Citations for
1C2CD3, DDX59, IFT57, INTU, OFD1, OFD14, OFD16, OFD5, TMEM107
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
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.
J Med Genet 54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. Review. 2017
2FOPNL, KIAA0753, OFD1
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C.
Hum Mol Genet 25(3):497-513. doi: 10.1093/hmg/ddv488. Epub 2015 Dec 7. 2016
3CEP131, ERC1, MYH10, MYH14, MYH9, OFD1, RABEP2, SDCCAG8
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F.
PLoS One 11(5):e0156081. doi: 10.1371/journal.pone.0156081. eCollection 2016. 2016
4BBS4, OFD1
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print] 2014
5BBS4, OFD1
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
J Clin Invest Clin Invest. 2014 Apr 1. pii: 71898. doi: 10.1172/JCI71898. [Epub ahead of print] 2014
6BBS4, OFD1
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q.
Nature 502(7470):254-7. doi: 10.1038/nature12606. Epub 2013 Oct 2. 2013
7OFD1
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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.
Hum Mutat 34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. 2013
8OFD1
Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.
D'Angelo A, De Angelis A, Avallone B, Piscopo I, Tammaro R, Studer M, Franco B.
PLoS One 7(12):e52937. doi: 10.1371/journal.pone.0052937. Epub 2012 Dec 27. 2012
9OFD1, RP23
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
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.
Hum Mol Genet 21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. 2012
10FAM161A, LCA5, OFD1, SDCCAG8
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C.
Hum Mol Genet 21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1. 2012
11OFD1
Ofd1 is required in limb bud patterning and endochondral bone development.
Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B.
Dev Biol 349(2):179-91. Epub 2010 Oct 14. 2011
12OFD1
The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Hunkapiller J, Singla V, Seol A, Reiter JF.
Stem Cells Dev 20(5):831-41. doi: 10.1089/scd.2010.0362. Epub 2010 Nov 30. 2011
13OFD1
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B.
Hum Mol Genet 19(14):2792-803. Epub 2010 May 5.PMID: 20444807 2010
14JBTS10, LCA5, OFD1, SGBS2
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
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.
Am J Hum Genet 85(4):465-81. 2009
15ACLS1, 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
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
Am J Med Genet A 146A(19):2501-11. 2008
16OFD1
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Hum Mutat 29(10):1237-46. 2008
17OFD1, RUVBL1
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.
Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B.
Mol Biol Cell 18(11):4397-404. Epub 2007 Aug 29. 2007
18OFD1
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
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.
J Med Genet 43(1):54-61. 2006
19OFD1, IFT172, IFT88
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.
Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B.
Nat Genet 38(1):112-7. Epub 2005 Nov 27. 2006
20OFD1, SGBS2
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
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.
Hum Genet 120(2):171-8. Epub 2006 Jun 17. 2006
21OFD1
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
Morisawa T, Yagi M, Surono A, Yokoyama N, Ohmori M, Terashi H, Matsuo M.
Hum Genet 115(2):97-103. Epub 2004 Jun 02. 2004
22OFD1
OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA.
J Am Soc Nephrol 15(10):2556-68. 2004
23OFD1, OFD1P1, OFDYP6
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
Ferrante MI, Barra A, Truong JP, Banfi S, Disteche CM, Franco B.
Genomics 81(6):560-9. 2003
24OFD1
Identification of the gene for oral-facial-digital type I syndrome.
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.
Am J Hum Genet 68(3):569-76. 2001
25MKLN1, OFD1, TAF5, TBL1X, TCOF1
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.
Emes RD, Ponting CP.
Hum Mol Genet 10(24):2813-20. 2001
26CYorf1, CYorf5, OFD1, OFD1P1
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, MarianiM, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S.
Genomics 51(2):243-50. 1998
27OFD1
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.
Hum Mol Genet 6(7):1163-7. 1997