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Items: 13

1.

Ubiquitination

Ubiquitin is a family of widely distributed proteins found in all eukaryotes that contain a highly conserved sequence of 76 amino acids identical in organisms from humans to insects. It participates in diverse cellular functions by conjugation to other proteins through its carboxy terminus. Ubiquitination is associated with many highly regulated biological events including protein degradation, chromatin remodelling, heat shock, cell cycle progression, differentiation, antigen presentation, retrovirus assembly, apoptosis, signal transduction, transcriptional activation, biological clocks, receptor down regulation, and endocytosis. Protein ubiquitination regulates the half-lives of many proteins by targeting them for degradation. Newly discovered families of ubiquitination and deubiquitination enzymes participate in these processes. Ubiquitination enzymes may provide new therapeutic targets and ways of intervention in many human diseases. [from NCI]

MedGen UID:
276919
Concept ID:
C1519751
Molecular Function
2.

HELIX SYNDROME

MedGen UID:
1132668
Concept ID:
CN469329
Disease or Syndrome
3.

Unable

A response indicating that an individual cannot do something. [from NCI]

MedGen UID:
721425
Concept ID:
C1299582
Finding
4.

Cranioosteoarthropathy

A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome
5.

Proteolytic Processing

Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability. [from NCI]

MedGen UID:
271417
Concept ID:
C1514570
Molecular Function
6.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
7.

Syringocystadenoma Papilliferum

A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. [from NCI]

MedGen UID:
98362
Concept ID:
C0406803
Neoplastic Process
8.

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
9.

Magnesiocard

MedGen UID:
195605
Concept ID:
C0677518
Amino Acid, Peptide, or Protein; Pharmacologic Substance
10.

Mutagenesis

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
11.

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
12.

Mg-5-Longoral

MedGen UID:
9851
Concept ID:
C0024470
Amino Acid, Peptide, or Protein; Pharmacologic Substance
13.

Epicholesterol

MedGen UID:
4089
Concept ID:
C0014487
Organic Chemical; Pharmacologic Substance
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