Laura Bull, PhD

Title(s)Professor, Medicine
SchoolSchool of Medicine
Address513 Parnassus Ave, HSE, #1419
San Francisco CA 94143
Phone415-502-0744
ORCID ORCID Icon0000-0001-8847-3459 Additional info
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    Collapse Biography 
    Collapse Education and Training
    University of California, San FranciscoPh.D.1993 Graduate Division (Biochemistry)
    University of California, San Francisco, CA2020Diversity, Equity, and Inclusion Champion Training

    Collapse Overview 
    Collapse Overview
    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.

    Collapse Research 
    Collapse Research Activities and Funding
    The Genetic Basis of Pediatric Cholestasis
    NIH R01DK094828Sep 24, 2012 - Aug 31, 2021
    Role: Contact PI (MPI grant)
    The Genetic Basis of Pediatric Cholestasis
    NIH R56DK094828Sep 24, 2012 - Aug 31, 2014
    Role: Principal Investigator
    The Genetic Basis of Hereditary Liver Disease
    NIH R01DK058214Jul 1, 2000 - Jun 30, 2014
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH R56DK050697Feb 1, 1996 - Aug 31, 2013
    Role: Principal Investigator
    The Genetic Basis of Cholestasis
    NIH R01DK050697Feb 1, 1996 - Apr 30, 2011
    Role: Principal Investigator
    LINKAGE DISEQUILIBRIUM MAPPING OF BIPOLAR DISORDER
    NIH F32MH011128Nov 9, 1995
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease. Hepatology. 2023 02 01; 77(2):530-545. 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, Jensen MK, Horslen SP, Bezerra JA, Magee JC, Merion RM, Sokol RJ, Shneider BL, Alonso E, Bass L, Kelly S, Riordan M, Melin-Aldana H, Bezerra J, Bove K, Heubi J, Miethke A, Tiao G, Denlinger J, Chapman E, Sokol R, Feldman A, Mack C, Narkewicz M, Suchy F, Sundaram SS, Van Hove J, Garcia B, Kauma M, Kocher K, Steinbeiss M, Lovell M, Loomes KM, Piccoli D, Rand E, Russo P, Spinner N, Erlichman J, Stalford S, Pakstis D, King S, Squires R, Sindhi R, Venkat V, Bukauskas K, McKiernan P, Haberstroh L, Squires J, Rosenthal P, Bull L, Curry J, Langlois C, Kim G, Teckman J, Kociela V, Nagy R, Patel S, Cerkoski J, Molleston JP, Bozic M, Subbarao G, Klipsch A, Sawyers C, Cummings O, Horslen SP, Murray K, Hsu E, Cooper K, Young M, Finn L, Kamath BM, Ng V, Quammie C, Putra J, Sharma D, Parmar A, Guthery S, Jensen K, Rutherford A, Lowichik A, Book L, Meyers R, Hall T, Wang KS, Michail S, Thomas D, Goodhue C, Kohli R, Wang L, Soufi N, Thomas D, Karpen S, Gupta N, Romero R, Vos MB, Tory R, Berauer JP, Abramowsky C, McFall J, Shneider BL, Harpavat S, Hertel P, Leung D, Tessier M, Schady D, Cavallo L, Olvera D, Banks C, Tsai C, Thompson R, Doo E, Hoofnagle J, Sherker A, Torrance R, Hall S, Magee J, Merion R, Spino C, Ye W, Childhood Liver Disease Research Network. PMID: 36069569; PMCID: PMC10151059.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    2. Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1. Hepatol Commun. 2022 03; 6(3):473-479. 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 Genomics. PMID: 34677006; PMCID: PMC8870026.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    3. Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study. J Pediatr Gastroenterol Nutr. 2021 10 01; 73(4):478-484. 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). PMID: 34310436; PMCID: PMC8448404.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. 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]. View Publication.
    5. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. J Pediatr Gastroenterol Nutr. 2021 08 01; 73(2):169-177. 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). PMID: 34016879; PMCID: PMC8373673.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    6. Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report. World J Clin Cases. 2021 May 26; 9(15):3631-3636. Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawlowska J, Bull LN. PMID: 34046462; PMCID: PMC8130085.
      View in: PubMed   Mentions: 2  
    7. Cholestasis Due to USP53 Deficiency. J Pediatr Gastroenterol Nutr. 2021 05 01; 72(5):667-673. Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. PMID: 33075013; PMCID: PMC8549450.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    8. Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis. Lancet Gastroenterol Hepatol. 2021 07; 6(7):547-558. 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. PMID: 33915090; PMCID: PMC8192305.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    9. Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms. Gastroenterology. 2021 07; 161(1):287-300.e16. 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. PMID: 33771553; PMCID: PMC8238842.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimals
    10. Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 09; 70(3):899-910. 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, Childhood Liver Disease Research Network (ChiLDReN). PMID: 30664273; PMCID: PMC6642859.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    11. Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses. Lancet. 2019 03 02; 393(10174):899-909. 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. PMID: 30773280; PMCID: PMC6396441.
      View in: PubMed   Mentions: 132     Fields:    Translation:Humans
    12. Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2018 11; 22(4):657-669. Bull LN, Thompson RJ. PMID: 30266155.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    13. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. Hepatol Commun. 2018 May; 2(5):515-528. 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. PMID: 29761168; PMCID: PMC5944593.
      View in: PubMed   Mentions: 16     Fields:    
    14. Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis. Hepatology. 2017 05; 65(5):1645-1654. 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, Childhood Liver Disease Research Network (ChiLDReN). PMID: 28027587; PMCID: PMC5397365.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    15. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol. 2016 12; 65(6):1179-1187. 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, Thompson RJ. PMID: 27469900; PMCID: PMC5116266.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    16. ATP11C targets basolateral bile salt transporter proteins in mouse central hepatocytes. Hepatology. 2016 07; 64(1):161-74. 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. PMID: 26926206; PMCID: PMC5266587.
      View in: PubMed   Mentions: 11     Fields:    Translation:AnimalsCells
    17. Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping. PLoS One. 2015; 10(6):e0131211. 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. PMID: 26126184; PMCID: PMC4488338.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    18. Treating genetic disease: Expanding the options. Hepatology. 2015 Aug; 62(2):349-51. Thompson RJ, Bull LN. PMID: 25820708.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    19. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr; 46(4):326-8. 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 Washington Center for Mendelian Genomics, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. PMID: 24614073; PMCID: PMC4061468.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansAnimalsCells
    20. Serum bile acids in intrahepatic cholestasis of pregnancy: not just a diagnostic test. Hepatology. 2014 Apr; 59(4):1220-2. Bull LN, Vargas J. PMID: 24123247; PMCID: PMC4370293.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    21. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One. 2013; 8(9):e75770. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN. PMID: 24086631; PMCID: PMC3784396.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    22. Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. Gastroenterology. 2013 May; 144(5):945-955.e6; quiz e14-5. 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. PMID: 23415802; PMCID: PMC4175397.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    23. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. World J Gastroenterol. 2012 Jul 07; 18(25):3322-6. Hadžic N, Bull LN, Clayton PT, Knisely AS. PMID: 22783059; PMCID: PMC3391772.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    24. Fetal outcomes in pregnancies complicated by intrahepatic cholestasis of pregnancy in a Northern California cohort. PLoS One. 2012; 7(3):e28343. Rook M, Vargas J, Caughey A, Bacchetti P, Rosenthal P, Bull L. PMID: 22403605; PMCID: PMC3293870.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    25. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010 Jul; 53(1):170-8. 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. PMID: 20447715; PMCID: PMC3042805.
      View in: PubMed   Mentions: 63     Fields:    Translation:Humans
    26. Strain background modifies phenotypes in the ATP8B1-deficient mouse. PLoS One. 2010 Feb 01; 5(2):e8984. Shah S, Sanford UR, Vargas JC, Xu H, Groen A, Paulusma CC, Grenert JP, Pawlikowska L, Sen S, Elferink RP, Bull LN. PMID: 20126555; PMCID: PMC2813882.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    27. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24):9709-14. 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. PMID: 19478059; PMCID: PMC2700994.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimals
    28. Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion. BMC Gastroenterol. 2008 Oct 20; 8:47. Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely As, Whitington PF, Green RM. PMID: 18937870; PMCID: PMC2585081.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    29. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology. 2008 Jun; 134(7):2091-100. Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. PMID: 18466903.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    30. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr; 134(4):1203-14. 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. PMID: 18395098.
      View in: PubMed   Mentions: 108     Fields:    Translation:Humans
    31. Intestinal bile salt absorption in Atp8b1 deficient mice. J Hepatol. 2007 Jul; 47(1):114-22. Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. PMID: 17448567.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    32. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1. Scand J Gastroenterol. 2006 Dec; 41(12):1480-3. Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. PMID: 17101580.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    33. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006 Aug; 44(2):478-86. 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. PMID: 16871584.
      View in: PubMed   Mentions: 113     Fields:    Translation:Humans
    34. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006 Jul; 44(1):195-204. 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. PMID: 16799980.
      View in: PubMed   Mentions: 84     Fields:    Translation:AnimalsCells
    35. Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. J Pediatr Gastroenterol Nutr. 2006 Apr; 42(4):416-8. Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. PMID: 16641580.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    36. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006 Feb; 148(2):269-71. Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. PMID: 16492441.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    37. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004 Aug; 127(2):379-84. 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. PMID: 15300568.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansCells
    38. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004 Jul; 40(1):27-38. 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. PMID: 15239083.
      View in: PubMed   Mentions: 81     Fields:    Translation:Humans
    39. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004 Mar; 126(3):756-64. 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. PMID: 14988830.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    40. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004 Apr 15; 13(8):881-92. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. PMID: 14976163.
      View in: PubMed   Mentions: 32     Fields:    Translation:Animals
    41. Molecular basis of intrahepatic cholestasis. Ann Med. 2004; 36(8):606-17. Carlton VE, Pawlikowska L, Bull LN. PMID: 15768832.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    42. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May; 34(1):91-6. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN. PMID: 12704386.
      View in: PubMed   Mentions: 96     Fields:    Translation:HumansCells
    43. Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. J Pediatr. 2003 Apr; 142(4):441-7. 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. PMID: 12712065.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    44. Hereditary forms of intrahepatic cholestasis. Curr Opin Genet Dev. 2002 Jun; 12(3):336-42. Bull LN. PMID: 12076678.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    45. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis. 2001 Nov; 21(4):535-44. van Mil SW, Klomp LW, Bull LN, Houwen RH. PMID: 11745041.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    46. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 2000 Dec; 32(6):1337-41. Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH. PMID: 11093741.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    47. Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet. 2000 Oct; 67(4):994-9. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB. PMID: 10968776; PMCID: PMC1287903.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    48. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology. 2000 Jul; 119(1):188-95. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS. PMID: 10889168.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    49. Compound microsatellite repeats: practical and theoretical features. Genome Res. 1999 Sep; 9(9):830-8. Bull LN, Pabón-Peña CR, Freimer NB. PMID: 10508841; PMCID: PMC310808.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    50. [Recurrent familial intrahepatic cholestasis in the Faroe Islands]. Ugeskr Laeger. 1999 Aug 30; 161(35):4871-4. Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N. PMID: 10778315.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    51. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet. 1999 Mar; 104(3):241-8. 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, et al. PMID: 10323248.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    52. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology. 1999 Feb; 29(2):506-8. Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH. PMID: 9918928.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    53. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov; 20(3):233-8. 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. PMID: 9806540.
      View in: PubMed   Mentions: 219     Fields:    Translation:HumansAnimalsCells
    54. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998 Mar; 18(3):219-24. 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. PMID: 9500542.
      View in: PubMed   Mentions: 177     Fields:    Translation:HumansCells
    55. Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. Hum Genet. 1997 Sep; 100(3-4):382-7. 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. PMID: 9272159.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    56. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet. 1997 Sep; 61(3):630-3. Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. PMID: 9326328; PMCID: PMC1715942.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    57. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997 Jul; 26(1):155-64. 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. PMID: 9214465.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    58. In search of a gene for hereditary cholestasis. Biochem Mol Med. 1996 Dec; 59(2):98-103. Sela-Herman S, Bull L, Lomri N, Rahmaoui C, Luther T, Hammerman P, Genant J, Freimer N, Scharschmidt B. PMID: 8986630.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    59. Sensitivity of HincII to CpG methylation. Nucleic Acids Res. 1993 Apr 25; 21(8):2021. Bull LN, Hewitt JE, Cox DR, Myers RM. PMID: 8493118; PMCID: PMC309454.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    60. Recombination of 4p16 DNA markers in an unusual family with Huntington disease. Am J Hum Genet. 1992 Jun; 50(6):1218-30. Pritchard C, Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR, et al. PMID: 1350884; PMCID: PMC1682573.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    61. A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients. Proc Natl Acad Sci U S A. 1990 Sep; 87(18):7309-13. Pritchard C, Casher D, Bull L, Cox DR, Myers RM. PMID: 2144903; PMCID: PMC54733.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
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