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Items: 1 to 20 of 126


The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Petit F, Jourdain AS, Holder-Espinasse M, Keren B, Andrieux J, Duterque-Coquillaud M, Porchet N, Manouvrier-Hanu S, Escande F.

Eur J Hum Genet. 2016 Jan;24(1):37-43. doi: 10.1038/ejhg.2015.53. Epub 2015 Mar 18.


GATA6 is a crucial regulator of Shh in the limb bud.

Kozhemyakina E, Ionescu A, Lassar AB.

PLoS Genet. 2014 Jan;10(1):e1004072. doi: 10.1371/journal.pgen.1004072. Epub 2014 Jan 9.


Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly.

Lettice LA, Hill AE, Devenney PS, Hill RE.

Hum Mol Genet. 2008 Apr 1;17(7):978-85. Epub 2007 Dec 21.


Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.

Babbs C, Furniss D, Morriss-Kay GM, Wilkie AO.

Mech Dev. 2008 May-Jun;125(5-6):517-26. doi: 10.1016/j.mod.2008.01.001. Epub 2008 Jan 11.


Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB.

Am J Med Genet A. 2007 Jan 1;143A(1):27-32.


A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M.

Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.


Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh.

Amano T, Sagai T, Seki R, Shiroishi T.

G3 (Bethesda). 2017 Sep 7;7(9):2991-2998. doi: 10.1534/g3.117.044669.


Direct functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly.

Johnson EJ, Neely DM, Dunn IC, Davey MG.

Dev Biol. 2014 Aug 15;392(2):209-20. doi: 10.1016/j.ydbio.2014.05.025. Epub 2014 Jun 5.


Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling.

Yang Y, Guillot P, Boyd Y, Lyon MF, McMahon AP.

Development. 1998 Aug;125(16):3123-32.


A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E.

Hum Mol Genet. 2003 Jul 15;12(14):1725-35.


Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly.

Lettice LA, Williamson I, Wiltshire JH, Peluso S, Devenney PS, Hill AE, Essafi A, Hagman J, Mort R, Grimes G, DeAngelis CL, Hill RE.

Dev Cell. 2012 Feb 14;22(2):459-67. doi: 10.1016/j.devcel.2011.12.010.


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. doi: 10.1002/humu.21142.


FGF-regulated Etv genes are essential for repressing Shh expression in mouse limb buds.

Zhang Z, Verheyden JM, Hassell JA, Sun X.

Dev Cell. 2009 Apr;16(4):607-13. doi: 10.1016/j.devcel.2009.02.008.


Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly.

Rao C, Chen J, Peng Q, Mo Q, Xia X, Lu X.

Genet Test Mol Biomarkers. 2018 Sep;22(9):577-581. doi: 10.1089/gtmb.2018.0096.


Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.

Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH, Zhang YP.

Eur J Hum Genet. 2009 May;17(5):604-10. doi: 10.1038/ejhg.2008.240. Epub 2008 Dec 10.


Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop.

Knezevic V, De Santo R, Schughart K, Huffstadt U, Chiang C, Mahon KA, Mackem S.

Development. 1997 Nov;124(22):4523-36.


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;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.


Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Lohan S, Spielmann M, Doelken SC, Fl├Âttmann R, Muhammad F, Baig SM, Wajid M, H├╝lsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E.

Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17.


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