120 related articles for article (PubMed ID: 23969157)
1. Functional analysis of the distal region of the third intracellular loop of PROKR2.
Zhou XT; Chen DN; Xie ZQ; Peng Z; Xia KD; Liu HD; Liu W; Su B; Li JD
Biochem Biophys Res Commun; 2013 Sep; 439(1):12-7. PubMed ID: 23969157
[TBL] [Abstract][Full Text] [Related]
2. PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
Monnier C; Dodé C; Fabre L; Teixeira L; Labesse G; Pin JP; Hardelin JP; Rondard P
Hum Mol Genet; 2009 Jan; 18(1):75-81. PubMed ID: 18826963
[TBL] [Abstract][Full Text] [Related]
3. Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.
Abreu AP; Noel SD; Xu S; Carroll RS; Latronico AC; Kaiser UB
Mol Endocrinol; 2012 Aug; 26(8):1417-27. PubMed ID: 22745195
[TBL] [Abstract][Full Text] [Related]
4. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW; Sidis Y; Zhang C; Quinton R; Plummer L; Pignatelli D; Hughes VA; Dwyer AA; Raivio T; Hayes FJ; Seminara SB; Huot C; Alos N; Speiser P; Takeshita A; Van Vliet G; Pearce S; Crowley WF; Zhou QY; Pitteloud N
J Clin Endocrinol Metab; 2008 Sep; 93(9):3551-9. PubMed ID: 18559922
[TBL] [Abstract][Full Text] [Related]
5. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
Abreu AP; Trarbach EB; de Castro M; Frade Costa EM; Versiani B; Matias Baptista MT; Garmes HM; Mendonca BB; Latronico AC
J Clin Endocrinol Metab; 2008 Oct; 93(10):4113-8. PubMed ID: 18682503
[TBL] [Abstract][Full Text] [Related]
6. Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.
Sarfati J; Dodé C; Young J
Front Horm Res; 2010; 39():121-132. PubMed ID: 20389090
[TBL] [Abstract][Full Text] [Related]
7. PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.
Zhao Y; Wu J; Jia H; Wang X; Zheng R; Jiang F; Chen DN; Chen Z; Li JD
FASEB J; 2019 Mar; 33(3):4538-4546. PubMed ID: 30576231
[TBL] [Abstract][Full Text] [Related]
8. Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.
Libri DV; Kleinau G; Vezzoli V; Busnelli M; Guizzardi F; Sinisi AA; Pincelli AI; Mancini A; Russo G; Beck-Peccoz P; Loche S; Crivellaro C; Maghnie M; Krausz C; Persani L; Bonomi M;
J Clin Endocrinol Metab; 2014 Mar; 99(3):E458-63. PubMed ID: 24276467
[TBL] [Abstract][Full Text] [Related]
9. Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
Sbai O; Monnier C; Dodé C; Pin JP; Hardelin JP; Rondard P
FASEB J; 2014 Aug; 28(8):3734-44. PubMed ID: 24830383
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.
Canto P; Munguía P; Söderlund D; Castro JJ; Méndez JP
J Androl; 2009; 30(1):41-5. PubMed ID: 18723471
[TBL] [Abstract][Full Text] [Related]
11. Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.
Sinisi AA; Asci R; Bellastella G; Maione L; Esposito D; Elefante A; De Bellis A; Bellastella A; Iolascon A
Hum Reprod; 2008 Oct; 23(10):2380-4. PubMed ID: 18596028
[TBL] [Abstract][Full Text] [Related]
12. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ; Zhang Q; Wang YQ; Yang GQ; Hong TP; Zhu DL; Yang JK; Ning G; Jin N; Chen K; Zang L; Wang AP; Du J; Wang XL; Yang LJ; Ba JM; Lv ZH; Dou JT; Mu YM
Exp Biol Med (Maywood); 2015 Nov; 240(11):1480-9. PubMed ID: 26031747
[TBL] [Abstract][Full Text] [Related]
13. The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
Hardelin JP; Dodé C
Sex Dev; 2008; 2(4-5):181-93. PubMed ID: 18987492
[TBL] [Abstract][Full Text] [Related]
14. Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress.
Song YB; Park SY; Park K; Hwang H; Carroll RS; Hsu VW; Kaiser UB
Proc Natl Acad Sci U S A; 2022 Feb; 119(8):. PubMed ID: 35173048
[TBL] [Abstract][Full Text] [Related]
15. A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X; Chen D; Zhao Y; Men M; Chen Z; Jiang F; Zheng R; Stamou MI; Plummer L; Balasubramanian R; Li JD
Hum Mol Genet; 2023 May; 32(10):1722-1729. PubMed ID: 36694982
[TBL] [Abstract][Full Text] [Related]
16. Functional significance of the BBXXB motif reversed present in the cytoplasmic domains of the human follicle-stimulating hormone receptor.
Timossi C; Ortiz-Elizondo C; Pineda DB; Dias JA; Conn PM; Ulloa-Aguirre A
Mol Cell Endocrinol; 2004 Aug; 223(1-2):17-26. PubMed ID: 15279907
[TBL] [Abstract][Full Text] [Related]
17. PROKR2 mutations in autosomal recessive Kallmann syndrome.
Tommiska J; Toppari J; Vaaralahti K; Känsäkoski J; Laitinen EM; Noisa P; Kinnala A; Niinikoski H; Raivio T
Fertil Steril; 2013 Mar; 99(3):815-8. PubMed ID: 23200691
[TBL] [Abstract][Full Text] [Related]
18. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé C; Teixeira L; Levilliers J; Fouveaut C; Bouchard P; Kottler ML; Lespinasse J; Lienhardt-Roussie A; Mathieu M; Moerman A; Morgan G; Murat A; Toublanc JE; Wolczynski S; Delpech M; Petit C; Young J; Hardelin JP
PLoS Genet; 2006 Oct; 2(10):e175. PubMed ID: 17054399
[TBL] [Abstract][Full Text] [Related]
19. Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Koika V; Varnavas P; Valavani H; Sidis Y; Plummer L; Dwyer A; Quinton R; Kanaka-Gantenbein C; Pitteloud N; Sertedaki A; Dacou-Voutetakis C; Georgopoulos NA
Gene; 2013 Mar; 516(1):146-51. PubMed ID: 23276709
[TBL] [Abstract][Full Text] [Related]
20. Kallmann syndrome with a Tyr113His PROKR2 mutation.
Ha JH; Lee S; Kim Y; Moon JI; Seo J; Jang JH; Cho EH; Kim JM; Rhee BD; Ko KS; Yoo SJ; Won JC
Medicine (Baltimore); 2017 Sep; 96(35):e7974. PubMed ID: 28858133
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]