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Journal Abstract Search

219 related items for PubMed ID: 24626991

  • 1. LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.
    Hart L, Rauch A, Carr AM, Vermeesch JR, O'Driscoll M.
    Dis Model Mech; 2014 May; 7(5):535-45. PubMed ID: 24626991
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  • 3. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
    Andersen EF, Carey JC, Earl DL, Corzo D, Suttie M, Hammond P, South ST.
    Eur J Hum Genet; 2014 Apr; 22(4):464-70. PubMed ID: 23963300
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  • 4. LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
    Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L.
    Hum Mol Genet; 2008 Jan 15; 17(2):201-14. PubMed ID: 17925330
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  • 5. A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
    McQuibban AG, Joza N, Megighian A, Scorzeto M, Zanini D, Reipert S, Richter C, Schweyen RJ, Nowikovsky K.
    Hum Mol Genet; 2010 Mar 15; 19(6):987-1000. PubMed ID: 20026556
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  • 6. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
    Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T.
    Am J Med Genet A; 2013 Jun 15; 161A(6):1465-9. PubMed ID: 23637096
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  • 8. Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.
    Jiang D, Zhao L, Clish CB, Clapham DE.
    Proc Natl Acad Sci U S A; 2013 Jun 11; 110(24):E2249-54. PubMed ID: 23716663
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  • 14. Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.
    Corrêa T, Mayndra M, Santos-Rebouças CB.
    Mol Neurobiol; 2022 May 11; 59(5):3159-3169. PubMed ID: 35278209
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  • 15. LETM1-dependent mitochondrial Ca2+ flux modulates cellular bioenergetics and proliferation.
    Doonan PJ, Chandramoorthy HC, Hoffman NE, Zhang X, Cárdenas C, Shanmughapriya S, Rajan S, Vallem S, Chen X, Foskett JK, Cheung JY, Houser SR, Madesh M.
    FASEB J; 2014 Nov 11; 28(11):4936-49. PubMed ID: 25077561
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  • 17. Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
    Mekkawy MK, Kamel AK, Thomas MM, Ashaat EA, Zaki MS, Eid OM, Ismail S, Hammad SA, Megahed H, ElAwady H, Refaat KM, Hussien S, Helmy N, Abd Allah SG, Mohamed AM, El Ruby MO.
    Mol Genet Genomic Med; 2021 Feb 11; 9(2):e1546. PubMed ID: 33217222
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  • 18. Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing.
    Aral C, Demirkesen S, Bircan R, Yasar Sirin D.
    Cell Biol Int; 2020 Mar 11; 44(3):795-807. PubMed ID: 31777134
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  • 19. Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.
    Carey JC, Lortz A, Mendel A, Battaglia A.
    Am J Med Genet A; 2021 Jul 11; 185(7):2065-2069. PubMed ID: 33949758
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  • 20. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.
    Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F.
    Cytogenet Genome Res; 2009 Jul 11; 125(2):103-8. PubMed ID: 19729912
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