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Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

Human Reproduction
Abstract STUDY QUESTION Does RXFP2 disruption impair male fertility? SUMMARY ANSWER We identified biallelic variants in RXFP2 in patients with male infertility due to spermatogenic arrest at the spermatid stage, supporting a role of ...
Hannes Syryn   +10 more
openaire   +2 more sources

Regulation of Rxfp2 (Lgr8) Expression in the Mouse Fetal Kidney by the Transcription Factor Pod1 (Tcf 21)

Annals of the New York Academy of Sciences, 2009
Rxfp2 is present in putative mesangial cells at embryonic stage 18 (E18) in the rat kidney, suggesting that insulin‐like peptide 3 is involved in glomerulogenesis. One of the main regulatory factors in glomerulogenesis is the basic helix‐loop‐helix transcription factor Pod1.
Mary Familari, Laura J. Parry
exaly   +3 more sources

Expression pattern of zebrafish rxfp2 homologue genes during embryonic development

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, 2015
ABSTRACTRXFP2 is one of the 4 receptors for relaxin insulin‐like peptides, in particular it binds with high affinity the INSL3 peptide. INSL3/RXFP2 pair is essential for testicular descent during placental mammalian development. The evolutionary history of this ligand/receptor pair has received much attention, since its function in vertebrate species ...
DONIZETTI, ALDO   +6 more
openaire   +4 more sources

Bi-allelic variants inINSL3andRXFP2cause bilateral cryptorchidism and male infertility

Human Reproduction, 2023
AbstractSTUDY QUESTIONWhat 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 ANSWERBi-allelic loss-of-function (LoF) variants in INSL3 and RXFP2 result in bilateral cryptorchidism and male infertility, whereas heterozygous variant ...
Ann-Kristin Dicke   +13 more
openaire   +3 more sources

Characterisation of the signalling pathways of the relaxin family peptpide receptors, RXFP1 and RXFP2

2021
Winner of the Mollie Holman Doctoral Medal for Excellence. Two orphan leucine-rich repeat-containing G protein-coupled receptors were recently identified as targets for the relaxin family peptides relaxin and insulin-like peptide (INSL) 3. Relaxin is the cognate ligand for relaxin family peptide receptor (RXFP) 1, whereas INSL3 is the ligand for RXFP2.
openaire   +1 more source

Expression and localization of RLF/ INSL3 receptor RXFP2 in boar testes

Italian Journal of Anatomy and Embryology, 2014
This study investigated the possibility of the presence of specific receptor for relaxin-like factor (RLF)/insulin-like peptide 3 (INSL3) in boar testes. While RLF/INSL3 was produced by Leydig cells in the boar testis, its own receptor RXFP2 was expressed mainly in meiotic and post-meiotic germ cells, but not in Leydig cells, suggesting the existence ...
Tetsuya, Kohsaka   +10 more
openaire   +2 more sources

An insight into testis and gubernaculum dynamics of INSL3–RXFP2 signalling during testicular descent in the dog

Reproduction, Fertility and Development, 2010
Insulin-like 3 (INSL3) plays a prominent role in male development and is supposed to induce the growth of the gubernaculum testis (g.t.), thus being directly involved in testicular descent in humans and rodents. This happens through activation of the RXFP2 receptor (GREAT or LGR8). The INSL3–RXFP2 complex is reputed to play an additional paracrine role
Arrighi S.   +4 more
openaire   +2 more sources

Relaxin Family Peptide Receptors RXFP1 and RXFP2 Modulate cAMP Signaling by Distinct Mechanisms

Molecular Pharmacology, 2006
Two orphan leucine-rich repeat-containing G protein-coupled receptors were recently identified as targets for the relaxin family peptides relaxin and insulin-like peptide (INSL) 3. Human gene 2 relaxin is the cognate ligand for relaxin family peptide receptor (RXFP) 1, whereas INSL3 is the ligand for RXFP2.
Michelle L, Halls   +2 more
openaire   +2 more sources

Prolonged RXFP1 and RXFP2 signaling can be explained by poor internalization and a lack of β-arrestin recruitment

American Journal of Physiology-Cell Physiology, 2009
Relaxin induces sustained physiological responses, which brings into question the deactivation processes typical of most G protein-coupled receptors (GPCR) for its receptor, relaxin family peptide receptor 1 (RXFP1). Here, we examined relaxin-dependent phosphorylation of RXFP1 and the related insulin-like peptide 3 (INSL3) receptor, RXFP2, as well as ...
Callander, Gabrielle E.   +2 more
openaire   +5 more sources

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