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Items: 1 to 20 of 33

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.

P-2

MedGen UID:
114772
Concept ID:
C0608663
Organic Chemical; Pharmacologic Substance
3.

Dementia

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. [from HPO]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
4.

Oxidative stress

A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi). [from MeSH]

MedGen UID:
66929
Concept ID:
C0242606
Cell or Molecular Dysfunction
5.

Mental deterioration

Loss of previously present mental abilities, generally in adults. [from HPO]

MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
6.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
7.

Aging

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). [from GTR]

MedGen UID:
1376
Concept ID:
C0001811
Organism Function
8.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
9.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
10.

Stress

The negative mental, emotional, and physical reactions that occur when environmental stressors are perceived as exceeding the individual's adaptive capacities. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
11.

Alzheimer disease

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GTR]

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
12.

Neurocognitive disorder

A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
13.

Tauopathy

Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration. [from MeSH]

MedGen UID:
181880
Concept ID:
C0949664
Disease or Syndrome
14.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
15.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
16.

Cognitive disorder

A category of psychiatric disorders which are characterized by a deficit in cognition or memory. [from NCI]

MedGen UID:
40371
Concept ID:
C0009241
Mental or Behavioral Dysfunction
17.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
18.

Psychoses, Traumatic

MedGen UID:
19557
Concept ID:
C0033943
Mental or Behavioral Dysfunction
19.

Overinclusion

MedGen UID:
14542
Concept ID:
C0029947
Mental or Behavioral Dysfunction
20.

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
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