| 1 | SCAR28, THG1L
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| Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population
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| Rabin R, Hirsch Y, Johansson MM, Ekstein J, Ekstein A, Pappas J.
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| Am J Med Genet A. May;185(5):1589-1597. doi: 10.1002/ajmg.a.62147. Epub 2021 Mar 8. 2021
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| 2 | SCAR28, THG1L
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| Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. 20195.
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| Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L.
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| Am J Med Genet A. Aug;179(8):1575-1579. doi: 10.1002/ajmg.a.61196. Epub 2019 Jun 2019
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| 3 | SCAR28, THG1L
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| A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 2016. PMID:
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| Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O
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| Neurogenetics. Oct;17(4):219-225. doi: 10.1007/s10048-016-0487-z. Epub 2016 Jun 15 2016
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| 4 | THG1L
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| IHG-1 must be localised to mitochondria to decrease Smad7 expression and amplify TGF-β1-induced fibrotic responses
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| Corcoran JB, McCarthy S, Griffin B, Gaffney A, Bhreathnach U, Börgeson E, Hickey FB, Docherty NG, Higgins DF, Furlong F, Martin F, Godson C, Murphy M.
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| Biochim Biophys Acta. Aug;1833(8):1969-78. doi: 10.1016/j.bbamcr.2013.03.027. Epub 2013 Apr 6. 2013
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| 5 | PPARGC1A, THG1L
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| IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α. 2011 . PMID:
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| Hickey FB, Corcoran JB, Docherty NG, Griffin B, Bhreathnach U, Furlong F, Martin F, Godson C, Murphy M.
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| J Am Soc Nephrol. Aug;22(8):1475-85. doi: 10.1681/ASN.2010111154. Epub 2011 Jul 22 2011
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| 6 | THG1L
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| IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis.
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| Murphy M, Docherty NG, Griffin B, Howlin J, McArdle E, McMahon R, Schmid H, Kretzler M, Droguett A, Mezzano S, Brady HR, Furlong F, Godson C, Martin F.
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| J Am Soc Nephrol. Sep;19(9):1672-80. doi: 10.1681/ASN.2007101080. Epub 2008 May 28. 2008
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| 7 | THG1L
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| Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation.
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| Guo D, Hu K, Lei Y, Wang Y, Ma T, He D.
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| J Biol Chem 279(51):53498-505. Epub 2004 Sep 29. 2004
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