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Topic Review
STAT3 Gene
Signal transducer and activator of transcription 3: The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. 
  • 758
  • 22 Dec 2020
Topic Review
UBE3A Gene
Ubiquitin protein ligase E3A.
  • 758
  • 23 Dec 2020
Topic Review
KDM6A Gene
Lysine demethylase 6A
  • 758
  • 23 Dec 2020
Topic Review
CYP11B2 Gene
Cytochrome P450 Family 11 Subfamily B Member 2: The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). 
  • 758
  • 23 Dec 2020
Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 758
  • 24 Dec 2020
Topic Review
BAP1 Tumor Predisposition Syndrome
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
  • 758
  • 24 Dec 2020
Topic Review
OCRL Gene
OCRL, inositol polyphosphate-5-phosphatase
  • 758
  • 24 Dec 2020
Topic Review
FERMT1 Gene
Fermitin family member 1
  • 758
  • 25 Dec 2020
Topic Review
Eosinophil Peroxidase Deficiency
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response.
  • 758
  • 25 Dec 2020
Topic Review
MBD5 Gene
Methyl-CpG binding domain protein 5
  • 757
  • 23 Dec 2020
Topic Review
Langer Mesomelic Dysplasia
Langer mesomelic dysplasia is a disorder of bone growth.
  • 757
  • 23 Dec 2020
Topic Review
Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected.
  • 757
  • 23 Dec 2020
Topic Review
PTPN11 Gene
protein tyrosine phosphatase, non-receptor type 11
  • 757
  • 23 Dec 2020
Topic Review
Purine Nucleoside Phosphorylase Deficiency
Purine nucleoside phosphorylase deficiency is a disorder of the immune system called an immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 757
  • 24 Dec 2020
Topic Review
Amish Lethal Microcephaly
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  
  • 757
  • 24 Dec 2020
Topic Review
Chorea-Acanthocytosis
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder.
  • 757
  • 24 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 757
  • 24 Dec 2020
Topic Review
Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.
  • 757
  • 25 Dec 2020
Topic Review
MKKS Gene
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.
  • 756
  • 22 Dec 2020
Topic Review
UBA1 Gene
Ubiquitin like modifier activating enzyme 1.
  • 756
  • 23 Dec 2020
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