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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Skin biopsy: collagen VII intracellular retention on EM (Lab: pathology: biopsies & morphology) #9172

Closed pnrobinson closed 1 year ago

pnrobinson commented 1 year ago

New term request Skin biopsy: collagen VII intracellular retention on EM (elthat_100812035049): Electron microscopy

pnrobinson commented 1 year ago

@MickeySegal I think this can also be seen by immunofluorescence, I would add the term like this:

Label: Intracellular accumulation of collagen VII

Comment: Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin. See Figure 2B of PMID:8288900.

PMID:19726672 PMID: 8288900

MickeySegal commented 1 year ago

That is fine.

pnrobinson commented 1 year ago

added as HP:0034999