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3. The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. Dunn IC, Paton IR, Clelland AK, Sebastian S, Johnson EJ, McTeir L, Windsor D, Sherman A, Sang H, Burt DW, Tickle C, Davey MG. Dev Dyn; 2011 May; 240(5):1163-72. PubMed ID: 21465618 [Abstract] [Full Text] [Related]
6. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Hum Mutat; 2010 Jan; 31(1):81-9. PubMed ID: 19847792 [Abstract] [Full Text] [Related]
10. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P. Genet Med; 2020 Jan; 22(1):189-198. PubMed ID: 31395945 [Abstract] [Full Text] [Related]
13. Etv2 regulates enhancer chromatin status to initiate Shh expression in the limb bud. Koyano-Nakagawa N, Gong W, Das S, Theisen JWM, Swanholm TB, Van Ly D, Dsouza N, Singh BN, Kawakami H, Young S, Chen KQ, Kawakami Y, Garry DJ. Nat Commun; 2022 Jul 21; 13(1):4221. PubMed ID: 35864091 [Abstract] [Full Text] [Related]
15. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X. J Med Genet; 2008 Sep 21; 45(9):589-95. PubMed ID: 18417549 [Abstract] [Full Text] [Related]
16. Aberrant FGF signaling, independent of ectopic hedgehog signaling, initiates preaxial polydactyly in Dorking chickens. Bouldin CM, Harfe BD. Dev Biol; 2009 Oct 01; 334(1):133-41. PubMed ID: 19616534 [Abstract] [Full Text] [Related]
19. Differential response of Shh expression between chick forelimb and hindlimb buds by FGF-4. Wada N, Nohno T. Dev Dyn; 2001 Aug 01; 221(4):402-11. PubMed ID: 11500977 [Abstract] [Full Text] [Related]