A S Knisely

Summary

Affiliation: King's College London
Country: UK

Publications

  1. ncbi request reprint Progressive familial intrahepatic cholestasis: an update
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, SE5 9RS, London, UK
    Pediatr Dev Pathol 7:309-14. 2004
  2. ncbi request reprint Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
    A S Knisely
    Institute of Liver Studies, King s College Hospital, London, UK
    Hepatology 44:478-86. 2006
  3. pmc Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion
    Karan M Emerick
    Children s Memorial Hospital, Chicago, IL, USA
    BMC Gastroenterol 8:47. 2008
  4. ncbi request reprint Biliary tract malformations
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, London, United Kingdom
    Am J Med Genet A 122:343-50. 2003
  5. doi request reprint Trafficking and transporter disorders in pediatric cholestasis
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, London SE5 9RS, UK
    Clin Liver Dis 14:619-33. 2010
  6. doi request reprint Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
    Sandra S Strautnieks
    Institute of Liver Studies, King s College London School of Medicine at King s College Hospital, London, England
    Gastroenterology 134:1203-14. 2008
  7. doi request reprint Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
    Jane A Byrne
    Division of Gene and Cell Based Therapy, King s College London School of Medicine, London, UK
    Hepatology 49:553-67. 2009
  8. pmc Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
    Nedim Hadzic
    Paediatric Liver Service and Institute of Liver Studies, King s College Hospital, London SE5 9RS, United Kingdom
    World J Gastroenterol 18:3322-6. 2012
  9. doi request reprint Selective use of endoscopic retrograde cholangiopancreatography in the diagnosis of biliary atresia in infants younger than 100 days
    Naresh P Shanmugam
    Paediatric Liver Centre, Institute of Liver Studies, Department of Radiology, King s College Hospital, London, UK
    J Pediatr Gastroenterol Nutr 49:435-41. 2009
  10. doi request reprint Auxiliary transplantation for acute liver failure: Histopathological study of native liver regeneration
    Alberto Quaglia
    Institute of Liver Studies, King s College Hospital, London, United Kingdom
    Liver Transpl 14:1437-48. 2008

Detail Information

Publications35

  1. ncbi request reprint Progressive familial intrahepatic cholestasis: an update
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, SE5 9RS, London, UK
    Pediatr Dev Pathol 7:309-14. 2004
  2. ncbi request reprint Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
    A S Knisely
    Institute of Liver Studies, King s College Hospital, London, UK
    Hepatology 44:478-86. 2006
    ..In conclusion, PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11...
  3. pmc Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion
    Karan M Emerick
    Children s Memorial Hospital, Chicago, IL, USA
    BMC Gastroenterol 8:47. 2008
    ..PEBD can reduce disease progression, and examining the alterations in biliary lipid composition may be a prognostic factor for outcome...
  4. ncbi request reprint Biliary tract malformations
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, London, United Kingdom
    Am J Med Genet A 122:343-50. 2003
    ..The concept of "feeble cholangiocytes" postnatally susceptible to the effects of "toxic bile" is presented...
  5. doi request reprint Trafficking and transporter disorders in pediatric cholestasis
    A S Knisely
    Institute of Liver Studies, King s College Hospital, Denmark Hill, London SE5 9RS, UK
    Clin Liver Dis 14:619-33. 2010
    ..Demonstrating BSEP expression can direct attention to bile acid synthesis disorders. Immunostaining for multidrug resistance-associated protein 2 serves principally as a control for adequacy of processing...
  6. doi request reprint Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
    Sandra S Strautnieks
    Institute of Liver Studies, King s College London School of Medicine at King s College Hospital, London, England
    Gastroenterology 134:1203-14. 2008
    ..We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy...
  7. doi request reprint Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
    Jane A Byrne
    Division of Gene and Cell Based Therapy, King s College London School of Medicine, London, UK
    Hepatology 49:553-67. 2009
    ..These results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to BSEP deficiency...
  8. pmc Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
    Nedim Hadzic
    Paediatric Liver Service and Institute of Liver Studies, King s College Hospital, London SE5 9RS, United Kingdom
    World J Gastroenterol 18:3322-6. 2012
    ..CCL was normally expressed. BAAT expression was not detected. Immunostaining may facilitate diagnosis in bile-acid amidation defects...
  9. doi request reprint Selective use of endoscopic retrograde cholangiopancreatography in the diagnosis of biliary atresia in infants younger than 100 days
    Naresh P Shanmugam
    Paediatric Liver Centre, Institute of Liver Studies, Department of Radiology, King s College Hospital, London, UK
    J Pediatr Gastroenterol Nutr 49:435-41. 2009
    ..We investigated the role and safety of endoscopic retrograde cholangiopancreatography (ERCP) in diagnosing biliary atresia (BA) in prolonged neonatal cholestasis, when standard workup was inconclusive...
  10. doi request reprint Auxiliary transplantation for acute liver failure: Histopathological study of native liver regeneration
    Alberto Quaglia
    Institute of Liver Studies, King s College Hospital, London, United Kingdom
    Liver Transpl 14:1437-48. 2008
    ..The likelihood of histological recovery appears to be minimal in livers with total hepatocyte loss at the time of ALT...
  11. doi request reprint Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism
    Catherine P K Chong
    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK
    J Inherit Metab Dis 35:521-30. 2012
    ..This is the first report of a mutation in SLC27A5. The amidation defect may have contributed to cholestatic liver disease in the setting of prematurity, parenteral nutrition, and homozygosity for an ABCB11 mutation...
  12. ncbi request reprint Liver after hepatocyte transplantation for liver-based metabolic disorders in children
    Alberto Quaglia
    Institute of Liver Studies, King s College Hospital and King s College London School of Medicine, London, UK
    Cell Transplant 17:1403-14. 2008
    ..Further studies are needed to monitor donor hepatocytes in vivo, to quantify better the efficacy of the procedure and to find ways of improving engraftment and function...
  13. pmc Primary biliary cirrhosis-specific antimitochondrial antibodies in neonatal haemochromatosis
    Daniel S Smyk
    Institute of Liver Studies, GI and Nutrition Centre, King s College London School of Medicine at King s College Hospital, Denmark Hill Campus, London SE5 9RS, UK
    Clin Dev Immunol 2013:642643. 2013
    ..We studied an infant with NH and his mother whose sera contained antimitochondrial antibody (AMA), the hallmark of primary biliary cirrhosis (PBC)...
  14. pmc Maternal cholestasis during pregnancy programs metabolic disease in offspring
    Georgia Papacleovoulou
    Institute of Reproductive and Developmental Biology, Hammersmith Hospital, Imperial College London, London, United Kingdom
    J Clin Invest 123:3172-81. 2013
    ..We believe this is the first report showing that cholestatic pregnancy in the absence of altered maternal BMI or diabetes can program metabolic disease in the offspring. ..
  15. ncbi request reprint Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome
    Jane A Byrne
    Division of Gene and Cell Based Therapy, King s College London School of Medicine, London, UK
    Lab Invest 87:1138-48. 2007
    ..Liver CD10 in childhood appears to undergo reduced synthesis or rapid degradation, which persists in AGS. Absence of CD10 expression thus may limit NEA as a marker of cholestasis in young patients and in AGS...
  16. doi request reprint Vanishing liver tumours
    P Peddu
    Department of Radiology, King s College Hospital, London, UK
    Clin Radiol 63:329-39. 2008
    ....
  17. doi request reprint Successful pregnancy after liver transplantation in progressive familial intrahepatic cholestasis, type 1
    W J Cash
    National Liver Transplant Unit, St Vincent s University Hospital, Dublin, Ireland Institute of Liver Studies, King s College Hospital, London, UK
    Pediatr Transplant 15:E174-6. 2011
    ..The pregnancy and its management are described; implications are discussed...
  18. doi request reprint Role of pressure and pancreatic reflux in the aetiology of choledochal malformation
    C Turowski
    Department of Paediatric Surgery, King s College Hospital, London, UK
    Br J Surg 98:1319-26. 2011
    ..This hypothesis was tested clinically by evaluating the relationship between epithelial histology, choledochal pressure and degree of pancreatic reflux...
  19. ncbi request reprint Neonatal hemochromatosis
    A S Knisely
    Institute of Liver Studies, King s College Hospital, London, UK
    Gastroenterol Clin North Am 32:877-89, vi-vii. 2003
    ..Immunomodulation during pregnancy at risk appears to lessen the severity of disease...
  20. ncbi request reprint A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    S S Strautnieks
    Department of Paediatrics, University College London Medical School, UK
    Nat Genet 20:233-8. 1998
    ..The product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro. These data provide evidence that SPGP is the human bile salt export pump (BSEP)...
  21. ncbi request reprint A missense mutation in FIC1 is associated with greenland familial cholestasis
    L W Klomp
    Department of Pediatric Gastroenterology, University Medical Center, Utrecht, The Netherlands
    Hepatology 32:1337-41. 2000
    ..These data establish Greenland familial cholestasis as a form of progressive familial intrahepatic cholestasis type 1 and further underscore the importance of unimpeded FIC1 activity for normal bile formation...
  22. ncbi request reprint Nomenclature of the finer branches of the biliary tree: canals, ductules, and ductular reactions in human livers
    Tania A Roskams
    Department of Pathology, University Hospitals, University of Leuven, Leuven, Belgium
    Hepatology 39:1739-45. 2004
    ....
  23. ncbi request reprint Progressive familial intrahepatic cholestasis: a personal perspective
    A S Knisely
    Department of Pathology, Division of Surgical Pathology, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA
    Pediatr Dev Pathol 3:113-25. 2000
    ..Other forms of PFIC may yet be identified. The roles of FIC1 and BSEP in the secretion of bile acids into bile and in the post-secretory modification of bile are under study...
  24. ncbi request reprint A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    L N Bull
    Department of Psychiatry and Liver Center, University of California San Francisco, 94143, USA
    Nat Genet 18:219-24. 1998
    ..Its protein product is likely to play an essential role in enterohepatic circulation of bile acids; further characterization of FIC1 will facilitate understanding of normal bile formation and cholestasis...
  25. ncbi request reprint Progression of hepatic damage during cold storage after procurement in a liver and kidney donor with HELLP syndrome
    K J Woodside
    Department of Surgery, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555-0534, USA
    Transplantation 72:1990-3. 2001
    ..CONCLUSION: Livers procured from patients with HELLP syndrome should be carefully evaluated for progression of hepatic damage during cold storage and transport...
  26. ncbi request reprint Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome
    G H Deutsch
    Department of Pathology, The Children's Hospital and the University of Colorado School of Medicine, 1056 East 19th Avenue, Denver, CO 80218, USA
    Pediatr Dev Pathol 4:559-63. 2001
    ..The progression of bile duct abnormalities is discussed in the context of the role postulated for JAG1 in postnatal liver growth and development...
  27. ncbi request reprint Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
    Victoria E H Carlton
    Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, California 94110, USA
    Nat Genet 34:91-6. 2003
    ..Mutations in both TJP2 and BAAT may disrupt bile acid transport and circulation. Inheritance seems to be oligogenic, with genotype at BAAT modifying penetrance in individuals homozygous with respect to the mutation in TJP2...
  28. doi request reprint A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults
    Daniel Gotthardt
    Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany
    Hepatology 48:1157-66. 2008
    ..2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity...
  29. ncbi request reprint A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion
    Ludmila Pawlikowska
    UCSF Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, San Francisco, California, USA
    Hum Mol Genet 13:881-92. 2004
    ..The mouse phenotype reveals that loss of Atp8b1 disrupts bile salt homeostasis without impairment of canalicular bile secretion; in humans this process is likely to be obscured by early onset of severe liver disease...
  30. ncbi request reprint Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma
    A O Scheimann
    Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA
    J Pediatr 150:556-9. 2007
    ..This observation suggests the need for hepatobiliary-malignancy surveillance and early consideration for liver transplantation...
  31. ncbi request reprint Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity
    Frank Chen
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Gastroenterology 126:756-64. 2004
    ..The mechanisms by which mutations in the familial intrahepatic cholestasis-1 gene cause Byler's disease (progressive familial intrahepatic cholestasis type 1) are unknown...
  32. ncbi request reprint Deficiency of BSEP in PFIC with hepatocellular malignancy
    A S Knisely
    Pediatr Transplant 10:644-5; author reply 646. 2006
  33. ncbi request reprint Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport
    Coen C Paulusma
    Amsterdam Liver Center, Department of Experimental Hepatology, Academic Medical Center, Amsterdam, The Netherlands
    Hepatology 44:195-204. 2006
    ..The loss of phospholipid asymmetry may subsequently impair bile salt transport and cause cholestasis...
  34. ncbi request reprint Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis
    Janneke M Stapelbroek
    Department of Pediatric Gastroenterology, University Medical Center Utrecht, The Netherlands
    Hepatology 43:51-3. 2006
    ..In conclusion, we propose that temporary endoscopic nasobiliary drainage should be considered in cholestatic BRIC patients...
  35. ncbi request reprint Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
    V E Carlton
    Department of Biochemistry and Biophysics, University of California, San Francisco, USA
    Hum Mol Genet 4:1049-53. 1995
    ..Cloning of the gene (or genes) responsible for PFIC and BRIC will likely provide important insights into this pathway...