Laura Bull, PhD
Professor
Medicine
School of Medicine

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 & Training

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• Diversity, Equity, and Inclusion Champion Training University of California 2020
• Ph.D. Graduate Division (Biochemistry) University of California, San Francisco 1993

Websites

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• Profile at UCSF Cancer Center (cancer.ucsf.edu)

Grants and Projects

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• The Genetic Basis of Pediatric Cholestasis, NIH, 2012-2021
• The Genetic Basis of Pediatric Cholestasis, NIH, 2012-2014
• The Genetic Basis of Hereditary Liver Disease, NIH, 2000-2014
• The Genetic Basis of Cholestasis, NIH, 1996-2013
• The Genetic Basis of Cholestasis, NIH, 1996-2011
• Linkage Disequilibrium Mapping of Bipolar Disorder, NIH, 1995-1900

Publications (61)

Top publication keywords:
Pregnancy ComplicationsBile Acids and SaltsAvitaminosisCholestasis, IntrahepaticATP-Binding Cassette TransportersLymphedemaAdenosine TriphosphatasesHydrops FetalisPregnancy OutcomeUbiquitin-Specific ProteasesMutationCholestasisCoenzyme A LigasesPhenylbutyratesAcyltransferases

• Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease.
  Hepatology (Baltimore, Md.) 2022 Leung DH, Devaraj S, Goodrich NP, Chen X, Rajapakshe D, Ye W, Andreev V, Minard CG, Guffey D, Molleston JP, Bass LM, Karpen SJ, Kamath BM, Wang KS, Sundaram SS, Rosenthal P, McKiernan P, Loomes KM, …
• Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
  Hepatology communications 2021 Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M, Bull LN, Thompson RJ, University of Washington Center for Mendelian …
• Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.
  Journal of pediatric gastroenterology and nutrition 2021 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…
• ATP8B1 Deficiency. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al., editors
  2021 Bull LN, Morotti R, Squires JE. 2001 Oct 15 [Updated 2021 Sep 9].
• Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
  Journal of pediatric gastroenterology and nutrition 2021 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, …

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• Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.
  World journal of clinical cases 2021 Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN
• Cholestasis Due to USP53 Deficiency.
  Journal of pediatric gastroenterology and nutrition 2021 Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ
• Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis.
  The lancet. Gastroenterology & hepatology 2021 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, …
• Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
  Gastroenterology 2021 Pham DH, Kudira R, Xu L, Valencia CA, Ellis JL, Shi T, Evason KJ, Osuji I, Matuschek N, Pfuhler L, Mullen M, Mohanty SK, Husami A, Bull LN, Zhang K, Wali S, Yin C, Miethke A
• Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
  Hepatology (Baltimore, Md.) 2019 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, …
• Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses.
  Lancet (London, England) 2019 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, …
• Progressive Familial Intrahepatic Cholestasis.
  Clinics in liver disease 2018 Bull LN, Thompson RJ
• Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
  Hepatology communications 2018 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, …
• Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis.
  Hepatology (Baltimore, Md.) 2017 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, …
• Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
  Journal of hepatology 2016 Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J, University of Washington Center for Mendelian Genomics, Bull L, …
• ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes.
  Hepatology (Baltimore, Md.) 2016 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
• Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping.
  PloS one 2015 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
• Treating genetic disease: Expanding the options.
  Hepatology (Baltimore, Md.) 2015 Thompson RJ, Bull LN
• Mutations in TJP2 cause progressive cholestatic liver disease.
  Nature genetics 2014 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, University of …
• Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test.
  Hepatology (Baltimore, Md.) 2014 Bull LN, Vargas J
• CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
  PloS one 2013 Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN
• Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
  Gastroenterology 2013 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
• Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
  World journal of gastroenterology 2012 Hadžic N, Bull LN, Clayton PT, Knisely AS
• Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort.
  PloS one 2012 Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L
• Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
  Journal of hepatology 2010 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 …
• Strain background modifies phenotypes in the ATP8B1-deficient mouse.
  PloS one 2010 Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN
• ATP8B1 is essential for maintaining normal hearing.
  Proceedings of the National Academy of Sciences of the United States of America 2009 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
• Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion.
  BMC gastroenterology 2008 Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM
• Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.
  Gastroenterology 2008 Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP
• Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
  Gastroenterology 2008 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,…
• Intestinal bile salt absorption in Atp8b1 deficient mice.
  Journal of hepatology 2007 Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP
• Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.
  Scandinavian journal of gastroenterology 2006 Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J
• Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
  Hepatology (Baltimore, Md.) 2006 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, …
• Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
  Hepatology (Baltimore, Md.) 2006 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
• Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2.
  Journal of pediatric gastroenterology and nutrition 2006 Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J
• VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
  The Journal of pediatrics 2006 Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS
• Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
  Gastroenterology 2004 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
• Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
  Hepatology (Baltimore, Md.) 2004 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, …
• Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.
  Gastroenterology 2004 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
• A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion.
  Human molecular genetics 2004 Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB
• Molecular basis of intrahepatic cholestasis.
  Annals of medicine 2004 Carlton VE, Pawlikowska L, Bull LN
• Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
  Nature genetics 2003 Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN
• Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
  The Journal of pediatrics 2003 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 …
• Hereditary forms of intrahepatic cholestasis.
  Current opinion in genetics & development 2002 Bull LN
• FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
  Seminars in liver disease 2001 van Mil SW, Klomp LW, Bull LN, Houwen RH
• A missense mutation in FIC1 is associated with greenland familial cholestasis.
  Hepatology (Baltimore, Md.) 2000 Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH
• Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.
  American journal of human genetics 2000 Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB
• Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol.
  Gastroenterology 2000 Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS
• Compound microsatellite repeats: practical and theoretical features.
  Genome research 1999 Bull LN, Pabón-Peña CR, Freimer NB
• [Recurrent familial intrahepatic cholestasis in the Faroe Islands].
  Ugeskrift for laeger 1999 Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N
• Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
  Human genetics 1999 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, …
• Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
  Hepatology (Baltimore, Md.) 1999 Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH
• A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
  Nature genetics 1998 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 …
• A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
  Nature genetics 1998 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
• Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.
  Human genetics 1997 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…
• Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
  American journal of human genetics 1997 Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ
• Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
  Hepatology (Baltimore, Md.) 1997 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…
• In search of a gene for hereditary cholestasis.
  Biochemical and molecular medicine 1996 Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B
• Sensitivity of HincII to CpG methylation.
  Nucleic acids research 1993 Bull LN, Hewitt JE, Cox DR, Myers RM
• Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
  American journal of human genetics 1992 Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR
• A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.
  Proceedings of the National Academy of Sciences of the United States of America 1990 Pritchard C, Casher D, Bull L, Cox DR, Myers RM