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Results: 1 to 20 of 24

1.

Statin-induced myopathy

MedGen UID:
507347
Concept ID:
CN181199
Sign or Symptom
2.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Error occurred: cannot get document summary

ID:
449624

4.

Myopathy

Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. [from MeSH]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
5.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
6.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
7.

Notch Signaling Pathway

Notch is a large cell-surface receptor that is activated by contact with membrane-bound ligands on neighboring cells. The ligands that activate Notch include Delta and Serrate, and Lag-2 is a Notch ligand in C. elegans. Activation of Notch by binding with its ligand on the surface of neighboring cells is involved in several developmental pathways, helping to determine cell fate. Much of the early insight into Notch signaling was derived from genetic studies in Drosophila and C. elegans models. Three different proteolytic steps process the 300 kD precursor of mature Notch. One protease is a furin-like enzyme that cleaves Notch constitutively adjacent to the amino acid sequence RQRR in the extracellular domain. Another proteolytic step in Notch processing is carried out by TACE, also known as ADAM17. Binding of extracellular ligand to Notch also induces cleavage at the transmembrane region by a gamma-secretase activity that is dependent on presenilin-1. The exact identity of the polypeptide that catalyzes the gamma-secretase enzyme activity has been debated. Labeling of presenilin with irreversible gamma-secretase transition state inhibitors indicates that is itself in fact the site of protease activity. It has also been argued that the gamma secretase is not presenilin-1 itself, but another polypeptide that requires Notch for its activity and is distinct from Presenilin-1. Cleavage of Notch in the extracellular domain releases the Notch intracellular domain (NCID) which migrates into the nucleus where it associates with CSL transcription factors and acts as a transcriptional coactivator. The proteolytic processing of Notch resembles in several ways the proteolytic processing of amyloid precursor protein (APP) that is implicated in plaque formation in Alzheimer's disease, with TACE and Presenilin-1 implicated in proteolytic processing of both Notch and APP. (BioCarta) [from NCI]

MedGen UID:
216951
Concept ID:
C1155452
Molecular Function
8.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
9.

Signal Transduction Pathways

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
10.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
11.

Lipid Regulating Agents

Substances that alter the metabolism of LIPIDS. [from MeSH]

MedGen UID:
423485
Concept ID:
C2936244
Pharmacologic Substance
12.

Molecular Mechanisms of Pharmacological Action

Pharmacological activities at the molecular level of DRUGS and other exogenous compounds that are used to treat DISEASES and affect normal BIOCHEMISTRY. [from MeSH]

MedGen UID:
226255
Concept ID:
C1258062
Molecular Function
13.

Hydroxymethylglutaryl-CoA Reductase Inhibitors

A class of agents that inhibit HMG-CoA reductase, the rate-limiting enzyme in cholesterol synthesis. [from NCI]

MedGen UID:
83925
Concept ID:
C0360714
Pharmacologic Substance
14.

Hypolipidemic Agents

Substances that lower the levels of certain LIPIDS in the BLOOD. They are used to treat HYPERLIPIDEMIAS. [from MeSH]

MedGen UID:
39224
Concept ID:
C0086440
Pharmacologic Substance
15.

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
16.

Neuromuscular Diseases

A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. [from MeSH]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
17.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
8807
Concept ID:
C0015780
Finding
18.

Enzyme Inhibitors

compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. [from CRISP]

MedGen UID:
8652
Concept ID:
C0014432
Pharmacologic Substance
19.

Antimetabolites

An antineoplastic agent with a structural similarity to a natural substance that can replace that substance in a normal biochemical pathway and interfere with the normal metabolic processes of cells. [from NCI]

MedGen UID:
8136
Concept ID:
C0003376
Pharmacologic Substance
20.

Elderly person

A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. [from MeSH]

MedGen UID:
7927
Concept ID:
C0001792
Finding

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