BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 33097077)

  • 1. Novel GANAB variants associated with polycystic liver disease.
    van de Laarschot LFM; Te Morsche RHM; Hoischen A; Venselaar H; Roelofs HM; Cnossen WR; Banales JM; Roepman R; Drenth JPH
    Orphanet J Rare Dis; 2020 Oct; 15(1):302. PubMed ID: 33097077
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
    Porath B; Gainullin VG; Cornec-Le Gall E; Dillinger EK; Heyer CM; Hopp K; Edwards ME; Madsen CD; Mauritz SR; Banks CJ; Baheti S; Reddy B; Herrero JI; Bañales JM; Hogan MC; Tasic V; Watnick TJ; Chapman AB; Vigneau C; Lavainne F; Audrézet MP; Ferec C; Le Meur Y; Torres VE; ; ; Harris PC
    Am J Hum Genet; 2016 Jun; 98(6):1193-1207. PubMed ID: 27259053
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
    Delbarba E; Econimo L; Dordoni C; Martin E; Mazza C; Savoldi G; Alberici F; Scolari F; Izzi C
    J Nephrol; 2022 Mar; 35(2):645-652. PubMed ID: 34357571
    [TBL] [Abstract][Full Text] [Related]  

  • 4.
    Geng G; Xiao Y; Zhang Y; Shen W; Liu J; Zhu F; Wang X; Wu J; Liu R; Cai G; Bai X; Li Q; Chen X
    Biomed Res Int; 2020; 2020():7469428. PubMed ID: 32550232
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autophagy-mediated reduction of miR-345 contributes to hepatic cystogenesis in polycystic liver disease.
    Masyuk T; Masyuk A; Trussoni C; Howard B; Ding J; Huang B; LaRusso N
    JHEP Rep; 2021 Oct; 3(5):100345. PubMed ID: 34568801
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
    Sierks D; Schönauer R; Friedrich A; Hantmann E; de Fallois J; Linder N; Fischer J; Herber A; Bergmann C; Berg T; Halbritter J
    JHEP Rep; 2022 Nov; 4(11):100579. PubMed ID: 36246085
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
    Boerrigter MM; Te Morsche RHM; Venselaar H; Pastoors N; Geerts AM; Hoorens A; Drenth JPH
    Genes (Basel); 2023 Aug; 14(8):. PubMed ID: 37628703
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
    Wills ES; Te Morsche RHM; van Reeuwijk J; Horn N; Geomini I; van de Laarschot LFM; Mans DA; Ueffing M; Boldt K; Drenth JPH; Roepman R
    Hum Mol Genet; 2017 Nov; 26(21):4190-4202. PubMed ID: 28973524
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
    Boerrigter MM; Duijzer R; Te Morsche RHM; Drenth JPH
    Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761895
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E; Torres VE; Harris PC
    J Am Soc Nephrol; 2018 Jan; 29(1):13-23. PubMed ID: 29038287
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic Analysis of Severe Polycystic Liver Disease in Japan.
    Mizuno H; Besse W; Sekine A; Long KT; Kurihara S; Oba Y; Yamanouchi M; Hasegawa E; Suwabe T; Sawa N; Ubara Y; Somlo S; Hoshino J
    Kidney360; 2024 May; ():. PubMed ID: 38689396
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
    Besse W; Choi J; Ahram D; Mane S; Sanna-Cherchi S; Torres V; Somlo S
    Hum Mutat; 2018 Mar; 39(3):378-382. PubMed ID: 29243290
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.
    Mahboobipour AA; Ala M; Safdari Lord J; Yaghoobi A
    Orphanet J Rare Dis; 2024 Apr; 19(1):175. PubMed ID: 38671465
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.
    Waldrop E; Al-Obaide MAI; Vasylyeva TL
    Front Genet; 2019; 10():44. PubMed ID: 30792735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry.
    van Aerts RMM; Kievit W; de Jong ME; Ahn C; Bañales JM; Reiterová J; Nevens F; Drenth JPH
    Liver Int; 2019 Mar; 39(3):575-582. PubMed ID: 30225933
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
    Li A; Davila S; Furu L; Qian Q; Tian X; Kamath PS; King BF; Torres VE; Somlo S
    Am J Hum Genet; 2003 Mar; 72(3):691-703. PubMed ID: 12529853
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.
    Nielsen ML; Lildballe DL; Rasmussen M; Bojesen A; Birn H; Sunde L
    Eur J Med Genet; 2021 Apr; 64(4):104183. PubMed ID: 33639313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetics and mechanisms of hepatic cystogenesis.
    van de Laarschot LFM; Drenth JPH
    Biochim Biophys Acta Mol Basis Dis; 2018 Apr; 1864(4 Pt B):1491-1497. PubMed ID: 28782656
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.
    Peces R; Drenth JP; Te Morsche RH; González P; Peces C
    World J Gastroenterol; 2005 Dec; 11(48):7690-3. PubMed ID: 16437702
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Somatic second-hit mutations leads to polycystic liver diseases.
    Banales JM; Munoz-Garrido P; Bujanda L
    World J Gastroenterol; 2013 Jan; 19(1):141-3. PubMed ID: 23326178
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.