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Article

Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism.

The Journal of clinical endocrinology and metabolism - 1 Oct 2002

Leaños-Miranda Alfredo, Janovick Jo Ann, Conn P Michael

Abstract excerpt

Fourteen mutations (13 missense and 1 truncation) of the GnRH receptor (GnRHR) have been identified in patients with hypogonadotropic hypogonadism (HH). We have previously shown that five of the missense mutations can be rescued with a GnRH peptidomimetic antagonist that acts as folding template, stabilizing (otherwise) misfolded GnRHR mutants and thereby restoring function. We now report that this approach...

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Source

Identifiers

PMID: 12364481
DOI: 10.1210/jc.2002-020961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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