Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A liver biopsy specimen from a case of primary amyloidosis was investigated by electron microscopy. The cytoplasmic periphery of the hepatocytes showed degenerativechanges which are interpreted as indicating shedding of peripheral parts of the cytoplasm. Two main variants of this process could be discerned: 1) Protrusion and sequestration of hernia-like blebs of cytoplasm, and 2) shedding of vesicles derived from degenerated endoplasmic reticulum. In the latter case transient defects of the plasma membrane seem to be relevance. Endoplasmic reticulum and cytoplasmic ground substance appeared to be shed preferentially, whereas mitochondria are retained within the cell. As a consequence the fractional volume of the mitochondria in the cytoplasm of atrophic cells is markedly increased. Shedding of peripheral cytoplasm, therefore, seems to be an effective mechanism enabeling the cell to adapt the mass and the composition of its cytoplasm to an unfavourable environment.
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PMID:Shedding of peripheral cytoplasm - a mechanism of liver cell atrophy in human amyloidosis. 10 63

Calreticulin is a ubiquitous Ca2+ binding protein, located in the endoplasmic reticulum lumen, which has been implicated in many diverse functions including: regulation of intracellular Ca2+ homeostasis, chaperone activity, steroid-mediated gene regulation, and cell adhesion. To understand the physiological function of calreticulin we used gene targeting to create a knockout mouse for calreticulin. Mice homozygous for the calreticulin gene disruption developed omphalocele (failure of absorption of the umbilical hernia) and showed a marked decrease in ventricular wall thickness and deep intertrabecular recesses in the ventricular walls. Transgenic mice expressing a green fluorescent protein reporter gene under the control of the calreticulin promoter were used to show that the calreticulin gene is highly activated in the cardiovascular system during the early stages of cardiac development. Calreticulin protein is also highly expressed in the developing heart, but it is only a minor component of the mature heart. Bradykinin-induced Ca2+ release by the InsP3-dependent pathway was inhibited in crt-/- cells, suggesting that calreticulin plays a role in Ca2+ homeostasis. Calreticulin-deficient cells also exhibited impaired nuclear import of nuclear factor of activated T cell (NF-AT3) transcription factor indicating that calreticulin plays a role in cardiac development as a component of the Ca2+/calcineurin/NF-AT/GATA-4 transcription pathway.
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PMID:Calreticulin is essential for cardiac development. 1008 86