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Topic Review
Thrombocytopenia-absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.  
  • 712
  • 23 Dec 2020
Topic Review
IL36RN Gene
Interleukin 36 receptor antagonist
  • 712
  • 23 Dec 2020
Topic Review
Valuing the Wild
Warming and drought are reducing global crop production with a potential to substantially worsen global malnutrition. As with the green revolution in the last century, plant genetics may offer concrete opportunities to increase yield and crop adaptability. However, the rate at which the threat is happening requires powering new strategies in order to meet the global food demand.
  • 712
  • 09 Oct 2021
Topic Review
CTSD Gene
Cathepsin D: The CTSD gene provides instructions for making an enzyme called cathepsin D.
  • 711
  • 23 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 711
  • 24 Dec 2020
Topic Review
Genitopatellar Syndrome
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
  • 710
  • 23 Dec 2020
Topic Review
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach(gastric) cancer.
  • 710
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 710
  • 23 Dec 2020
Topic Review
KRT6B Gene
Keratin 6B
  • 710
  • 23 Dec 2020
Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 709
  • 23 Dec 2020
Topic Review
ERCC2 Gene
ERCC excision repair 2, TFIIH core complex helicase subunit
  • 709
  • 24 Dec 2020
Topic Review
FGFR1 Gene
Fibroblast growth factor receptor 1: The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. 
  • 709
  • 25 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 708
  • 23 Dec 2020
Topic Review
SLC29A3 Gene
solute carrier family 29 member 3
  • 708
  • 24 Dec 2020
Topic Review
Polycomb Group Proteins and Cancer
The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
  • 708
  • 11 Nov 2022
Topic Review
McLeod Neuroacanthocytosis Syndrome
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men.
  • 707
  • 23 Dec 2020
Topic Review
JUP Gene
Junction plakoglobin
  • 707
  • 23 Dec 2020
Topic Review
Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.
  • 706
  • 23 Dec 2020
Topic Review
RAG1 Gene
recombination activating 1
  • 706
  • 23 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 706
  • 24 Dec 2020
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