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Article

Mutations in the insulin-like factor 3 receptor are associated with osteoporosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2008

Ferlin Alberto, Pepe Anastasia, Gianesello Lisa, Garolla Andrea, Feng Shu, Giannini Sandro, Zaccolo Manuela, Facciolli Arianna, Morello Roy, Agoulnik Alexander I, Foresta Carlo

Abstract excerpt

INTRODUCTION: Insulin-like factor 3 (INSL3) is produced primarily by testicular Leydig cells. It acts by binding to its specific G protein-coupled receptor RXFP2 (relaxin family peptide 2) and is involved in testicular descent during fetal development. The physiological role of INSL3 in adults is not known, although substantial INSL3 circulating levels are present. The aim of this study was to verify whether...

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Identifiers

PMID: 18433302
DOI: 10.1359/jbmr.080204
PMCID: PMC2674542

Genes

INSL3
RXFP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the insulin-like factor 3 receptor are associated with osteoporosis.PMID 18433302Read ↗

New roles for INSL3 in adults.Semantic proximity Read ↗

Insulin-like peptide 3 (INSL3) is a major regulator of female reproductive physiologySemantic proximity Read ↗

INSL3/RXFP2 Signaling in Testicular DescentSemantic proximity Read ↗

Bi-allelic variants inINSL3andRXFP2cause bilateral cryptorchidism and male infertilitySemantic proximity Read ↗

Developmental Expression and Gene Regulation of Insulin-like 3 Receptor RXFP2 in Mouse Male Reproductive Organs1Semantic proximity Read ↗

Negative Association Between Sclerostin and INSL3 in Isolated Human Osteocytes and in Klinefelter Syndrome: New Hints for Testis–Bone CrosstalkSemantic proximity Read ↗

Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization.Semantic proximity Read ↗

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.Semantic proximity Read ↗

Insulin-Like 3 Signaling Is Important for Testicular Descent but Dispensable for Spermatogenesis and Germ Cell Survival in Adult Mice1Semantic proximity Read ↗

INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent.Semantic proximity Read ↗

The Orphan Nuclear Receptor NR4A1 Regulates Insulin-Like 3 Gene Transcription in Leydig Cells1Semantic proximity Read ↗

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2Semantic proximity Read ↗

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