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Topic Review
Pyruvate Carboxylase Deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.
  • 849
  • 24 Dec 2020
Topic Review
Familial Hyperaldosteronism
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
  • 849
  • 25 Dec 2020
Topic Review
GJB1 Gene
Gap junction protein beta 1
  • 849
  • 25 Dec 2020
Topic Review
PPT1 Gene
palmitoyl-protein thioesterase 1
  • 849
  • 25 Dec 2020
Topic Review
Primary Spontaneous Pneumothorax
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.
  • 849
  • 04 Jan 2021
Topic Review
TSHB Gene
thyroid stimulating hormone beta
  • 848
  • 23 Dec 2020
Topic Review
NF1 Gene
neurofibromin 1
  • 848
  • 23 Dec 2020
Topic Review
VPS13B Gene
Vacuolar protein sorting 13 homolog B.
  • 848
  • 24 Dec 2020
Topic Review
Schwannomatosis
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves.
  • 848
  • 24 Dec 2020
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 848
  • 25 Dec 2020
Topic Review
Economically Relevant Traits Related Candidate Genes in Caprine
Despite their pivotal position as relevant sources for high-quality proteins in particularly hard environmental contexts, the domestic goat has not benefited from the advances made in genomics compared to other livestock species. Genetic analysis based on the study of candidate genes is considered an appropriate approach to elucidate the physiological mechanisms involved in the regulation of the expression of functional traits. This is especially relevant when such functional traits are linked to economic interest. The knowledge of candidate genes, their location on the goat genetic map and the specific phenotypic outcomes that may arise due to the regulation of their expression act as a catalyzer for the efficiency and accuracy of goat-breeding policies, which in turn translates into a greater competitiveness and sustainable profit for goats worldwide. 
  • 848
  • 19 Apr 2022
Topic Review
Christianson Syndrome
Christianson syndrome is a disorder that primarily affects the nervous system.
  • 847
  • 24 Dec 2020
Topic Review
TECPR2 Gene
Tectonin beta-propeller repeat containing 2: The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. 
  • 847
  • 24 Dec 2020
Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 846
  • 23 Dec 2020
Topic Review
Opioid Addiction
Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.
  • 846
  • 24 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 846
  • 24 Dec 2020
Topic Review
TERT Gene
Telomerase reverse transcriptase: The TERT gene provides instructions for making one component of an enzyme called telomerase.
  • 846
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 846
  • 24 Dec 2020
Topic Review
Factor XIII Deficiency
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.
  • 846
  • 25 Dec 2020
Topic Review
PANK2 Gene
pantothenate kinase 2
  • 846
  • 25 Dec 2020
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