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Journal Abstract Search

150 related items for PubMed ID: 31240666

  • 1.
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  • 2. GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.
    Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.
    AJNR Am J Neuroradiol; 2019 May; 40(5):788-791. PubMed ID: 31023660
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  • 4. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.
    Wang Z, Sun L, Wang P, Chen C, Zhang A, Wang W, Ding X.
    Ophthalmic Genet; 2019 Feb; 40(1):54-59. PubMed ID: 30767687
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  • 5. Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene.
    Hayashi R, Bito T, Taniguchi-Ikeda M, Farooq M, Ito M, Shimomura Y.
    J Dermatol; 2014 Dec; 41(12):1109-10. PubMed ID: 25327171
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  • 8. Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis.
    Taki T, Takeichi T, Sugiura K, Akiyama M.
    Acta Derm Venereol; 2019 Dec 01; 99(13):1307-1308. PubMed ID: 31386161
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  • 9. Syndromic and non-syndromic disease-linked Cx43 mutations.
    Laird DW.
    FEBS Lett; 2014 Apr 17; 588(8):1339-48. PubMed ID: 24434540
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  • 10. Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
    Esseltine JL, Shao Q, Huang T, Kelly JJ, Sampson J, Laird DW.
    Biochem J; 2015 Nov 15; 472(1):55-69. PubMed ID: 26349540
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  • 12. Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
    Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW.
    Mol Biol Cell; 2016 Jul 15; 27(14):2172-85. PubMed ID: 27226478
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  • 13. Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.
    Tumminelli G, Di Donato I, Guida V, Rufa A, De Luca A, Federico A.
    J Alzheimers Dis; 2016 Jul 15; 49(1):27-30. PubMed ID: 26444782
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  • 14. Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
    Huang T, Shao Q, MacDonald A, Xin L, Lorentz R, Bai D, Laird DW.
    J Cell Sci; 2013 Jul 01; 126(Pt 13):2857-66. PubMed ID: 23606748
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  • 15. Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
    Kozoriz MG, Lai S, Vega JL, Sáez JC, Sin WC, Bechberger JF, Naus CC.
    Neuropharmacology; 2013 Dec 01; 75():549-56. PubMed ID: 23727526
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  • 16. A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema.
    Gumus E.
    Clin Dysmorphol; 2018 Jul 01; 27(3):91-93. PubMed ID: 29624507
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  • 17. [A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].
    Zeng H, Xie L, Tang M, Yang Y, Tan Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr 10; 35(2):268-271. PubMed ID: 29653008
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  • 18. Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects.
    Zheng L, Chenavas S, Kieken F, Trease A, Brownell S, Anbanandam A, Sorgen PL, Spagnol G.
    Biomolecules; 2020 Oct 17; 10(10):. PubMed ID: 33080786
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  • 19. Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.
    Harting I, Karch S, Moog U, Seitz A, Pouwels PJW, Wolf NI.
    AJNR Am J Neuroradiol; 2019 May 17; 40(5):903-907. PubMed ID: 31048294
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  • 20. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
    Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH.
    Am J Med Genet A; 2013 Dec 17; 161A(12):3150-4. PubMed ID: 24115525
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