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Results: 15

1.

Hypoxia

A condition in which there is a decrease in the oxygen supply to a tissue. In cancer treatment, the level of hypoxia in a tumor may help predict the response of the tumor to the treatment. [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
2.

Von Hippel-Lindau

MedGen UID:
490007
Concept ID:
CN169367
Disease or Syndrome
3.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. [from MeSH]

MedGen UID:
45267
Concept ID:
C0030054
Pharmacologic Substance
4.

Macromolecular binding

MedGen UID:
554310
Concept ID:
C0314677
Molecular Function
5.

Proteasome Pathway

The proteasome is a protein-destroying apparatus involved in many essential cellular functions, such as regulation of cell cycle, cell differentiation, signal transduction pathways, antigen processing for appropriate immune responses, stress signaling, inflammatory responses, and apoptosis. It is capable of degrading a variety of cellular proteins in a rapid and timely fashion and most substrate proteins are modified by ubiquitin before their degradation by the proteasome. The proteasome is a large protein complex consisting of a proteolytic core called the 20S particle and ancillary factors that regulate its activity in various ways. The most common form is the 26S proteasome containing one 20S core particle and two 19S regulatory particles that enable the proteasome to degrade ubiquitinated proteins by an ATP-dependent mechanism. Another form is the immunoproteasome containing two 11S regulatory particles, PA28 alpha and PA28 beta, which are induced by interferon gamma under the conditions of intensified immune response. Other regulatory particles include PA28 gamma and PA200. Although PA28 gamma also belongs to a family of activators of the 20S proteasome, it is localized within the nucleus and forms a homoheptamer. PA28 gamma has been implicated in the regulation of cell cycle progression and apoptosis. PA200 has been identified as a large nuclear protein that stimulates proteasomal hydrolysis of peptides. [from NCI]

MedGen UID:
453136
Concept ID:
C1752727
Molecular Function
6.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
7.

Nuclear Translocation

Nuclear Translocation is a subcellular process in which activated cytoplasmic proteins are transported into the cell nucleus as part of a signal transduction pathway to modify cell function (typically gene expression) in response to a signaling event or condition. [from NCI]

MedGen UID:
273609
Concept ID:
C1518440
Molecular Function
8.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) disease is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL disease and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cysts of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
9.

Hypoxemia

A condition in which there is not enough oxygen in the blood. [from NCI]

MedGen UID:
152145
Concept ID:
C0700292
Finding
10.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Pharmacologic Substance
11.

Respiratory symptom

Respiratory system manifestations of diseases of the respiratory tract or of other organs. [from MeSH]

MedGen UID:
20754
Concept ID:
C0037090
Sign or Symptom
12.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
13.

Up-Regulation (Physiology)

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
14.

Oxygen supply absent

Absence or reduction of oxygen in body tissue. [from NCI]

MedGen UID:
1953
Concept ID:
C0003130
Pathologic Function
15.

Anoxemia

Relatively complete absence of oxygen in arterial blood. [from MeSH]

MedGen UID:
1952
Concept ID:
C0003129
Sign or Symptom

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