1 | INTU, OFD17
|
| INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
|
| Yakar O, Tatar A.
|
| Am J Med Genet A. Feb;188(2):590-594. doi: 10.1002/ajmg.a.62527. Epub 2021 Oct 8. 2022
|
2 | FUZ, INTU, SRTD20, WDPCP
|
| CPLANE Complex and Ciliopathies
|
| Martín-Salazar JE, Valverde D.
|
| Biomolecules. Jun 17;12(6):847. doi: 10.3390/biom12060847 2022
|
3 | INTU, OFD17
|
| INTU-related oral-facial-digital syndrome type VI: A confirmatory report
|
| Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.
|
| Clin Genet. Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6. 2018
|
4 | C2CD3, 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, Rivičre 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
|
5 | INTU
|
| INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma
|
| Yang N, Leung EL, Liu C, Li L, Eguether T, Jun Yao XJ, Jones EC, Norris DA, Liu A, Clark RA, Roop DR, Pazour GJ, Shroyer KR, Chen J.
|
| Oncogene. Aug 31;36(35):4997-5005. doi: 10.1038/onc.2017.117. Epub 2017 May 1. 2017
|
6 | INTU
|
| A hypomorphic allele reveals an important role of inturned in mouse skeletal development.
|
| Chang R, Petersen JR, Niswander LA, Liu A.
|
| Dev Dyn 244(6):736-47. doi: 10.1002/dvdy.24272. Epub 2015 May 25.
2015
|
7 | INTU
|
| Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia.
|
| Dai D, Li L, Huebner A, Zeng H, Guevara E, Claypool DJ, Liu A, Chen J.
|
| Cell Death Differ 20(1):130-8. doi: 10.1038/cdd.2012.104. Epub 2012 Aug 31.
2013
|
8 | FUZ, INTU
|
| PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube.
|
| Heydeck W, Liu A.
|
| Dev Dyn 240(8):1938-48. doi: 10.1002/dvdy.22696.
2011
|
9 | AARS2, ADAMTSL3, AHRR, AMIGO1, ANKFY1, ARHGAP31, ARID1A, ARID1B, ASAP1, ASB1, BACE1, BIRC6, BRPF3, C14orf118, CASKIN2, CCPG1, CD2BP2, CNOT6, COG6, CPAMD8, DCDC2, DLG3, ERBIN, ERGIC1, FAM190B, FAM63B, FBXO40, FILIP1, FSTL5, FZR1, GALNTL1, GATAD2B, GDA, GMEB2, GNPTAB, GRID1, GRIPAP1, HECTD1, HEG1, HHATL, INTU, IPO9, ISY1, KCNH3, KIAA1143, KIAA1191, KIAA1217, KIAA1274, LCHN, LMBR1L, LRFN2, LRRC47, MACF1, MAP7D1, MIER2, MTA3, MYO5B, MYOF, MYORG, NDFIP2, NDRG2, NELFB, NLGN4X, NLN, OGDHL, PAIP2B, PAK7, PECR, PLEKHG1, PLEKHH1, PNKD, PNMAL2, PPP1R9A, PRDM10, REXO1, RIMKLB, RNF150, SGPL1, SHROOM4, SLC39A10, SLC45A4, SRGAP2, STK36, SULF2, TBC1D24, TLE4, TMCC3, TPCN1, TRMT6, TTC7A, TTC7B, USP31, ZBTB21, ZBTB47, ZC4H2, ZNF490, ZNF644, ZNF777
|
| Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
|
| Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O.
|
| DNA Res 6(5):329-36. 1999
|