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Journal Abstract Search

168 related items for PubMed ID: 36660033

  • 1. 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; 13(6):471-484. PubMed ID: 36660033
    [Abstract] [Full Text] [Related]

  • 2. 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 Jan; 25(2):207-212. PubMed ID: 34809518
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 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 14; 40(5):1142-1150. PubMed ID: 32124521
    [Abstract] [Full Text] [Related]

  • 5. A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
    Ateş BB, Ceylan AC, Hızal G, Duran F, Doğan HT, Hızlı Ş.
    Turk J Pediatr; 2023 May 14; 65(6):1012-1017. PubMed ID: 38204320
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Cholestasis Due to USP53 Deficiency.
    Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ.
    J Pediatr Gastroenterol Nutr; 2021 May 01; 72(5):667-673. PubMed ID: 33075013
    [Abstract] [Full Text] [Related]

  • 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 01; 66(2):151-159. PubMed ID: 32759993
    [Abstract] [Full Text] [Related]

  • 9. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
    Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS.
    Genet Med; 2019 May 01; 21(5):1164-1172. PubMed ID: 30250217
    [Abstract] [Full Text] [Related]

  • 10. Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1-3 and Granular Dentate with AMPA Synapse Interactions.
    Kanwal A, Sheikh SA, Aslam F, Yaseen S, Beetham Z, Pankratz N, Clabots CR, Naz S, Pardo JV.
    Genes (Basel); 2023 Oct 09; 14(10):. PubMed ID: 37895270
    [Abstract] [Full Text] [Related]

  • 11. A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
    Quental R, Sampaio M, Alonso I, Quental S, Leão M, Sousa R.
    Neuropediatrics; 2023 Apr 09; 54(2):120-125. PubMed ID: 36652953
    [Abstract] [Full Text] [Related]

  • 12. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E.
    BMC Med Genet; 2019 Jul 17; 20(1):127. PubMed ID: 31315586
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
    Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R.
    Mol Genet Genomic Med; 2018 Mar 01; 6(2):282-287. PubMed ID: 29271071
    [Abstract] [Full Text] [Related]

  • 15. Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.
    Edizadeh M, Kaymakcalan H, Valilou SF, Şahin Y.
    Am J Med Genet A; 2023 May 01; 191(5):1465-1469. PubMed ID: 36757286
    [Abstract] [Full Text] [Related]

  • 16. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
    Khan MA, Ullah A, Naeem M.
    Mol Biol Rep; 2018 Aug 01; 45(4):565-570. PubMed ID: 29926385
    [Abstract] [Full Text] [Related]

  • 17. Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis.
    He G, Zhao J, Wang X, Li S, Qin S, Chen X, Xi N.
    J Matern Fetal Neonatal Med; 2021 Oct 01; 34(20):3300-3305. PubMed ID: 31736371
    [Abstract] [Full Text] [Related]

  • 18. A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.
    Li L, Bu X, Ji Y, Tan P, Liu S.
    Front Pediatr; 2021 Oct 01; 9():651621. PubMed ID: 33959574
    [Abstract] [Full Text] [Related]

  • 19. Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
    Morales-Rosado JA, Macke EL, Cousin MA, Oliver GR, Dhamija R, Klee EW.
    Mol Genet Genomic Med; 2020 Sep 01; 8(9):e1341. PubMed ID: 32597037
    [Abstract] [Full Text] [Related]

  • 20. 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 Sep 01; 25(9):708-718. PubMed ID: 39300775
    [Abstract] [Full Text] [Related]

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