
  • 27 Nov 2021
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.
  • 857
  • 24 Dec 2020
Topic Review
Glucose Phosphate Isomerase Deficiency
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.
  • 856
  • 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. 
  • 856
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 856
  • 24 Dec 2020
Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 856
  • 24 Dec 2020
Topic Review
GDF6 Gene
Growth differentiation factor 6
  • 856
  • 25 Dec 2020
Topic Review
PHOX2B Gene
paired like homeobox 2B
  • 856
  • 25 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.
  • 856
  • 06 Aug 2021
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. 
  • 856
  • 15 Sep 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.
  • 856
  • 23 Dec 2020
Topic Review
LRP5 Gene
LDL receptor related protein 5
  • 856
  • 23 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.
  • 856
  • 24 Dec 2020
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).  
  • 855
  • 30 Oct 2020
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