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Items: 14

1.

Azacitidine

A pyrimidine analogue that inhibits DNA methyltransferase, impairing DNA methylation. It is also an antimetabolite of cytidine, incorporated primarily into RNA. Azacytidine has been used as an antineoplastic agent. [from MeSH]

MedGen UID:
467
Concept ID:
C0004475
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
2.

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
3.

Osteoarthritis susceptibility 1

Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401). [from GTR]

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
4.

UPREG

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
5.

Parathyroid hormone agent

A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates. [from MeSH]

MedGen UID:
10585
Concept ID:
C0030520
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
6.

Hypertrophy

Abnormal enlargement of a body part or organ. [from NCI]

MedGen UID:
5703
Concept ID:
C0020564
Pathologic Function
7.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
8.

Osteoarthritis

MedGen UID:
505348
Concept ID:
CN002503
Finding
9.

Acrocephalosyndactyly

A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes. [from NCI]

MedGen UID:
267602
Concept ID:
C1510455
Congenital Abnormality
10.

Acrocallosal syndrome, Schinzel type

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GTR]

MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome
11.

Vidaza

MedGen UID:
288801
Concept ID:
C1563756
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
12.

NSC-102816

MedGen UID:
209173
Concept ID:
C0878254
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
13.

Hypertrophy of bone and cartilage

MedGen UID:
569485
Concept ID:
C0333968
Pathologic Function
14.

Increased responsiveness to growth hormone

MedGen UID:
448296
Concept ID:
CN069191
Disease or Syndrome
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