| 1 | CHNG2, LHX1, MDFH, MRKH, PAX8, WNT4
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| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
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| Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z. Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L.
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| Am J Hum Genet. Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. 2021
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| 2 | DKK1, LHX1, OTX2
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| Head formation: OTX2 regulates Dkk1 and Lhx1 activity in the anterior mesendoderm.
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| Ip CK, Fossat N, Jones V, Lamonerie T, Tam PP.
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| Development 141(20):3859-67. doi: 10.1242/dev.114900. Epub 2014 Sep 17.
2014
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| 3 | DEL17Q12, HNF1β, LHX1, MRKH
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| A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
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| Hinkes B, Hilgers KF, Bolz HJ, Goppelt-Struebe M, Amann K, Nagl S, Bergmann C, Rascher W, Eckardt KU, Jacobi J.
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| BMC Nephrol 13:27.
2012
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| 4 | LHX1, MRKH
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| Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
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| Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P.
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| Hum Reprod 27(9):2872-5. doi: 10.1093/humrep/des206. Epub 2012 Jun 26.
2012
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| 5 | LHX1
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| Lhx1 is required for specification of the renal progenitor cell field.
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| Cirio MC, Hui Z, Haldin CE, Cosentino CC, Stuckenholz C, Chen X, Hong SK, Dawid IB, Hukriede NA.
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| PLoS One 6(4):e18858.
2011
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| 6 | LHX1
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| LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma.
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| Dormoy V, Béraud C, Lindner V, Thomas L, Coquard C, Barthelmebs M, Jacqmin D, Lang H, Massfelder T.
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| Oncogene 30(15):1753-63. Epub 2010 Dec 6.
2011
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| 7 | DEL17Q12, HNF1B, LHX1, RCAD
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| Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
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| Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH.
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| Am J Hum Genet 87(5):618-30. Epub 2010 Nov 4.PMID: 21055719 2010
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| 8 | LHX1
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| Loss of Lhx1 activity impacts on the localization of primordial germ cells in the mouse.
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| Tanaka SS, Yamaguchi YL, Steiner KA, Nakano T, Nishinakamura R, Kwan KM, Behringer RR, Tam PP.
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| Dev Dyn 239(11):2851-9.
2010
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| 9 | ARX, DLX1, DLX2, EMX1, EMX2, GSX2, LHX1, LHX5, LHX2, LHX6, LHX8, NKX2-1, OTX1, OTX2, PAX6
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| Homeobox genes in vertebrate forebrain development and disease.
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| Wigle JT, Eisenstat DD.
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| Clin Genet 73(3):212-26. Epub 2008 Jan 31. Review. 2008
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| 10 | LDB1, LHX1, LHX5
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| LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, control Purkinje cell differentiation in the developing cerebellum.
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| Zhao Y, Kwan KM, Mailloux CM, Lee WK, Grinberg A, Wurst W, Behringer RR, Westphal H.
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| Proc Natl Acad Sci U S A 104(32):13182-6. Epub 2007 Jul 30. 2007
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| 11 | LHX1
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| Lim1 is essential for the correct laminar positioning of retinal horizontal cells.
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| Poché RA, Kwan KM, Raven MA, Furuta Y, Reese BE, Behringer RR.
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| J Neurosci 27(51):14099-107.
2007
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| 12 | LHX1
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| Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development.
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| Kobayashi A, Kwan KM, Carroll TJ, McMahon AP, Mendelsohn CL, Behringer RR.
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| Development 132(12):2809-23.
2005
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| 13 | LHX1
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| Conserved requirement of Lim1 function for cell movements during gastrulation.
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| Hukriede NA, Tsang TE, Habas R, Khoo PL, Steiner K, Weeks DL, Tam PP, Dawid IB.
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| Dev Cell 4(1):83-94.
2003
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| 14 | LHX1
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| Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.
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| Dong WF, Heng HH, Lowsky R, Xu Y, DeCoteau JF, Shi XM, Tsui LC, Minden MD.
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| DNA Cell Biol 16(6):671-8. 1997
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