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Journal Abstract Search

139 related items for PubMed ID: 34338607

  • 1. Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.
    Vij M, Shah V.
    Fetal Pediatr Pathol; 2022 Oct; 41(5):811-817. PubMed ID: 34338607
    [Abstract] [Full Text] [Related]

  • 2. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
    Matarazzo L, Bianco AM, Athanasakis E, Serveres M, Francalanci P, Cenacchi G, Maggiore G, D'Adamo AP.
    J Pediatr Gastroenterol Nutr; 2022 May 01; 74(5):e115-e121. PubMed ID: 35129155
    [Abstract] [Full Text] [Related]

  • 3. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
    Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D.
    Hepatology; 2014 Jul 01; 60(1):301-10. PubMed ID: 24375397
    [Abstract] [Full Text] [Related]

  • 4. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
    Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E.
    Hepatology; 2017 Jan 01; 65(1):164-173. PubMed ID: 27532546
    [Abstract] [Full Text] [Related]

  • 5. Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
    Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, Lu Y, Li LT, Zhang MH, Sheps JA, Wang NL, Yan YY, Li JQ, Chen L, Borchers CH, Sipos B, Knisely AS, Ling V, Xing QH, Wang JS.
    Hepatology; 2017 May 01; 65(5):1655-1669. PubMed ID: 28027573
    [Abstract] [Full Text] [Related]

  • 6. Mutations in Myosin 5B in Children With Early-onset Cholestasis.
    Cockar I, Foskett P, Strautnieks S, Clinch Y, Fustok J, Rahman O, Sutton H, Mtegha M, Fessatou S, Kontaki E, Papaevangelou V, Deheragoda M, Thompson RJ, Grammatikopoulos T.
    J Pediatr Gastroenterol Nutr; 2020 Aug 01; 71(2):184-188. PubMed ID: 32304554
    [Abstract] [Full Text] [Related]

  • 7. Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.
    Khanal M, Jha AK, Sharma AK.
    JNMA J Nepal Med Assoc; 2022 Sep 01; 60(253):821-824. PubMed ID: 36705120
    [Abstract] [Full Text] [Related]

  • 8. MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report.
    Lou Y, Lv Y, Yu J, Gu W, Jiang M, Chen J.
    BMC Med Genomics; 2024 Jul 16; 17(1):187. PubMed ID: 39014344
    [Abstract] [Full Text] [Related]

  • 9. Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature.
    Vij M, Sankaranarayanan S.
    Pediatr Dev Pathol; 2022 Jul 16; 25(2):207-212. PubMed ID: 34809518
    [Abstract] [Full Text] [Related]

  • 10. An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency.
    Mishima Y, Tsuruya K, Tazawa Y, Arase Y, Hirose S, Shiraishi K, Tanaka M, Isaki S, Kitamura T, Kagawa T.
    Tokai J Exp Clin Med; 2024 Sep 20; 49(3):133-136. PubMed ID: 39182182
    [Abstract] [Full Text] [Related]

  • 11. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
    Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC.
    J Pediatr Gastroenterol Nutr; 2011 Mar 20; 52(3):307-13. PubMed ID: 21206382
    [Abstract] [Full Text] [Related]

  • 12. An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
    van der Velde KJ, Dhekne HS, Swertz MA, Sirigu S, Ropars V, Vinke PC, Rengaw T, van den Akker PC, Rings EH, Houdusse A, van Ijzendoorn SC.
    Hum Mutat; 2013 Dec 20; 34(12):1597-605. PubMed ID: 24014347
    [Abstract] [Full Text] [Related]

  • 13. A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
    Overeem AW, Li Q, Qiu YL, Cartón-García F, Leng C, Klappe K, Dronkers J, Hsiao NH, Wang JS, Arango D, van Ijzendoorn SCD.
    Hepatology; 2020 Jul 20; 72(1):213-229. PubMed ID: 31750554
    [Abstract] [Full Text] [Related]

  • 14. MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
    Wang L, Qiu YL, Xu HM, Zhu J, Li SJ, OuYang WX, Yang YF, Lu Y, Xie XB, Xing QH, Wang JS.
    Liver Int; 2022 Feb 20; 42(2):402-411. PubMed ID: 34811877
    [Abstract] [Full Text] [Related]

  • 15. Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters.
    Engevik AC, Coutts AW, Kaji I, Rodriguez P, Ongaratto F, Saqui-Salces M, Medida RL, Meyer AR, Kolobova E, Engevik MA, Williams JA, Shub MD, Carlson DF, Melkamu T, Goldenring JR.
    Gastroenterology; 2020 Jun 20; 158(8):2236-2249.e9. PubMed ID: 32112796
    [Abstract] [Full Text] [Related]

  • 16. Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
    Yan W, Xiao Y, Zhang Y, Tao Y, Cao Y, Liu K, Cai W, Wang Y.
    Orphanet J Rare Dis; 2021 Sep 09; 16(1):383. PubMed ID: 34503561
    [Abstract] [Full Text] [Related]

  • 17. Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.
    van IJzendoorn SCD, Li Q, Qiu YL, Wang JS, Overeem AW.
    Hepatology; 2020 Oct 09; 72(4):1461-1468. PubMed ID: 32583448
    [No Abstract] [Full Text] [Related]

  • 18. Myosin 5b is required for proper localization of the intermicrovillar adhesion complex in the intestinal brush border.
    Dooley SA, Engevik KA, Digrazia J, Stubler R, Kaji I, Krystofiak E, Engevik AC.
    Am J Physiol Gastrointest Liver Physiol; 2022 Nov 01; 323(5):G501-G510. PubMed ID: 36218265
    [Abstract] [Full Text] [Related]

  • 19. A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
    Li Q, Zhou Z, Sun Y, Sun C, Klappe K, van IJzendoorn SCD.
    Cell Mol Gastroenterol Hepatol; 2022 Nov 01; 14(2):295-310. PubMed ID: 35421597
    [Abstract] [Full Text] [Related]

  • 20. Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
    Knowles BC, Roland JT, Krishnan M, Tyska MJ, Lapierre LA, Dickman PS, Goldenring JR, Shub MD.
    J Clin Invest; 2014 Jul 01; 124(7):2947-62. PubMed ID: 24892806
    [Abstract] [Full Text] [Related]

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