BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 30658709)

  • 1. Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease.
    Ge T; Zhang X; Xiao Y; Wang Y; Zhang T
    BMC Med Genet; 2019 Jan; 20(1):18. PubMed ID: 30658709
    [TBL] [Abstract][Full Text] [Related]  

  • 2. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
    Wei CS; Becher N; Friis JB; Ott P; Vogel I; Grønbæk H
    World J Gastroenterol; 2020 Feb; 26(5):550-561. PubMed ID: 32089630
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
    Vitale G; Gitto S; Raimondi F; Mattiaccio A; Mantovani V; Vukotic R; D'Errico A; Seri M; Russell RB; Andreone P
    J Gastroenterol; 2018 Aug; 53(8):945-958. PubMed ID: 29238877
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation.
    Mirza N; Bharadwaj R; Malhotra S; Sibal A
    BMJ Case Rep; 2020 Jul; 13(7):. PubMed ID: 32636225
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
    Dixon PH; Sambrotta M; Chambers J; Taylor-Harris P; Syngelaki A; Nicolaides K; Knisely AS; Thompson RJ; Williamson C
    Sci Rep; 2017 Sep; 7(1):11823. PubMed ID: 28924228
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Progressive familial intrahepatic cholestasis related to mutation of the TJP2 gene: recent advances].
    Zhang J; Yu H
    Zhonghua Gan Zang Bing Za Zhi; 2016 Jan; 24(1):78-80. PubMed ID: 26983395
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India.
    Mehta S; Kumar K; Bhardwaj R; Malhotra S; Goyal N; Sibal A
    J Clin Exp Hepatol; 2022; 12(2):454-460. PubMed ID: 35535061
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in TJP2 cause progressive cholestatic liver disease.
    Sambrotta M; Strautnieks S; Papouli E; Rushton P; Clark BE; Parry DA; Logan CV; Newbury LJ; Kamath BM; Ling S; Grammatikopoulos T; Wagner BE; Magee JC; Sokol RJ; Mieli-Vergani G; ; Smith JD; Johnson CA; McClean P; Simpson MA; Knisely AS; Bull LN; Thompson RJ
    Nat Genet; 2014 Apr; 46(4):326-8. PubMed ID: 24614073
    [TBL] [Abstract][Full Text] [Related]  

  • 9. TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
    Zhang J; Liu LL; Gong JY; Hao CZ; Qiu YL; Lu Y; Feng JY; Li JQ; Li ZD; Wang MX; Xing QH; Knisely AS; Wang JS
    Hum Mutat; 2020 Feb; 41(2):502-511. PubMed ID: 31696999
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
    Chen HL; Li HY; Wu JF; Wu SH; Chen HL; Yang YH; Hsu YH; Liou BY; Chang MH; Ni YH
    J Pediatr; 2019 Feb; 205():153-159.e6. PubMed ID: 30366773
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
    Chen HL; Wu SH; Hsu SH; Liou BY; Chen HL; Chang MH
    J Biomed Sci; 2018 Oct; 25(1):75. PubMed ID: 30367658
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two Novel Pathogenic Variants of
    Tang J; Tan M; Deng Y; Tang H; Shi H; Li M; Ma W; Li J; Dai H; Li J; Zhou S; Li X; Wei F; Ma X; Luo L
    Front Cell Dev Biol; 2021; 9():661599. PubMed ID: 34504838
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.
    Lipiński P; Ciara E; Jurkiewicz D; Płoski R; Wawrzynowicz-Syczewska M; Pawłowska J; Jankowska I
    Ann Hepatol; 2021; 25():100342. PubMed ID: 33757843
    [TBL] [Abstract][Full Text] [Related]  

  • 14.  Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
    Vitale G; Pirillo M; Mantovani V; Marasco E; Aquilano A; Gamal N; Francalanci P; Conti F; Andreone P
    Ann Hepatol; 2016; 15(5):795-800. PubMed ID: 27493120
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Progressive familial intrahepatic cholestasis.
    Jacquemin E
    Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
    Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E
    Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human iPSC-derived hepatocyte system models cholestasis with tight junction protein 2 deficiency.
    Li CZ; Ogawa H; Ng SS; Chen X; Kishimoto E; Sakabe K; Fukami A; Hu YC; Mayhew CN; Hellmann J; Miethke A; Tasnova NL; Blackford SJI; Tang ZM; Syanda AM; Ma L; Xiao F; Sambrotta M; Tavabie O; Soares F; Baker O; Danovi D; Hayashi H; Thompson RJ; Rashid ST; Asai A
    JHEP Rep; 2022 Apr; 4(4):100446. PubMed ID: 35284810
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic cholestasis: lessons from the molecular physiology of bile formation.
    Jansen PL; Müller M
    Can J Gastroenterol; 2000 Mar; 14(3):233-8. PubMed ID: 10758420
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Treatment with an ileal bile acid transporter inhibitor in patients with TJP2 deficiency.
    Di Giorgio A; Sciveres M; Fuoti M; Sonzogni A; Mandato C; D'Antiga L
    Clin Res Hepatol Gastroenterol; 2023 Oct; 47(8):102185. PubMed ID: 37499899
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation of the TJP2 gene in a Chinese child with progressive cholestatic liver disease coexistent with hearing impairment.
    Zhang J; Guo S; Mei TL; Zhou J; Guan DX; Wang GL
    Hepatobiliary Pancreat Dis Int; 2021 Apr; 20(2):198-200. PubMed ID: 33162339
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.