| 1 | IDSSAH, IQSEC1, IQSEC2, IQSEC3, MRX1
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| Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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| Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE.
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| Am J Hum Genet 105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10.
2019
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| 2 | IQSEC2, MRX1
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| The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
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| Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.
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| Am J Med Genet A 173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.
2017
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| 3 | IQSEC2, MRX1
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| Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
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| Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.
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| Eur J Hum Genet 25(6):763-767. doi: 10.1038/ejhg.2017.29. Epub 2017 Mar 15.
2017
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| 4 | IQSEC1, IQSEC2, IQSEC3
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| Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors.
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| Um JW.
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| Neurosci Res 116:54-59. doi: 10.1016/j.neures.2016.06.007. Epub 2016 Jun 28. Review.
2017
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| 5 | IQSEC2, MRX1
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| The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
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| Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Genevičve D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
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| Epilepsia 57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26.
2016
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| 6 | IQSEC2
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| Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
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| Brown JC, Petersen A, Zhong L, Himelright ML, Murphy JA, Walikonis RS, Gerges NZ.
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| Nat Commun 7:11080. doi: 10.1038/ncomms11080.
2016
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| 7 | ARF6, GRIN2B, IQSEC2
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| Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
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| Elagabani MN, Briševac D, Kintscher M, Pohle J, Köhr G, Schmitz D, Kornau HC.
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| J Biol Chem 291(17):9105-18. doi: 10.1074/jbc.M115.691717. Epub 2016 Feb 16.
2016
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| 8 | IQSEC1, IQSEC2
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| Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
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| Elagabani MN, Briševac D, Kintscher M, Pohle J, Köhr G, Schmitz D, Kornau HC.
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| J Biol Chem 291(17):9105-18. doi: 10.1074/jbc.M115.691717. Epub 2016 Feb 16.
2016
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| 9 | IQSEC2, MRX1
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| Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
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| Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D.
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| Eur J Hum Genet 22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.
2014
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| 10 | IQSEC1, IQSEC2, IQSEC3
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| Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina.
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| Sakagami H, Katsumata O, Hara Y, Tamaki H, Watanabe M, Harvey RJ, Fukaya M.
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| J Comp Neurol 521(4):860-76. doi: 10.1002/cne.23206.
2013
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| 11 | IQSEC2
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| Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
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| Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J.
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| Nat Genet 42(6):486-8. Epub 2010 May 16.PMID: 20473311 2010
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| 12 | BAIAP2, DLG4, IQSEC2
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| The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence.
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| Sanda M, Kamata A, Katsumata O, Fukunaga K, Watanabe M, Kondo H, Sakagami H.
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| Brain Res 1251:7-15. doi: 10.1016/j.brainres.2008.11.061. Epub 2008 Dec 3.
2009
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| 13 | CCDC120, CCDC22, IQSEC2, MAGIX, PRAF2, SHROOM4, WDR45
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| X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
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| Jensen LR, Lenzner S, Moser B, Freude K, Tzschach A, Wei C, Fryns JP, Chelly J, Turner G, Moraine C, Hamel B, Ropers HH, Kuss AW.
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| Eur J Hum Genet 15(1):68-75. Epub 2006 Sep 13. 2007
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| 14 | IQSEC2
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| BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses.
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| Murphy JA, Jensen ON, Walikonis RS.
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| Brain Res 1120(1):35-45. Epub 2006 Oct 11.
2006
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| 15 | IQSEC2
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| Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.
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| Tsuchiya KD, Greally JM, Yi Y, Noel KP, Truong JP, Disteche CM.
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| Genome Res 14(7):1275-84. Epub 2004 Jun 14. 2004
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| 16 | ADAMTSL2, ARMCX2, C2CD5, CACNA2D2, CEP104, CEP68, DHX16, ERAP1, GPRIN2, HDAC5, IFT140, IQSEC2, JAKMIP2, KIAA0513, KIAA0556, KIAA0564, KIAA0586, KIF5C, LCMT2, LRRC37A, MARCHF6, MED13, NCDN, PCLO, PIP5K1C, PLCB1, PLEKHG3, PPFIA4, PPRC1, PRPF4B, ProSAPiP1, RASA4, SARM1, SMC5, ST18, TRIM2, URB1, USP15, ZCCHC14, ZNF292, ZNF451
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| Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(1):31-9. 1998
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