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Topic Review
PIK3CD Gene
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • 858
  • 25 Dec 2020
Topic Review
STAT4 Gene
Signal transducer and activator of transcription 4: The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.
  • 857
  • 22 Dec 2020
Topic Review
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
  • 857
  • 23 Dec 2020
Topic Review
ATP7A Gene
ATPase copper transporting alpha
  • 857
  • 24 Dec 2020
Topic Review
NNT Gene
nicotinamide nucleotide transhydrogenase
  • 857
  • 24 Dec 2020
Topic Review
RUNX2
runt related transcription factor 2
  • 856
  • 24 Dec 2020
Topic Review
X-linked Creatine Deficiency
X-linked creatine deficiency is an inherited disorder that primarily affects the brain.
  • 856
  • 24 Dec 2020
Topic Review
F11 Gene
Coagulation factor XI
  • 856
  • 24 Dec 2020
Topic Review
Erdheim-Chester Disease
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
  • 856
  • 25 Dec 2020
Topic Review
WT1 Gene
Wilms tumor 1: the WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before birth. After birth, WT1 protein activity is limited to a structure known as the glomerulus, which filters blood through the kidneys. 
  • 855
  • 24 Dec 2020
Topic Review
CAV3 Gene
caveolin 3
  • 855
  • 24 Dec 2020
Topic Review
CLCN1 Gene
chloride voltage-gated channel 1
  • 855
  • 24 Dec 2020
Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 855
  • 24 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 854
  • 22 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.
  • 854
  • 25 Dec 2020
Topic Review
Gene Therapy Approaches for the Hemophilia B
In contrast to the standard enzyme-replacement therapy, administered from once per 7–14 days to 2–3 times a week in patients with severe hemophilia B, as a result of a single injection, gene therapy can restore F9 gene expression and maintain it for a prolonged time. In clinical research, the approach of delivering a functional copy of a gene using adeno-associated viral (AAV) vectors is widely used. The scientific community is actively researching possible modifications to improve delivery efficiency and expression. In preclinical studies, the possibility of genome editing using CRISPR/Cas9 technology for the treatment of hemophilia B is also being actively studied.
  • 854
  • 13 Jul 2023
Topic Review
3-hydroxyacyl-CoA Dehydrogenase Deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).
  • 853
  • 23 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 853
  • 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.
  • 853
  • 23 Dec 2020
Topic Review
Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 853
  • 24 Dec 2020
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