BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 34811877)

  • 1. 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; 42(2):402-411. PubMed ID: 34811877
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 158(8):2236-2249.e9. PubMed ID: 32112796
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 65(1):164-173. PubMed ID: 27532546
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 65(5):1655-1669. PubMed ID: 28027573
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 60(1):301-10. PubMed ID: 24375397
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 72(1):213-229. PubMed ID: 31750554
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 74(5):e115-e121. PubMed ID: 35129155
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
    Sun M; Pylypenko O; Zhou Z; Xu M; Li Q; Houdusse A; van IJzendoorn SCD
    Cell Mol Gastroenterol Hepatol; 2024; 17(6):983-1005. PubMed ID: 38307491
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome.
    Golachowska MR; van Dael CM; Keuning H; Karrenbeld A; Hoekstra D; Gijsbers CF; Benninga MA; Rings EH; van Ijzendoorn SC
    J Pediatr Gastroenterol Nutr; 2012 Apr; 54(4):491-8. PubMed ID: 22441677
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of intestinal ion transport defects in microvillus inclusion disease.
    Kravtsov DV; Ahsan MK; Kumari V; van Ijzendoorn SC; Reyes-Mugica M; Kumar A; Gujral T; Dudeja PK; Ameen NA
    Am J Physiol Gastrointest Liver Physiol; 2016 Jul; 311(1):G142-55. PubMed ID: 27229121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 124(7):2947-62. PubMed ID: 24892806
    [TBL] [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; 34(12):1597-605. PubMed ID: 24014347
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
    Ruemmele FM; Müller T; Schiefermeier N; Ebner HL; Lechner S; Pfaller K; Thöni CE; Goulet O; Lacaille F; Schmitz J; Colomb V; Sauvat F; Revillon Y; Canioni D; Brousse N; de Saint-Basile G; Lefebvre J; Heinz-Erian P; Enninger A; Utermann G; Hess MW; Janecke AR; Huber LA
    Hum Mutat; 2010 May; 31(5):544-51. PubMed ID: 20186687
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 14(2):295-310. PubMed ID: 35421597
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 52(3):307-13. PubMed ID: 21206382
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis.
    Jarasvaraparn C; He M; Granadillo JL; Kulkarni S; Stoll J; Liss K
    J Pediatr Gastroenterol Nutr; 2021 Jan; 72(1):e22-e24. PubMed ID: 32459745
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease.
    Schlegel C; Weis VG; Knowles BC; Lapierre LA; Martin MG; Dickman P; Goldenring JR; Shub MD
    Dig Dis Sci; 2018 Feb; 63(2):356-365. PubMed ID: 29218485
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 60(253):821-824. PubMed ID: 36705120
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease].
    Cheng Y; Liang H; Cai NL; Guo L; Huang YG; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Sep; 19(9):968-974. PubMed ID: 28899465
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.
    Michaux G; Massey-Harroche D; Nicolle O; Rabant M; Brousse N; Goulet O; Le Bivic A; Ruemmele FM
    Biol Cell; 2016 Jan; 108(1):19-28. PubMed ID: 26526116
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.