| 1 | CCP110, CEP97, SALL1, TBS
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| Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
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| Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurđsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R.
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| Am J Hum Genet 102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017. 2018
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| 2 | SALL1, SALL4, TRIM21
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| Sal-like 4 protein levels in breast cancer cells are post-translationally down-regulated by tripartite motif-containing 21.
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| Itou J, Li W, Ito S, Tanaka S, Matsumoto Y, Sato F, Toi M.
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| J Biol Chem 293(17):6556-6564. doi: 10.1074/jbc.RA117.000245. Epub 2018 Mar 6.
2018
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| 3 | SALL1, TBS
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| Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
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| Liberalesso PBN, Cordeiro ML, Karuta SCV, Koladicz KRJ, Nitsche A, Zeigelboim BS, Raskin S, Rauchman M.
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| BMC Med Genet 18(1):125. doi: 10.1186/s12881-017-0483-7.
2017
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| 4 | SALL1, SIX2
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| A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation.
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| Basta JM, Robbins L, Denner DR, Kolar GR, Rauchman M.
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| Development 144(17):3080-3094. doi: 10.1242/dev.148692. Epub 2017 Jul 31.
2017
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| 5 | NRROS, SALL1
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| Mice deficient in NRROS show abnormal microglial development and neurological disorders.
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| Wong K, Noubade R, Manzanillo P, Ota N, Foreman O, Hackney JA, Friedman BA, Pappu R, Scearce-Levie K, Ouyang W.
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| Nat Immunol. Jun;18(6):633-641. doi: 10.1038/ni.3743. Epub 2017 May 1 2017
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| 6 | CSF1R, SALL1
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| Sall1 is a transcriptional regulator defining microglia identity and function.
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| Buttgereit A, Lelios I, Yu X, Vrohlings M, Krakoski NR, Gautier EL, Nishinakamura R, Becher B, Greter M.
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| Nat Immunol 17(12):1397-1406. doi: 10.1038/ni.3585. Epub 2016 Oct 24. Erratum in: Nat Immunol. 2017 Jan 19;18(2):246.
2016
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| 7 | SALL1
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| Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina.
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| Koso H, Tsuhako A, Lai CY, Baba Y, Otsu M, Ueno K, Nagasaki M, Suzuki Y, Watanabe S.
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| Glia 64(11):2005-24. doi: 10.1002/glia.23038. Epub 2016 Jul 26.
2016
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| 8 | SALL1
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| Sall1 transiently marks undifferentiated heart precursors and regulates their fate.
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| Morita Y, Andersen P, Hotta A, Tsukahara Y, Sasagawa N, Hayashida N, Koga C, Nishikawa M, Saga Y, Evans SM, Koshiba-Takeuchi K, Nishinakamura R, Yoshida Y, Kwon C, Takeuchi JK.
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| J Mol Cell Cardiol 92:158-62. doi: 10.1016/j.yjmcc.2016.02.008. Epub 2016 Feb 11.
2016
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| 9 | SALL1, TBS
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| A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
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| Hirsch S, El-Achkar T, Robbins L, Basta J, Heitmeier M, Nishinakamura R, Rauchman M.
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| Am J Physiol Renal Physiol 309(10):F852-63. doi: 10.1152/ajprenal.00222.2015. Epub 2015 Aug 26.
2015
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| 10 | SALL1, SIX2
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| Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor.
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| Kanda S, Tanigawa S, Ohmori T, Taguchi A, Kudo K, Suzuki Y, Sato Y, Hino S, Sander M, Perantoni AO, Sugano S, Nakao M, Nishinakamura R.
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| J Am Soc Nephrol 25(11):2584-95. doi: 10.1681/ASN.2013080896. Epub 2014 Apr 17.
2014
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| 11 | SALL1
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| Sall1 balances self-renewal and differentiation of renal progenitor cells.
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| Basta JM, Robbins L, Kiefer SM, Dorsett D, Rauchman M.
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| Development 141(5):1047-58. doi: 10.1242/dev.095851.
2014
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| 12 | SALL1, TBS
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| Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
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| Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Müller T, Repa A, Pollak A, Aufricht C, Wilkie AO, Janecke AR.
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| J Pediatr 162(3):612-7. doi: 10.1016/j.jpeds.2012.08.042. Epub 2012 Oct 12.
2013
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| 13 | SALL1, TBS
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| Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.
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| Harrison SJ, Nishinakamura R, Jones KR, Monaghan AP.
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| Dis Model Mech 5(3):351-65. doi: 10.1242/dmm.002873. Epub 2011 Dec 22.
2012
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| 14 | NANOG, SALL1
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| Sall1 regulates embryonic stem cell differentiation in association with nanog.
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| Karantzali E, Lekakis V, Ioannou M, Hadjimichael C, Papamatheakis J, Kretsovali A.
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| J Biol Chem 286(2):1037-45. doi: 10.1074/jbc.M110.170050. Epub 2010 Nov 9.
2011
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| 15 | SALL1
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| Sall1-dependent signals affect Wnt signaling and ureter tip fate to initiate kidney development.
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| Kiefer SM, Robbins L, Stumpff KM, Lin C, Ma L, Rauchman M.
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| Development 137(18):3099-106. Epub 2010 Aug 11.PMID: 20702564 2010
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| 16 | SALL1
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| Sumoylation modulates the activity of Spalt-like proteins during wing development in Drosophila.
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| Sánchez J, Talamillo A, Lopitz-Otsoa F, Pérez C, Hjerpe R, Sutherland JD, Herboso L, Rodríguez MS, Barrio R.
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| J Biol Chem 285(33):25841-9. Epub 2010 Jun 18.PMID: 20562097 2010
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| 17 | KIF26B, SALL1
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| Kif26b, a kinesin family gene, regulates adhesion of the embryonic kidney mesenchyme.
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| Uchiyama Y, Sakaguchi M, Terabayashi T, Inenaga T, Inoue S, Kobayashi C, Oshima N, Kiyonari H, Nakagata N, Sato Y, Sekiguchi K, Miki H, Araki E, Fujimura S, Tanaka SS, Nishinakamura R.
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| Proc Natl Acad Sci U S A 107(20):9240-5. Epub 2010 May 3.PMID: 20439720 2010
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| 18 | SALL1
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| Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A.
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| Yamamoto C, Fukuda N, Matsumoto T, Higuchi T, Ueno T, Matsumoto K.
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| Hypertens Res 33(2):143-8. Epub 2009 Nov 27.PMID: 19942929 2010
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| 19 | SALL1, TBS
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| Phenotypic variability in a family with Townes-Brocks syndrome.
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| Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K.
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| J Hum Genet 55(8):550-1. Epub 2010 Jun 3.PMID: 20520617 2010
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| 20 | SALL1, TBS
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| Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.
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| van den Akker PC, van de Graaf R, Dooijes D, van Essen AJ.
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| Am J Med Genet A 149A(4):812-5. No abstract available. PMID: 19291771 2009
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| 21 | SALL1
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| Sall genes regulate region-specific morphogenesis in the mouse limb by modulating Hox activities.
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| Kawakami Y, Uchiyama Y, Rodriguez Esteban C, Inenaga T, Koyano-Nakagawa N, Kawakami H, Marti M, Kmita M, Monaghan-Nichols P, Nishinakamura R, Izpisua Belmonte JC.
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| Development 136(4):585-94.PMID: 19168674 2009
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| 22 | DEL16QO, SALL1
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| Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
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| Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG.
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| Clin Genet 74(5):469-75. Epub 2008 Sep 20. 2008
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| 23 | ADCY5, EFNA5, ERC2, GFPT2, GIPC2, GNA14, HSPA4L, MAGI1, MN1, MSX2, MYO5B, OCLN, RSPO1, SALL1, ZNF382
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| Genome-wide identification of aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia.
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| Kuang SQ, Tong WG, Yang H, Lin W, Lee MK, Fang ZH, Wei Y, Jelinek J, Issa JP, Garcia-Manero G.
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| Leukemia 22(8):1529-38. Epub 2008 Jun 5.PMID: 18528427 2008
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| 24 | SALL1, TBS
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| Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
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| Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J.
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| Hum Mutat 28(2):204-5. 2007
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| 25 | SALL1,TBS
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| Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
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| Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K.
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| Am J Med Genet A 143(10):1087-90. 2007
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| 26 | GBX2, SALL1
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| A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2.
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| Lauberth SM, Bilyeu AC, Firulli BA, Kroll KL, Rauchman M.
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| J Biol Chem 282(48):34858-68. Epub 2007 Sep 25.
2007
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| 27 | CHARGE, CHD7, DEL22Q11, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCJ, MYCN, ODED1, SALL1, TBS, TBX1, VACTERLH
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| Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
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| Shaw-Smith C.
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| J Med Genet 43(7):545-54. Epub 2005 Nov 18. Review. 2006
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| 28 | TBS, SALL1
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| SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
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| Bohm J, Munk-Schulenburg S, Felscher S, Kohlhase J.
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| Am J Med Genet A 140(18):1904-8. 2006
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| 29 | SALL1,SIX1
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| Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.
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| Chai L, Yang J, Di C, Cui W, Kawakami K, Lai R, Ma Y.
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| J Biol Chem 281(28):18918-26. Epub 2006 May 2. 2006
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| 30 | DEL16QO, SALL1, TBS
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| Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
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| Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J.
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| Hum Mutat 27(2):211-2. 2006
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| 31 | SALL1, TBS
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| Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.
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| Sato A, Kishida S, Tanaka T, Kikuchi A, Kodama T, Asashima M, Nishinakamura R.
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| Biochem Biophys Res Commun 319(1):103-13. 2004
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| 32 | SALL1, TBS
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| Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
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| Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M.
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| Hum Mol Genet 12(17):2221-7. Epub 2003 Jul 15. 2003
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| 33 | SALL1
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| SALL1 expression in the human pituitary-adrenal/gonadal axis.
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| Ma Y, Chai L, Cortez SC, Stopa EG, Steinhoff MM, Ford D, Morgan J, Maizel AL.
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| J Endocrinol 173(3):437-48. 2002
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| 34 | SALL1, TBS
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| Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
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| Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK.
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| Am J Med Genet 102(3):250-7. 2001
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| 35 | SALL1, TERF1
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| SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.
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| Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK.
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| Hum Mol Genet 10(26):3017-24. 2001
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| 36 | SALL1, TBS
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| Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
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| Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM.
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| J Med Genet 37(4):303-7. No abstract available. 2000
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| 37 | SALL1, TBS
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| Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.
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| Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C.
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| J Med Genet 37(5):389-92. No abstract available. 2000
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| 38 | SALL1, TBS
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| SALL1 mutations in townes-brocks syndrome and related disorders.
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| Kohlhase J.
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| Hum Mutat 16(6):460-6. 2000
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| 39 | SALL1, TBS
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| Molecular analysis of SALL1 mutations in townes-brocks syndrome.
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| Kohlhase J, et al.
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| Am J Hum Genet 64(2):435-45. 1999
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| 40 | SALL1, TBS
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| Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
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| Marlin S, et al.
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| Hum Mutat 14(5):377-386 1999
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| 41 | SALL1, TBS
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| Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
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| Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W.
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| Nat Genet 18(1):81-3. 1998
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| 42 | SALL1, SALL2
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| Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.
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| Kohlhase J, et al.
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| Genomics 38 : 291-298. 1996
|