| 1 | IDSSMM, TELO2, TTI1, TTI2
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| Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
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| Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE.
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| Am J Hum Genet. Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. 2023
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| 2 | TELO2, TTI1, TTI2
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| Structure of the Human TELO2-TTI1-TTI2 Complex
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| Kim Y, Park J, Joo SY, Kim BG, Jo A, Lee H, Cho Y.
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| J Mol Biol. Jan 30;434(2):167370. doi: 10.1016/j.jmb.2021.167370. Epub 2021 Nov 24 2022
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| 3 | MRT39, TELO2, TTI1, TTI2
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| Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
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| Wang R, Han S, Liu H, Khan A, Xiaerbati H, Yu X, Huang J, Zhang X.
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| Front Genet. Oct 29;10:1060. doi: 10.3389/fgene.2019.01060 2019
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| 4 | MMRAV, TELO2
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| A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
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| You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J.
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| Am J Hum Genet 98(5):909-18. doi: 10.1016/j.ajhg.2016.03.014. Epub 2016 Apr 28.
2016
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| 5 | DLX2, TELO2, TTI1, TTI2
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| A gain-of-function senescence bypass screen identifies the homeobox transcription factor DLX2 as a regulator of ATM-p53 signaling
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| Wang Y, Xu Q, Sack L, Kang C, Elledge SJ.
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| Genes Dev. Feb 1;30(3):293-306. doi: 10.1101/gad.271445.115. 2016
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| 6 | CSNK2A1, TELO2
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| Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.
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| Rao F, Cha J, Xu J, Xu R, Vandiver MS, Tyagi R, Tokhunts R, Koldobskiy MA, Fu C, Barrow R, Wu M, Fiedler D, Barrow JC, Snyder SH.
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| Mol Cell 54(1):119-32. doi: 10.1016/j.molcel.2014.02.020. Epub 2014 Mar 20.
2014
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| 7 | SMG1, TELO2
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| CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability.
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| Horejsí Z, Takai H, Adelman CA, Collis SJ, Flynn H, Maslen S, Skehel JM, de Lange T, Boulton SJ.
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| Mol Cell 39(6):839-50.
2010
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| 8 | TELO2, TTI1
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| Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
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| Kaizuka T, Hara T, Oshiro N, Kikkawa U, Yonezawa K, Takehana K, Iemura S, Natsume T, Mizushima N.
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| J Biol Chem 285(26):20109-16. Epub 2010 Apr 28.
2010
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| 9 | TELO2, TTI1, TTI2
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| A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.
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| Hurov KE, Cotta-Ramusino C, Elledge SJ.
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| Genes Dev 24(17):1939-50.
2010
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| 10 | HSP90AA1, TELO2, TTI1, TTI2
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| Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.
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| Takai H, Xie Y, de Lange T, Pavletich NP.
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| Genes Dev 24(18):2019-30. Epub 2010 Aug 27.
2010
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| 11 | SMG1, TELO2
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| Tel2 regulates the stability of PI3K-related protein kinases.
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| Takai H, Wang RC, Takai KK, Yang H, de Lange T.
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| Cell 131(7):1248-59.
2007
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| 12 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
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| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
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| DNA Res 5(3):169-76. 1998
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