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Items: 17

1.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
2.

Hyperhomocysteinemia

Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994). Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998). Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380). [from GTR]

MedGen UID:
108623
Concept ID:
C0598608
Disease or Syndrome
3.

Methionine preparation

A sulfur-containing essential L-amino acid that is important in many body functions. [from MeSH]

MedGen UID:
9989
Concept ID:
C0025646
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Adenosine preparation

A nucleoside that is composed of ADENINE and D-RIBOSE. Adenosine or adenosine derivatives play many important biological roles in addition to being components of DNA and RNA. Adenosine itself is a neurotransmitter. [from MeSH]

MedGen UID:
127
Concept ID:
C0001443
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
5.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
6.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
7.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
8.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
9.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
10.

Adenoscan

MedGen UID:
810650
Concept ID:
C0718262
Organic Chemical; Pharmacologic Substance
11.

Samyr

MedGen UID:
259310
Concept ID:
C1448470
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Liquimeth

MedGen UID:
196144
Concept ID:
C0701428
Amino Acid, Peptide, or Protein; Pharmacologic Substance
13.

Gumbaral

MedGen UID:
43329
Concept ID:
C0086378
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Ademetionine

A nutritional supplement that is synthesized from adenosine triphosphate (ATP) and the amino acid methionine by the endogenous essential enzyme methionine adenosyltransferase (MAT), with potential antineoplastic activity. Upon administration, S-adenosylmethionine acts as a methyl donor for various transmethylation reactions. In cancer cells, this agent induces the methylation of tumor promoting genes, reverses DNA hypomethylation, and leads to the suppression of oncogene transcription. This induces apoptosis in and inhibits proliferation of susceptible tumor cells. [from NCI]

MedGen UID:
19852
Concept ID:
C0036002
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
15.

Purine nucleoside

Purines with a RIBOSE attached that can be phosphorylated to PURINE NUCLEOTIDES. [from MeSH]

MedGen UID:
18775
Concept ID:
C0034136
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
16.

Pedameth

MedGen UID:
10615
Concept ID:
C0030749
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
17.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
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