Citations for
1KIAA0753
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies
Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN.
Am J Med Genet A. Jan;188(1):104-115. doi: 10.1002/ajmg.a.62497. Epub 2021 Sep 15. 2022
2CEP120, KIAA0753
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum
Chang CH, Chen TY, Lu IL, Li RB, Tsai JJ, Lin PY, Tang TK.
Genes Dev. Nov 1;35(21-22):1445-1460. doi: 10.1101/gad.348636.121. Epub 2021 Oct 28. 2021
3KIAA0753, SRTD21
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
Faudi E, Brischoux-Boucher E, Huber C, Dabudyk T, Lenoir M, Baujat G, Michot C, Van Maldergem L, Cormier-Daire V, Piard J.
Eur J Med Genet. Apr;63(4):103823. doi: 10.1016/j.ejmg.2019.103823. Epub 2019 Dec 7. 2020
4KIAA0753, SRTD21
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.
Sci Rep. Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. 2017
5JBTS38, KIAA0753
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M.
Hum Genet. Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. 2017
6FOPNL, KIAA0753, OFD15
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. Feb 1;25(3):497-513. doi: 10.1093/hmg/ddv488. Epub 2015 Dec 7 2016
7CDK5RAP2, CEP131, CEP152, CEP63, CEP72, KIAA0753, SPAG5, WDR62
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF.
Elife 4. doi: 10.7554/eLife.07519. 2015
8CEP63, KIAA0753
Proximity interactions among centrosome components identify regulators of centriole duplication.
Firat-Karalar EN, Rauniyar N, Yates JR 3rd, Stearns T.
Curr Biol 24(6):664-70. doi: 10.1016/j.cub.2014.01.067. Epub 2014 Mar 6. 2014
9ADGRL2, ADGRL3, ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
DNA Res 5(5):277-86. 1998