1 | LGR6, RSPO1, RSPO2, RSPO3, RSPO4
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| LGR6 is a potential diagnostic and prognostic marker for esophageal squamous cell carcinoma.2020
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| Chai T, Shen Z, Zhang Z, Chen S, Gao L, Zhang P, Lin W, Kang M, Lin J.
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| J Clin Lab Anal. Apr;34(4):e23121. doi: 10.1002/jcla.23121. Epub 2020 Jan 9 2021
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2 | LGR4, LGR5, LGR6, RSPO1, RSPO2, RSPO3, RSPO4
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| R-spondins function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/beta-catenin signaling.
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| Carmon KS, Gong X, Lin Q, Thomas A, Liu Q.
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| Proc Natl Acad Sci U S A 108(28):11452-7. Epub 2011 Jun 21.
2011
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3 | LGR4, LGR5, LGR6, RSPO1, RSPO2, RSPO3, RSPO4
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| Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling.
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| de Lau W, Barker N, Low TY, Koo BK, Li VS, Teunissen H, Kujala P, Haegebarth A, Peters PJ, van de Wetering M, Stange DE, van Es JE, Guardavaccaro D, Schasfoort RB, Mohri Y, Nishimori K, Mohammed S, Heck AJ, Clevers H.
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| Nature 476(7360):293-7. doi: 10.1038/nature10337.
2011
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4 | RSPO1, RSPO2, RSPO3, RSPO4
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| Loss-of-function point mutations and two-furin domain derivatives provide insights about R-spondin2 structure and function.
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| Li SJ, Yen TY, Endo Y, Klauzinska M, Baljinnyam B, Macher B, Callahan R, Rubin JS.
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| Cell Signal ell Signal. 2009 Feb 6. [Epub ahead of print]
2009
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5 | RSPO1, RSPO2, RSPO3, RSPO4
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| R-Spondin family members regulate the Wnt pathway by a common mechanism.
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| Kim KA, Wagle M, Tran K, Zhan X, Dixon MA, Liu S, Gros D, Korver W, Yonkovich S, Tomasevic N, Binnerts M, Abo A.
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| Mol Biol Cell 19(6):2588-96. Epub 2008 Apr 9.
2008
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6 | ANYC, RSPO4
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| A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
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| Chishti MS, Kausar N, Rafiq MA, Amin M, Ahmad W.
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| Br J Dermatol 158(3):621-3. Epub 2007 Dec 6. No abstract available.
2008
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7 | ANYC, RSPO4
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| Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
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| Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK, Kelsell DP, Christiano AM.
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| J Invest Dermatol 128(4):867-70. Epub 2007 Sep 6.
2008
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8 | ANYC, RSPO4
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| RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
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| Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C.
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| J Invest Dermatol 128(4):791-6. Epub 2007 Oct 4.PMID: 17914448 [ 2008
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9 | RSPO4, ANYC
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| The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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| Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP.
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| Nat Genet 38(11):1245-7. Epub 2006 Oct 15. 2006
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10 | RSPO4, ANYC, DBA3, RPS24
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| Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
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| Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA.
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| Am J Hum Genet 79(6):1110-8. Epub 2006 Nov 2. 2006
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11 | RSPO1, RSPO2, RSPO3, RSPO4
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| R-Spondin proteins: a novel link to beta-catenin activation.
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| Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, Abo A, Tomizuka K, Funk WD.
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| Cell Cycle 5(1):23-6. Epub 2006 Jan 8.
2006
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12 | ANYC, RSPO4
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| Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
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| Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nürnberg G, Schild HH, Nürnberg P, Reis A, Frank J, Zerres K.
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| Am J Hum Genet 79(6):1105-9. Epub 2006 Oct 17.
2006
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13 | RSPO2, RSPO4
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| R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for Xenopus myogenesis.
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| Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W.
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| Dev Cell 7(4):525-34. 2004
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