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Items: 11

1.

Telomere Shortening

Telomere Shortening occurs every time linear eukaryotic chromosomes are replicated due to premature stoppage of the DNA polymerase complex in the highly repetitive telomere DNA region several hundred bases before the end of a chromosome. [from NCI]

MedGen UID:
308250
Concept ID:
C1515263
Cell or Molecular Dysfunction
2.

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
3.

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
4.

Phosphorylation

The creation of a phosphate derivative of an organic molecule. This is usually achieved by transferring a phosphate group from ATP via the action of a kinase. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
5.

Acetylation

Acetylation involves the covalent linkage of an acetyl group into an organic molecule. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
6.

SMITH-MCCORT DYSPLASIA 1

MedGen UID:
854757
Concept ID:
C3888088
Disease or Syndrome
7.

Smith-McCort dysplasia 1

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). Genetic Heterogeneity of Smith-McCort Dysplasia Smith-McCort dysplasia-2 (SMC2; 615222) is caused by mutation in the RAB33B gene (605950) on chromosome 4q31. [from GTR]

MedGen UID:
375887
Concept ID:
C1846431
Disease or Syndrome
8.

Histone Acetylation

Histone Acetylation involves covalent linkage of acetyl groups to highly basic histone proteins associated with DNA, particularly in active chromatin, and may be involved in regulation of gene expression. [from NCI]

MedGen UID:
257867
Concept ID:
C1156200
Molecular Function
9.

DNA Methylation

The process by which methyl groups are added to nucleotides in genomic DNA. [from NCI]

MedGen UID:
138191
Concept ID:
C0376452
Molecular Function
10.

Increased sensitivity to ionizing radiation

An abnormally increased sensitivity to the effects of ionizing radiation. [from HPO]

MedGen UID:
867472
Concept ID:
C4021850
Finding
11.

Telangiectasia due to radiation damage

MedGen UID:
698351
Concept ID:
C1275042
Disease or Syndrome
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