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165 related items for PubMed ID: 34809518

  • 1. 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; 25(2):207-212. PubMed ID: 34809518
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  • 4. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
    Zhang J, Yang Y, Gong JY, Li LT, Li JQ, Zhang MH, Lu Y, Xie XB, Hong YR, Yu Z, Knisely AS, Wang JS.
    Liver Int; 2020 May; 40(5):1142-1150. PubMed ID: 32124521
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  • 5. Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child.
    Porta G, Rigo PSM, Porta A, Pugliese RPS, Danesi VLB, Oliveira E, Borges CCV, Ribeiro C, Miura IK.
    J Pediatr Gastroenterol Nutr; 2021 May 01; 72(5):674-676. PubMed ID: 33661244
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  • 6. A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53.
    Shatokhina O, Semenova N, Demina N, Dadali E, Polyakov A, Ryzhkova O.
    Genes (Basel); 2021 Oct 14; 12(10):. PubMed ID: 34681012
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  • 7. Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
    Zheng Y, Guo H, Chen L, Cheng W, Yan K, Zhang Z, Li M, Jin Y, Hu G, Wang C, Zhou C, Zhou W, Jia Z, Zheng B, Liu Z.
    Hepatol Int; 2024 Apr 14; 18(2):661-672. PubMed ID: 37314652
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  • 8. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
    Alhebbi H, Peer-Zada AA, Al-Hussaini AA, Algubaisi S, Albassami A, AlMasri N, Alrusayni Y, Alruzug IM, Alharby E, Samman MA, Ayoub SZ, Maddirevula S, Peake RWA, Alkuraya FS, Wali S, Almontashiri NAM.
    J Hum Genet; 2021 Feb 14; 66(2):151-159. PubMed ID: 32759993
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  • 9. Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.
    Vij M, Shah V.
    Fetal Pediatr Pathol; 2022 Oct 14; 41(5):811-817. PubMed ID: 34338607
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  • 10. The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.
    Ahn S, Choi J, Jeong SH.
    Yonsei Med J; 2023 Dec 14; 64(12):745-749. PubMed ID: 37992747
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  • 11. Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.
    Gezdirici A, Kalaycik Şengül Ö, Doğan M, Özgüven BY, Akbulut E.
    Mol Syndromol; 2023 Jan 14; 13(6):471-484. PubMed ID: 36660033
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  • 16. Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
    Al Housni S, Al-Thihli K, Rahmatalla D, Wali Y, Al Rawahi Y.
    Sultan Qaboos Univ Med J; 2023 Nov 14; 23(4):543-546. PubMed ID: 38090248
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  • 17. An Overview of the Deubiquitinase USP53: A Promising Diagnostic Marker and Therapeutic Target.
    Xia G, Guo Y, Zhang J, Han M, Meng X, Lv J.
    Curr Protein Pept Sci; 2024 Nov 14; 25(9):708-718. PubMed ID: 39300775
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  • 18. Late-Onset Drug-Induced Cholestasis in a Living-Related Liver Transplant Donor With Progressive Familial Intrahepatic Cholestasis.
    Harmancı Ö, Ensaroğlu F, Özçay F, Öcal S, Korkmaz M, Özdemir BH, Selçuk H, Moray G, Haberal M.
    Exp Clin Transplant; 2015 Nov 14; 13 Suppl 3():107-9. PubMed ID: 26640927
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  • 19. Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19 mutation.
    Özkeçeci CF, Arslan M, Başaran EG, Ergen YM, Bozdoğan Ö, Balamtekin N.
    Turk J Pediatr; 2024 Oct 07; 66(4):505-510. PubMed ID: 39387424
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  • 20. [Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].
    Shen YL, Zhang XT, Xun YH.
    Zhonghua Gan Zang Bing Za Zhi; 2023 Mar 20; 31(3):307-313. PubMed ID: 37137858
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