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Items: 1 to 20 of 32

1.

Lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
2.

Quinpirole

A dopamine D2/D3 receptor agonist. [from MeSH]

MedGen UID:
75025
Concept ID:
C0072892
Organic Chemical; Pharmacologic Substance
3.

Schizophrenia

Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target. [from Medical Genetics Summaries]

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
4.

Dopamine

A monoamine compound with positive inotropic activity. Dopamine is a naturally occurring catecholamine formed by decarboxylation of dehydroxyphenylalanine and a precursor of norepinephrine and epinephrine. Dopamine binds to alpha-1 and beta-1 adrenergic receptors. Mediated through myocardial beta-1 adrenergic receptors, dopamine increase heart rate and force, thereby increasing cardiac output. Alpha-1 adrenergic receptor stimulation on vascular smooth muscle, leads to vasoconstriction and results in an increase in systemic vascular resistance. Stimulation of dopaminergic receptors in renal vasculature, leads to renal blood vessel dilation, and an increase in glomerular filtration rate, renal blood flow, sodium excretion, and urine output. [from NCI]

MedGen UID:
41644
Concept ID:
C0013030
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
5.

Picrotoxin

A noncompetitive antagonist at GABA-A receptors and thus a convulsant. Picrotoxin blocks the GAMMA-AMINOBUTYRIC ACID-activated chloride ionophore. Although it is most often used as a research tool, it has been used as a CNS stimulant and an antidote in poisoning by CNS depressants, especially the barbiturates. [from MeSH]

MedGen UID:
18473
Concept ID:
C0031890
Hazardous or Poisonous Substance; Organic Chemical; Pharmacologic Substance
6.

Calcium

A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [from MeSH]

MedGen UID:
710
Concept ID:
C0006675
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
7.

Neonatal Lesion

A benign or malignant lesion that occurs in the neonatal period. [from NCI]

MedGen UID:
889072
Concept ID:
C4054409
Finding
8.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
9.

Schizophrenia

MedGen UID:
506532
Concept ID:
CN117643
Finding
10.

Agonist

An agent that has affinity for a receptor and intrinsic activity at that receptor. [from NCI]

MedGen UID:
459858
Concept ID:
C2987634
Pharmacologic Substance
11.

Calcium Binding

Calcium Binding consists of a biophysical interaction between one or more calcium ion(s) and a biological molecule, such as a protein. Calcium binding with proteins often involves interaction of the ion(s) with a specific region, domain, or motif (e.g., EF-Hand) that supports protein structure or induces an alteration of protein activity in enzymatic or cell signaling cascades. [from NCI]

MedGen UID:
271964
Concept ID:
C1516144
Molecular Function
12.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
13.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
14.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
15.

Aminobutyrates

Derivatives of BUTYRIC ACID that contain one or more amino groups attached to the aliphatic structure. Included under this heading are a broad variety of acid forms, salts, esters, and amides that include the aminobutryrate structure. [from MeSH]

MedGen UID:
473507
Concept ID:
C1979618
Organic Chemical; Pharmacologic Substance
16.

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
17.

Gammalon

MedGen UID:
147623
Concept ID:
C0733457
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
18.

Schizophrenia Spectrum and Other Psychotic Disorders

Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5) [from MeSH]

MedGen UID:
141907
Concept ID:
C0525046
Mental or Behavioral Dysfunction
19.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
20.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
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