Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bi-allelic variants inINSL3andRXFP2cause bilateral cryptorchidism and male infertility

19 May 2023

Abstract excerpt

STUDY QUESTION: What is the impact of variants in the genes INSL3 (Insulin Like 3) and RXFP2 (Relaxin Family Peptide Receptor 2), respectively, on cryptorchidism and male infertility? SUMMARY ANSWER: Bi-allelic loss-of-function (LoF) variants in INSL3 and RXFP2 result in bilateral cryptorchidism and male infertility, whereas heterozygous variant carriers are phenotypically unaffected. WHAT IS KNOWN ALREADY: The...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Pregnancy-related medical research
Share to Restless Legs Syndrome Research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37208861
DOI: 10.1093/humrep/dead105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic variants inINSL3andRXFP2cause bilateral cryptorchidism and male infertilityPMID 37208861Read ↗

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

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

INSL3/RXFP2 Signaling in Testicular DescentSemantic proximity Read ↗

Novel mutations involving the INSL3 gene associated with cryptorchidism.Semantic proximity Read ↗

The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism.Semantic proximity Read ↗

The molecular basis of cryptorchidism.Semantic proximity Read ↗

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.Semantic proximity Read ↗

Mutations in INSL3 and RXFP2 genes in cryptorchid boys.Semantic proximity Read ↗

Cryptorchidism in mice mutant for Insl3.Semantic proximity Read ↗

Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.