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Items: 11

1.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight 16. [from NCI]

MedGen UID:
45267
Concept ID:
C0030054
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
2.

Hypoparathyroidism familial isolated

Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966). [from OMIM]

MedGen UID:
322005
Concept ID:
C1832648
Disease or Syndrome
3.

Ubiquitination

The process in which one or more ubiquitin groups are added to a protein. [GOC:ai] [from GO]

MedGen UID:
276919
Concept ID:
C1519751
Molecular Function
4.

Ankyrin Repeat

Protein motif that contains a 33-amino acid long sequence that often occurs in tandem arrays. This repeating sequence of 33-amino acids was discovered in ANKYRIN where it is involved in interaction with the anion exchanger (ANION EXCHANGE PROTEIN 1, ERYTHROCYTE). Ankyrin repeats cooperatively fold into domains that mediate molecular recognition via protein-protein interactions. [from MeSH]

MedGen UID:
58116
Concept ID:
C0162527
Molecular Function
5.

Oxygen concentration

MedGen UID:
606584
Concept ID:
C0428646
Finding
6.

Tension

A feeling of mental or emotional strain or suspense. [from NCI]

MedGen UID:
452291
Concept ID:
C0233494
Mental or Behavioral Dysfunction
7.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
8.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
9.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
10.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
11.

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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