Research Summary

The research in my laboratory occurs at the interface of genetics and hepatology. We identify and study genetic factors contributing to development of cholestatic liver disease in people and mouse models.

Research Funding

  • September 1, 2014 - August 31, 2020 - The Genetic Basis of Pediatric Cholestasis, Principal Investigator. Sponsor: NIH/NIDDK, Sponsor Award ID: R01DK094828
  • March 1, 1982 - May 31, 2015 - Bio-Organic Biomedical Mass Spectrometry Resource, Co-Investigator. Sponsor: NIH, Sponsor Award ID: P41RR001614
  • September 24, 2012 - August 31, 2014 - The Genetic Basis of Pediatric Cholestasis, Principal Investigator. Sponsor: NIH/NIDDK, Sponsor Award ID: R56DK094828
  • January 15, 2010 - June 30, 2014 - The Genetic Basis of Hereditary Liver Disease, Principal Investigator. Sponsor: NIH/NIDDK, Sponsor Award ID: R01DK058214

Education

Yale University, New Haven, CT, BS, 1986, Mol. Biophysics & Biochemistry
University of California, San Francisco, PhD, 1993, Biochemistry
University of California, San Francisco, Postdoc Fellow, 1994-1998, Neurogenetics

Honors & Awards

  • 1982-1983
    National Merit Scholarship
  • 1986-1987
    Heinrich Hertz Stiftung Foundation Award
  • 1987-1990
    National Science Foundation Graduate Fellowship
  • 1995-1997
    National Alliance for Research in Schizophrenia and Depression, Young Investigator Award
  • 1995-1997
    National Research Service Award, Post-doctoral Fellowship
  • 2000-2001
    Howard Hughes Medical Institute, HHMI Research Resources Program
  • 2003
    UCSF Faculty Development Award
  • 2004
    Invited Outside Expert Examiner, Ph.D. thesis of Saskia van Mil, Utrecht, The Netherlands
  • 2006
    Invited External Examiner, Ph.D. thesis of Veronica Coronado, University of Alberta, Canada.

Selected Publications

  1. Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.  View on PubMed
  2. van Doren H, Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL, Childhood Liver Disease Research Network (ChiLDReN) Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children with Monogenic Cholestasis.  View on PubMed
  3. Ovadia C, Sajous J, Seed PT, Patel K, Williamson NJ, Attilakos G, Azzaroli F, Bacq Y, Batsry L, Broom K, Brun-Furrer R, Bull L, Chambers J, Cui Y, Ding M, Dixon PH, Estiú MC, Gardiner FW, Geenes V, Grymowicz M, Günaydin B, Hague WM, Haslinger C, Hu Y, Indraccolo U, Juusela A, Kane SC, Kebapcilar A, Kebapcilar L, Kohari K, Kondrackiene J, Koster MPH, Lee RH, Liu X, Locatelli A, Macias RIR, Madazli R, Majewska A, Maksym K, Marathe JA, Morton A, Oudijk MA, Öztekin D, Peek MJ, Shennan AH, Tribe RM, Tripodi V, Türk Özterlemez N, Vasavan T, Wong LFA, Yinon Y, Zhang Q, Zloto K, Marschall HU, Thornton J, Chappell LC, Williamson C Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis.  View on PubMed
  4. Pham DH, Kudira R, Xu L, Valencia CA, Ellis JL, Shi T, Evason KJ, Osuji I, Matuschek N, Pfuher L, Mullen M, Mohanty SK, Husami A, Bull LN, Zhang K, Wali S, Yin C, Miethke A Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis.  View on PubMed
  5. Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ Cholestasis Due to USP53 Deficiency.  View on PubMed
  6. Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.  View on PubMed
  7. Ovadia C, Seed PT, Sklavounos A, Geenes V, Di Ilio C, Chambers J, Kohari K, Bacq Y, Bozkurt N, Brun-Furrer R, Bull L, Estiú MC, Grymowicz M, Gunaydin B, Hague WM, Haslinger C, Hu Y, Kawakita T, Kebapcilar AG, Kebapcilar L, Kondrackiene J, Koster MPH, Kowalska-Kanka A, Kupcinskas L, Lee RH, Locatelli A, Macias RIR, Marschall HU, Oudijk MA, Raz Y, Rimon E, Shan D, Shao Y, Tribe R, Tripodi V, Yayla Abide C, Yenidede I, Thornton JG, Chappell LC, Williamson C Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses.  View on PubMed
  8. Bull LN, Thompson RJ Progressive Familial Intrahepatic Cholestasis.  View on PubMed
  9. Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.  View on PubMed
  10. Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL, Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis.  View on PubMed
  11. Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J, , Bull L, Thompson RJ Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.  View on PubMed
  12. de Waart DR, Naik J, Utsunomiya KS, Duijst S, Ho-Mok K, Bolier AR, Hiralall J, Bull LN, Bosma PJ, Oude Elferink RP, Paulusma CC ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.  View on PubMed
  13. Bull LN, Hu D, Shah S, Temple L, Silva K, Huntsman S, Melgar J, Geiser MT, Sanford U, Ortiz JA, Lee RH, Kusanovic JP, Ziv E, Vargas JE Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping.  View on PubMed
  14. Thompson RJ, Bull LN Treating genetic disease: Expanding the options.  View on PubMed
  15. 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 Mutations in TJP2 cause progressive cholestatic liver disease.  View on PubMed
  16. Bull LN, Vargas J Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test.  View on PubMed
  17. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.  View on PubMed
  18. Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.  View on PubMed
  19. Hadžic N, Bull LN, Clayton PT, Knisely AS Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.  View on PubMed
  20. Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort.  View on PubMed

Go to UCSF Profiles, powered by CTSI