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Topic Review
Pilomatricoma
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles.
  • 1.1K
  • 24 Dec 2020
Topic Review
X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.  
  • 1.1K
  • 24 Dec 2020
Topic Review
MYH9-Related Disorder
MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).
  • 1.1K
  • 23 Dec 2020
Topic Review
FGA Gene
Fibrinogen alpha chain
  • 1.1K
  • 25 Dec 2020
Topic Review
Mainzer-Saldino Syndrome
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.
  • 1.1K
  • 23 Dec 2020
Topic Review
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 1.1K
  • 23 Dec 2020
Topic Review
DNA Assembly
Assembly of DNA-grafted 3D superlattice is composed of two pivotal elements: nanoparticles (NPs) core and DNA shell. The progress of chemical synthesis technique enables the chemical composition of NP core unrestricted; it can be metals, oxides, polymers, even biological molecule, which also allow for the integration of multiple functions like luminescent, catalytic, magnetic properties, and so on.
  • 1.1K
  • 28 Jul 2021
Topic Review
Björnstad Syndrome
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
AKT1 Gene
AKT serine/threonine kinase 1
  • 1.1K
  • 24 Dec 2020
Topic Review
THAP1 Gene
THAP domain containing 1: The THAP1 gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes.
  • 1.1K
  • 25 Dec 2020
Topic Review
Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.
  • 1.1K
  • 31 Dec 2020
Topic Review
Otopalatodigital Syndrome Type 1
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.
  • 1.1K
  • 24 Dec 2020
Topic Review
MYOC and Glaucoma
MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG).
  • 1.1K
  • 02 Feb 2021
Topic Review
Usher Syndrome
Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body.
  • 1.1K
  • 25 Dec 2020
Topic Review
DHMN-V
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.
  • 1.1K
  • 04 Jan 2021
Topic Review
Gout
Gout is a type of arthritis, which is a group of related disorders caused by episodes of abnormal inflammation in the joints. People with gout have high levels of a substance called urate in the blood (hyperuricemia).
  • 1.1K
  • 23 Dec 2020
Topic Review
DNA Damage and Multiple Myeloma
Multiple myeloma (MM) is an incurable plasma cell malignancy characterized by genomic instability. MM cells present various forms of genetic instability, including chromosomal instability, microsatellite instability, and base-pair alterations, as well as changes in chromosome number. The tumor microenvironment and an abnormal DNA repair function affect genetic instability in this disease. In addition, states of the tumor microenvironment itself, such as inflammation and hypoxia, influence the DNA damage response, which includes DNA repair mechanisms, cell cycle checkpoints, and apoptotic pathways. Unrepaired DNA damage in tumor cells has been shown to exacerbate genomic instability and aberrant features that enable MM progression and drug resistance.
  • 1.1K
  • 18 Feb 2021
Topic Review
McCune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
  • 1.1K
  • 23 Dec 2020
Topic Review
PRKN Gene
parkin RBR E3 ubiquitin protein ligase
  • 1.1K
  • 22 Dec 2020
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