PHEX Phosphate Regulating Neutral Endopeptidase
"PHEX Phosphate Regulating Neutral Endopeptidase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A membrane-bound metalloendopeptidase that may play a role in the degradation or activation of a variety of PEPTIDE HORMONES and INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS. Genetic mutations that result in loss of function of this protein are a cause of HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT.
Descriptor ID |
D053402
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MeSH Number(s) |
D08.811.277.656.300.480.616 D08.811.277.656.675.374.616 D12.776.395.550.611 D12.776.543.550.607
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Concept/Terms |
PHEX Phosphate Regulating Neutral Endopeptidase- PHEX Phosphate Regulating Neutral Endopeptidase
- X-Linked Phosphate Regulating Endopeptidase Homolog
- X Linked Phosphate Regulating Endopeptidase Homolog
- Phosphate Regulating Neutral Endopeptidase
- PEX Phosphate Regulating Neutral Endopeptidase
- Phosphate Regulating Endopeptidase Homolog, X-Linked
- Phosphate Regulating Endopeptidase Homolog, X Linked
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Below are MeSH descriptors whose meaning is more general than "PHEX Phosphate Regulating Neutral Endopeptidase".
Below are MeSH descriptors whose meaning is more specific than "PHEX Phosphate Regulating Neutral Endopeptidase".
This graph shows the total number of publications written about "PHEX Phosphate Regulating Neutral Endopeptidase" by people in this website by year, and whether "PHEX Phosphate Regulating Neutral Endopeptidase" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2007 | 0 | 1 | 1 |
2015 | 0 | 2 | 2 |
2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "PHEX Phosphate Regulating Neutral Endopeptidase" by people in Profiles.
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Conductive Hearing Loss in the Hyp Mouse Model of X-Linked Hypophosphatemia Is Accompanied by Hypomineralization of the Auditory Ossicles. J Bone Miner Res. 2021 12; 36(12):2317-2328.
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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar; 117(3):313-21.
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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. J Transl Med. 2015 Jun 04; 13:179.
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X-linked hypophosphatemic rickets associated with respiratory failure. Clin Pediatr (Phila). 2008 Apr; 47(3):293-5.