Laura Bull, PhD

Professor

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.
Education
2020 - Diversity, Equity, and Inclusion Champion Training, University of California
Ph.D., 1993 - Graduate Division (Biochemistry), University of California, San Francisco
Websites
Publications
  1. Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, University of Washington Center for Mendelian Genomics, Deheragoda M, Bull LN, Thompson RJ. Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1. 2021. PMID: 34677006


  2. Hertel PM, Hawthorne K, Kim S, Finegold MJ, Shneider BL, Squires JE, Gupta NA, Bull LN, Murray KF, Kerkar N, Ng VL, Molleston JP, Bezerra JA, Loomes KM, Taylor SA, Schwarz KB, Turmelle YP, Rosenthal P, Magee JC, Sokol RJ, Childhood Liver Disease Research Network (ChiLDReN). Presentation and Outcomes of Infants with Idiopathic Cholestasis: A Multi-Center Prospective Study. 2021. PMID: 34310436


  3. Bull LN, Morotti R, Squires JE. 2001 Oct 15 [Updated 2021 Sep 9].. ATP8B1 Deficiency. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al., editors 2021. PMID:


  4. 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. 2021. PMID: 34016879


  5. 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. 2021. PMID: 34046462


  6. 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. 2020. PMID: 33075013


  7. 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. 2021. PMID: 33915090


  8. 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. 2021. PMID: 33771553


  9. 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 PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. 2019. PMID: 30664273


  10. 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. 2019. PMID: 30773280


  11. Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. 2018. PMID: 30266155


  12. 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. Volume 2 of Issue 5. 2018. PMID: 29761168


  13. 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. Volume 65 of Issue 5. 2017. PMID: 28027587


  14. Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. Volume 65 of Issue 6. 2016. PMID: 27469900


  15. 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. Volume 64 of Issue 1. 2016. PMID: 26926206


  16. 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. Volume 10 of Issue 6. 2015. PMID: 26126184


  17. Thompson RJ, Bull LN. Treating genetic disease: Expanding the options. Volume 62 of Issue 2. 2015. PMID: 25820708


  18. 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. Mutations in TJP2 cause progressive cholestatic liver disease. Volume 46 of Issue 4. 2014. PMID: 24614073


  19. Bull LN, Vargas J. Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test. Volume 59 of Issue 4. 2014. PMID: 24123247


  20. 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. Volume 8 of Issue 9. 2013. PMID: 24086631


  21. 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. Volume 144 of Issue 5. 2013. PMID: 23415802


  22. Hadžic N, Bull LN, Clayton PT, Knisely AS. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. Volume 18 of Issue 25. 2012. PMID: 22783059


  23. 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. Volume 7 of Issue 3. 2012. PMID: 22403605


  24. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. Volume 53 of Issue 1. 2010. PMID: 20447715


  25. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. Strain background modifies phenotypes in the ATP8B1-deficient mouse. Volume 5 of Issue 2. 2010. PMID: 20126555


  26. Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH. ATP8B1 is essential for maintaining normal hearing. Volume 106 of Issue 24. 2009. PMID: 19478059


  27. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. Volume 8. 2008. PMID: 18937870


  28. Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Volume 134 of Issue 7. 2008. PMID: 18466903


  29. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Volume 134 of Issue 4. 2008. PMID: 18395098


  30. Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. Intestinal bile salt absorption in Atp8b1 deficient mice. Volume 47 of Issue 1. 2007. PMID: 17448567


  31. Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Volume 41 of Issue 12. 2006. PMID: 17101580


  32. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Volume 44 of Issue 2. 2006. PMID: 16871584


  33. Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Volume 44 of Issue 1. 2006. PMID: 16799980


  34. Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. Volume 42 of Issue 4. 2006. PMID: 16641580


  35. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. Volume 148 of Issue 2. 2006. PMID: 16492441


  36. van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Volume 127 of Issue 2. 2004. PMID: 15300568


  37. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Volume 40 of Issue 1. 2004. PMID: 15239083


  38. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Volume 126 of Issue 3. 2004. PMID: 14988830


  39. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Volume 13 of Issue 8. 2004. PMID: 14976163


  40. Carlton VE, Pawlikowska L, Bull LN. Molecular basis of intrahepatic cholestasis. Volume 36 of Issue 8. 2004. PMID: 15768832


  41. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Volume 34 of Issue 1. 2003. PMID: 12704386


  42. Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. Volume 142 of Issue 4. 2003. PMID: 12712065


  43. Bull LN. Hereditary forms of intrahepatic cholestasis. Volume 12 of Issue 3. 2002. PMID: 12076678


  44. van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. 2001. PMID: 11745041


  45. Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH. A missense mutation in FIC1 is associated with greenland familial cholestasis. 2000. PMID: 11093741


  46. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. 2000. PMID: 10968776


  47. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. 2000. PMID: 10889168


  48. Bull LN, Pabón-Peña CR, Freimer NB. Compound microsatellite repeats: practical and theoretical features. 1999. PMID: 10508841


  49. Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N. [Recurrent familial intrahepatic cholestasis in the Faroe Islands]. 1999. PMID: 10778315


  50. Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. 1999. PMID: 10323248


  51. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 1998. PMID: 9806540


  52. Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 1998. PMID: 9500542


  53. Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. 1997. PMID: 9272159


  54. Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. 1997. PMID: 9326328


  55. Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. 1997. PMID: 9214465


  56. Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B. In search of a gene for hereditary cholestasis. 1996. PMID: 8986630


  57. Bull LN, Hewitt JE, Cox DR, Myers RM. Sensitivity of HincII to CpG methylation. 1993. PMID: 8493118


  58. Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR. Recombination of 4p16 DNA markers in an unusual family with Huntington disease. 1992. PMID: 1350884