A S Knisely
Affiliation: King's College London
- Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary DiversionKaran 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...
- Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyA 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...
- Trafficking and transporter disorders in pediatric cholestasisA 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...
- Progressive familial intrahepatic cholestasis: an updateA S Knisely
Institute of Liver Studies, King's College Hospital, Denmark Hill, SE5 9RS, London, UK
Pediatr Dev Pathol 7:309-14. 2004
- Biliary tract malformationsA 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...
- Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 familiesSandra 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...
- Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicingJane 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...
- Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiencyNedim 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...
- Selective use of endoscopic retrograde cholangiopancreatography in the diagnosis of biliary atresia in infants younger than 100 daysNaresh 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...
- Auxiliary transplantation for acute liver failure: Histopathological study of native liver regenerationAlberto 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...
- Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolismCatherine 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...
- Liver after hepatocyte transplantation for liver-based metabolic disorders in childrenAlberto 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...
- Vanishing liver tumoursP Peddu
Department of Radiology, King s College Hospital, London, UK
Clin Radiol 63:329-39. 2008....
- Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndromeJane 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...
- Successful pregnancy after liver transplantation in progressive familial intrahepatic cholestasis, type 1W 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...
- Role of pressure and pancreatic reflux in the aetiology of choledochal malformationC 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...
- Neonatal hemochromatosisA 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...
- A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisS 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)...
- A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adultsDaniel Gotthardt
Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany
Hepatology 48:1157-66. 2008..Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease...
- Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinomaA 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...
- A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasisL 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...
- Progressive familial intrahepatic cholestasis: a personal perspectiveA 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...
- A missense mutation in FIC1 is associated with greenland familial cholestasisL 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...
- Progression of hepatic damage during cold storage after procurement in a liver and kidney donor with HELLP syndromeK 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...
- Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndromeG 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...
- Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAATVictoria 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...
- A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretionLudmila 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...
- Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activityFrank 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...
- Nomenclature of the finer branches of the biliary tree: canals, ductules, and ductular reactions in human liversTania A Roskams
Department of Pathology, University Hospitals, University of Leuven, Leuven, Belgium
Hepatology 39:1739-45. 2004....
- Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasisJanneke 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...
- Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transportCoen 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...
- Deficiency of BSEP in PFIC with hepatocellular malignancyA S Knisely
Pediatr Transplant 10:644-5; author reply 646. 2006
- Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis regionV 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...