Citations for
1DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
Am J Hum Genet. Oct 28:S0002-9297(20)30363-3. doi: 10.1016/j.ajhg.2020.10.005. Epub ahead of print. 2020
2DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. PMID:
Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J
Am J Hum Genet. Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. 2020
3REXO1, RLIM
Rlim/Rnf12, Rex1, and X Chromosome Inactivation
Wang F, Bach I.
Front Cell Dev Biol. Oct 31;7:258. doi: 10.3389/fcell.2019.00258. 2019
4MRX61, RLIM
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM.
Mol Psychiatry. Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4 2019
5RLIM
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Bustos F, Segarra-Fas A, Chaugule VK, Brandenburg L, Branigan E, Toth R, Macartney T, Knebel A, Hay RT, Walden H, Findlay GM.
Cell Rep. May 8;23(6):1599-1611. doi: 10.1016/j.celrep.2018.04.022. 2018
6LDB1, LHX2, RLIM
Ldb1- and Rnf12-dependent regulation of Lhx2 controls the relative balance between neurogenesis and gliogenesis in the retina.
de Melo J, Clark BS, Venkataraman A, Shiau F, Zibetti C, Blackshaw S.
Development Apr 30;145(9):dev159970. doi: 10.1242/dev.159970 2018
7RLIM
Rlim-Dependent and -Independent Pathways for X Chromosome Inactivation in Female ESCs.
Wang F, McCannell KN, Bošković A, Zhu X, Shin J, Yu J, Gallant J, Byron M, Lawrence JB, Zhu LJ, Jones SN, Rando OJ, Fazzio TG, Bach I.
Cell Rep. Dec 26;21(13):3691-3699. doi: 10.1016/j.celrep.2017.12.004 2017
8MRX61, RLIM
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.
Mol Psychiatry 21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. 2016
9RLIM
E3 Ubiquitin Ligase RLIM Negatively Regulates c-Myc Transcriptional Activity and Restrains Cell Proliferation.
Gao R, Wang L, Cai H, Zhu J, Yu L.
PLoS One. Sep 29;11(9):e0164086. doi: 10.1371/journal.pone.0164086. eCollection 2016 2016
10MRX61, RLIM
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Třnne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T.
Eur J Hum Genet 23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4. 2015
11RLIM
The trans-activator RNF12 and cis-acting elements effectuate X chromosome inactivation independent of X-pairing.
Barakat TS, Loos F, van Staveren S, Myronova E, Ghazvini M, Grootegoed JA, Gribnau J.
Mol Cell 53(6):965-78. doi: 10.1016/j.molcel.2014.02.006. Epub 2014 Mar 6. 2014
12RLIM
Functional activity of RLIM/Rnf12 is regulated by phosphorylation-dependent nucleocytoplasmic shuttling.
Jiao B, Taniguchi-Ishigaki N, Güngör C, Peters MA, Chen YW, Riethdorf S, Drung A, Ahronian LG, Shin J, Pagnis R, Pantel K, Tachibana T, Lewis BC, Johnsen SA, Bach I.
Mol Biol Cell 24(19):3085-96. doi: 10.1091/mbc.E13-05-0239. Epub 2013 Jul 31. 2013
13REXO1, RLIM
Releasing the break on X chromosome inactivation: Rnf12/RLIM targets REX1 for degradation.
Bach I.
Cell Res 22(11):1524-6. doi: 10.1038/cr.2012.98. Epub 2012 Jun 26. 2012
14RLIM
Paternal RLIM/Rnf12 is a survival factor for milk-producing alveolar cells.
Jiao B, Ma H, Shokhirev MN, Drung A, Yang Q, Shin J, Lu S, Byron M, Kalantry S, Mercurio AM, Lawrence JB, Hoffmann A, Bach I.
Cell 149(3):630-41. doi: 10.1016/j.cell.2012.02.056. 2012
15RLIM
RNF12 activates Xist and is essential for X chromosome inactivation.
Barakat TS, Gunhanlar N, Pardo CG, Achame EM, Ghazvini M, Boers R, Kenter A, Rentmeester E, Grootegoed JA, Gribnau J.
PLoS Genet 7(1):e1002001. 2011
16RLIM, TSIX
The X-inactivation trans-activator Rnf12 is negatively regulated by pluripotency factors in embryonic stem cells.
Navarro P, Moffat M, Mullin NP, Chambers I.
Hum Genet 130(2):255-64. Epub 2011 May 5. 2011
17RLIM, SMURF2
RLIM interacts with Smurf2 and promotes TGF-β induced U2OS cell migration.
Huang Y, Yang Y, Gao R, Yang X, Yan X, Wang C, Jiang S, Yu L.
Biochem Biophys Res Commun 414(1):181-5. Epub 2011 Sep 17. 2011
18FBXO1, RLIM, TERF1
Ubiquitin Ligase RLIM Modulates Telomere Length Homeostasis through a Proteolysis of TRF1.
Her YR, Chung IK.
J Biol Chem 284(13):8557-66. Epub 2009 Jan 21. 2009
19PDLIM1, RLIM
Regulation of estrogen-dependent transcription by the LIM cofactors CLIM and RLIM in breast cancer.
Johnsen SA, Güngör C, Prenzel T, Riethdorf S, Riethdorf L, Taniguchi-Ishigaki N, Rau T, Tursun B, Furlow JD, Sauter G, Scheffner M, Pantel K, Gannon F, Bach I.
Cancer Res 69(1):128-36. 2009
20RLIM
RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation.
Jonkers I, Barakat TS, Achame EM, Monkhorst K, Kenter A, Rentmeester E, Grosveld F, Grootegoed JA, Gribnau J.
Cell 139(5):999-1011.PMID: 19945382 2009
21LDB1, RLIM
Selective degradation of excess Ldb1 by Rnf12/RLIM confers proper Ldb1 expression levels and Xlim-1/Ldb1 stoichiometry in Xenopus organizer functions.
Hiratani I, Yamamoto N, Mochizuki T, Ohmori SY, Taira M.
Development 130(17):4161-75. 2003
22RLIM
Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors.
Ostendorff HP, Peirano RI, Peters MA, Schlüter A, Bossenz M, Scheffner M, Bach I.
Nature 416(6876):99-103. 2002
23RLIM
RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex.
Bach I, Rodriguez-Esteban C, Carričre C, Bhushan A, Krones A, Rose DW, Glass CK, Andersen B, Izpisúa Belmonte JC, Rosenfeld MG.
Nat Genet 22(4):394-9.PMID: 10431247 1999