| Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility. | Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
Dicke AK, Albrethsen J, Hoare BL, Wyrwoll MJ, Busch AS, Fietz D, Pilatz A, Bühlmann C, Juul A, Kliesch S, Gromoll J, Bathgate RAD, Tüttelmann F, Stallmeyer B. | 07/10/2023 |
| Structural Insights into the Unique Modes of Relaxin-Binding and Tethered-Agonist Mediated Activation of RXFP1 and RXFP2. | Structural Insights into the Unique Modes of Relaxin-Binding and Tethered-Agonist Mediated Activation of RXFP1 and RXFP2.
Sethi A, Bruell S, Ryan T, Yan F, Tanipour MH, Mok YF, Draper-Joyce C, Khandokar Y, Metcalfe RD, Griffin MDW, Scott DJ, Hossain MA, Petrie EJ, Bathgate RAD, Gooley PR. | 11/27/2021 |
| Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3. | Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3.
Shokri S, Tavalaee M, Ebrahimi SM, Ziaeipour S, Nasr-Esfahani MH, Nejatbakhsh R. | 08/7/2021 |
| Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling. | Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling.
Suteau V, Briet C, Lebeault M, Gourdin L, Henrion D, Rodien P, Munier M. | 11/28/2020 |
| Recessive variants in the RXFP2 gene underlie familial cryptorchidism. | Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.
Ayers K, Kumar R, Robevska G, Bruell S, Bell K, Malik MA, Bathgate RA, Sinclair A., Free PMC Article | 06/20/2020 |
| In the TMD discovery cohort, sex-stratified analysis identified 2 additional genome-wide significant loci in females. One lying upstream of the relaxin/insulin-like family peptide receptor 2 ( RXP2) (chromosome 13, rs60249166,[OR] = 0.65, P = 3.6 x 10(-8)) was replicated among females in the meta-analysis (1-tailed P = 0.052). The other (chromosome 17, rs1531554, OR = 0.68, P = 2.9 x 10(-8)) was replicated among f | GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
Sanders AE, Jain D, Sofer T, Kerr KF, Laurie CC, Shaffer JR, Marazita ML, Kaste LM, Slade GD, Fillingim RB, Ohrbach R, Maixner W, Kocher T, Bernhardt O, Teumer A, Schwahn C, Sipilä K, Lähdesmäki R, Männikkö M, Pesonen P, Järvelin M, Rizzatti-Barbosa CM, Meloto CB, Ribeiro-Dasilva M, Diatchenko L, Serrano P, Smith SB., Free PMC Article | 06/3/2017 |
| Mapping key regions of the RXFP2 low-density lipoprotein class-A module that are involved in signal activation. | Mapping key regions of the RXFP2 low-density lipoprotein class-A module that are involved in signal activation.
Kong RC, Bathgate RA, Bruell S, Wade JD, Gooley PR, Petrie EJ. | 09/13/2014 |
| Findings suggest a novel and gender-specific role for INSL3 and cognate receptor RXFP2 signaling in ocular surface homeostasis. | Insulin-like factor 3 promotes wound healing at the ocular surface.
Hampel U, Klonisch T, Sel S, Schulze U, Garreis F, Seitmann H, Zouboulis CC, Paulsen FP. | 07/27/2013 |
| These results provide new mechanistic insights into the binding and activation events of RXFP1 and RXFP2 by their native hormone ligands. | The different ligand-binding modes of relaxin family peptide receptors RXFP1 and RXFP2.
Scott DJ, Rosengren KJ, Bathgate RA., Free PMC Article | 04/20/2013 |
| Identification of key residues essential for the structural fold and receptor selectivity within the A-chain of human gene-2 (H2) relaxin | Identification of key residues essential for the structural fold and receptor selectivity within the A-chain of human gene-2 (H2) relaxin.
Chan LJ, Rosengren KJ, Layfield SL, Bathgate RA, Separovic F, Samuel CS, Hossain MA, Wade JD., Free PMC Article | 02/9/2013 |
| relaxin-2 and its receptors RXFP1 and RXFP2 are expressed in GSV and their expression is significantly decreased in varicose GSV | A novel role for relaxin-2 in the pathogenesis of primary varicosis.
Adams J, Schott S, Bern A, Renz M, Ikenberg K, Garbe C, Busch C., Free PMC Article | 12/22/2012 |
| haplotype analysis of the RXFP2 gene in T222P carriers and their parents showed that this variant is linked to the previously inferred C-C-G-A-13 haplotype and consequently provides further support to the 'founder effect' hypothesis | Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.
Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C, Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C. | 11/19/2011 |
| higher expression of LGR8 may facilitate tumor invasiveness in the early clinical stage of hepatocellular carcinoma. | Expression of LGR8 and related biomarkers in hepatocellular carcinoma: correlation with clinicopathological parameters.
Lin CK, Jin JS, Yu CP, Tsai WC. | 09/10/2011 |
| Data show that synthetic parallel dimer of the B-chain of INSL3 is a potent inhibitor of the native peptide's binding to its receptor, RXFP2. | Design and development of analogues of dimers of insulin-like peptide 3 B-chain as high-affinity antagonists of the RXFP2 receptor.
Shabanpoor F, Zhang S, Hughes RA, Hossain MA, Layfield S, Ferraro T, Bathgate RA, Separovic F, Wade JD. | 07/2/2011 |
| The apparent lack of classical regulation for RXFP1 and RXFP2 provides the molecular basis for the prolonged signaling and physiological actions of relaxin and related peptides | Prolonged RXFP1 and RXFP2 signaling can be explained by poor internalization and a lack of beta-arrestin recruitment.
Callander GE, Thomas WG, Bathgate RA. | 01/21/2010 |
| Data link RXFP2 gene mutations with human osteoporosis. | New roles for INSL3 in adults.
Ferlin A, Pepe A, Gianesello L, Garolla A, Feng S, Facciolli A, Morello R, Agoulnik AI, Foresta C. | 01/21/2010 |
| This study confirmed the association between INSL3 and RXFP2 gene mutations and human cryptorchidism. | Mutations in INSL3 and RXFP2 genes in cryptorchid boys.
Ferlin A, Zuccarello D, Garolla A, Selice R, Vinanzi C, Ganz F, Zanon GF, Zuccarello B, Foresta C, Ferlin A, Zuccarello D, Garolla A, Selice R, Vinanzi C, Ganz F, Zanon GF, Zuccarello B, Foresta C. | 01/21/2010 |
| Several missense mutations were described in both the INSL3 and RXFP2 genes and a novel V39G INSL3 mutation in a patient with cryptorchidism was identified | INSL3/RXFP2 signaling in testicular descent.
Feng S, Ferlin A, Truong A, Bathgate R, Wade JD, Corbett S, Han S, Tannour-Louet M, Lamb DJ, Foresta C, Agoulnik AI., Free PMC Article | 01/21/2010 |
| relaxin binds with high affinity to the leucine-rich repeats of RXFP2 in a manner similar to INSL3 binding to its receptor | Modeling the primary hormone-binding site of RXFP1 and RXFP2.
Scott DJ, Tregear GW, Bathgate RA. | 01/21/2010 |
| Ligand-mediated activation of RXFP1 and RXFP2 is a complex process involving various domains of the receptors | Resolving the unconventional mechanisms underlying RXFP1 and RXFP2 receptor function.
Hartley BJ, Scott DJ, Callander GE, Wilkinson TN, Ganella DE, Kong CK, Layfield S, Ferraro T, Petrie EJ, Bathgate RA. | 01/21/2010 |
| No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population | No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population.
El Houate B, Rouba H, Imken L, Sibai H, Chafik A, Boulouiz R, Chadli E, Hassar M, McElreavey K, Barakat A. | 01/21/2010 |
| analysis of truncated human relaxin-2 and -3 (H2 and H3) relaxin peptides and their binding and cAMP activities on RXFP1, RXFP2, and RXFP3 | The A-chain of human relaxin family peptides has distinct roles in the binding and activation of the different relaxin family peptide receptors.
Hossain MA, Rosengren KJ, Haugaard-Jönsson LM, Zhang S, Layfield S, Ferraro T, Daly NL, Tregear GW, Wade JD, Bathgate RA. | 01/21/2010 |
| negative cooperativity is present and that INSL3-RXFP2 binding shows both similarities and differences with insulin binding to the insulin receptor | Cooperative binding of insulin-like Peptide 3 to a dimeric relaxin family peptide receptor 2.
Svendsen AM, Vrecl M, Ellis TM, Heding A, Kristensen JB, Wade JD, Bathgate RA, De Meyts P, Nøhr J. | 01/21/2010 |
| T222P mutation cannot be considered either causative or a susceptibility factor for cryptorchidism. | The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism.
Nuti F, Marinari E, Erdei E, El-Hamshari M, Echavarria MG, Ars E, Balercia G, Merksz M, Giachini C, Shaeer KZ, Forti G, Ruiz-Castané E, Krausz C, Nuti F, Marinari E, Erdei E, El-Hamshari M, Echavarria MG, Ars E, Balercia G, Merksz M, Giachini C, Shaeer KZ, Forti G, Ruiz-Castané E, Krausz C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesFurther insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations.
Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C, Ars E, Lo Giacco D, Bassas L, Nuti F, Rajmil O, Ruíz P, Garat JM, Ruiz-Castané E, Krausz C. Mutations in INSL3 and RXFP2 genes in cryptorchid boys.
Ferlin A, Zuccarello D, Garolla A, Selice R, Vinanzi C, Ganz F, Zanon GF, Zuccarello B, Foresta C, Ferlin A, Zuccarello D, Garolla A, Selice R, Vinanzi C, Ganz F, Zanon GF, Zuccarello B, Foresta C. Genetic alterations associated with cryptorchidism.
Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, Foresta C. The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism.
Nuti F, Marinari E, Erdei E, El-Hamshari M, Echavarria MG, Ars E, Balercia G, Merksz M, Giachini C, Shaeer KZ, Forti G, Ruiz-Castané E, Krausz C, Nuti F, Marinari E, Erdei E, El-Hamshari M, Echavarria MG, Ars E, Balercia G, Merksz M, Giachini C, Shaeer KZ, Forti G, Ruiz-Castané E, Krausz C. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism.
Yamazawa K, Wada Y, Sasagawa I, Aoki K, Ueoka K, Ogata T. Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism.
Roh J, Virtanen H, Kumagai J, Sudo S, Kaleva M, Toppari J, Hsueh AJ. | 03/13/2008 |