| 1 | C2CD3, DDX59, IFT57, INTU, OFD1, OFD14, OFD16, OFD5, TMEM107
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| Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
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| Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.
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| J Med Genet 54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Review.
2017
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| 2 | CEP131, ERC1, MYH10, MYH14, MYH9, OFD1, RABEP2, SDCCAG8
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| SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
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| Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F.
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| PLoS One 11(5):e0156081. doi: 10.1371/journal.pone.0156081. eCollection 2016.
2016
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| 3 | BBS4, OFD1
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| Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
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| Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
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| J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print]
2014
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| 4 | BBS4, OFD1
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| Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
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| Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
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| J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print]
2014
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| 5 | BBS4, OFD1
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| Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
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| Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q.
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| Nature 502(7470):254-7. doi: 10.1038/nature12606. Epub 2013 Oct 2.
2013
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| 6 | OFD1
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| Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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| Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.
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| Hum Mutat 34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
2013
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| 7 | OFD1
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| Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.
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| D'Angelo A, De Angelis A, Avallone B, Piscopo I, Tammaro R, Studer M, Franco B.
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| PLoS One 7(12):e52937. doi: 10.1371/journal.pone.0052937. Epub 2012 Dec 27.
2012
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| 8 | OFD1, RP23
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| Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
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| Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ.
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| Hum Mol Genet 21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
2012
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| 9 | FAM161A, LCA5, OFD1, SDCCAG8
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| FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
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| Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C.
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| Hum Mol Genet 21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
2012
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| 10 | OFD1
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| Ofd1 is required in limb bud patterning and endochondral bone development.
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| Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B.
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| Dev Biol 349(2):179-91. Epub 2010 Oct 14.
2011
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| 11 | OFD1
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| The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
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| Hunkapiller J, Singla V, Seol A, Reiter JF.
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| Stem Cells Dev 20(5):831-41. doi: 10.1089/scd.2010.0362. Epub 2010 Nov 30.
2011
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| 12 | OFD1
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| Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
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| Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B.
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| Hum Mol Genet 19(14):2792-803. Epub 2010 May 5.PMID: 20444807 2010
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| 13 | JBTS10, LCA5, OFD1, SGBS2
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| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
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| Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP.
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| Am J Hum Genet 85(4):465-81. 2009
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| 14 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 15 | OFD1
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| Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
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| Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
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| Hum Mutat 29(10):1237-46.
2008
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| 16 | OFD1, RUVBL1
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| Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.
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| Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B.
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| Mol Biol Cell 18(11):4397-404. Epub 2007 Aug 29.
2007
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| 17 | OFD1
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| Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
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| Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Heron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L.
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| J Med Genet 43(1):54-61. 2006
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| 18 | OFD1, IFT172, IFT88
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| Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
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| Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B.
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| Nat Genet 38(1):112-7. Epub 2005 Nov 27. 2006
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| 19 | OFD1, SGBS2
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| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
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| Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH.
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| Hum Genet 120(2):171-8. Epub 2006 Jun 17.
2006
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| 20 | OFD1
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| Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
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| Morisawa T, Yagi M, Surono A, Yokoyama N, Ohmori M, Terashi H, Matsuo M.
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| Hum Genet 115(2):97-103. Epub 2004 Jun 02. 2004
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| 21 | OFD1
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| OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
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| Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA.
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| J Am Soc Nephrol 15(10):2556-68. 2004
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| 22 | OFD1, OFD1P1, OFDYP6
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| Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
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| Ferrante MI, Barra A, Truong JP, Banfi S, Disteche CM, Franco B.
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| Genomics 81(6):560-9. 2003
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| 23 | OFD1
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| Identification of the gene for oral-facial-digital type I syndrome.
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| Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B.
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| Am J Hum Genet 68(3):569-76. 2001
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| 24 | MKLN1, OFD1, TAF5, TBL1X, TCOF1
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| A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.
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| Emes RD, Ponting CP.
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| Hum Mol Genet 10(24):2813-20. 2001
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| 25 | CYorf1, CYorf5, OFD1, OFD1P1
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| Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
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| de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, MarianiM, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S.
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| Genomics 51(2):243-50. 1998
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| 26 | OFD1
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| The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
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| Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.
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| Hum Mol Genet 6(7):1163-7. 1997
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