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Alex Knisely

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Holly Smith; Anna Straatman-Iwanowska; Steven P Watson; Chong Ae Kim; Ekaterina Gogolina; Carol Inward; Judith Klumperman; Alex S Knisely; Kim Reay; Rene Romero; Barbara Sibbles; Oanez Ackermann; Canan Aygun; Blerida Banushi; Clarisse Baumann; Christopher K Bruce; Fatma Cakmak Celik; Hakan Cangul; Richard Chang; Richard Coward; Andrew R Cullinane; Carlo Dionisi Vici; Romain Galmes; Paul Gissen
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Ling-Juan Fang; Alex S Knisely; Li-Yan Liu; Yi Lu; Xiao-Hong Wang; Hui Yu; Jian-She Wang
Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations.
Aglaia Zellos; Milan Jirsa; Lilia Lykopoulou; Andreas Polydorou; Eleftheria Roma; Kalliopi Tanou; Alex S Knisely
Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease.

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All Publications

2012: Holly Smith; Anna Straatman-Iwanowska; Steven P Watson; Chong Ae Kim; Ekaterina Gogolina; Carol Inward; Judith Klumperman; Alex S Knisely; Kim Reay; Rene Romero; Barbara Sibbles; Oanez Ackermann; Canan Aygun; Blerida Banushi; Clarisse Baumann; Christopher K Bruce; Fatma Cakmak Celik; Hakan Cangul; Richard Chang; Richard Coward; Andrew R Cullinane; Carlo Dionisi Vici; Romain Galmes; Paul Gissen
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Human mutation 2012;33(12):1656-64.
2012: Ling-Juan Fang; Alex S Knisely; Li-Yan Liu; Yi Lu; Xiao-Hong Wang; Hui Yu; Jian-She Wang
Chinese children with chronic intrahepatic cholestasis and high γ-glutamyl transpeptidase: clinical features and association with ABCB4 mutations.
Journal of pediatric gastroenterology and nutrition 2012;55(2):150-6.
2012: Aglaia Zellos; Milan Jirsa; Lilia Lykopoulou; Andreas Polydorou; Eleftheria Roma; Kalliopi Tanou; Alex S Knisely
Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease.
Journal of pediatric gastroenterology and nutrition 2012;55(1):88-90.
2011: Kimberley Evason; Kevin E Bove; Milton J Finegold; Alex S Knisely; Sue Rhee; Philip Rosenthal; Alexander G Miethke; Saul J Karpen; Linda D Ferrell; Grace E Kim
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
The American journal of surgical pathology 2011;35(5):687-96.
2011: P Subramaniam; Alex S Knisely; Bernard Portmann; S A Qureshi; Wagih Aclimandos; John Karani; AJ Baker
Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital.
Journal of pediatric gastroenterology and nutrition 2011;52(1):84-9.
2010: Alex S Knisely; Paul Gissen
Trafficking and transporter disorders in pediatric cholestasis.
Clinics in liver disease 2010;14(4):619-33.
2010: Henrik Arnell; Nikos Papadogiannakis; Helen Zemack; Alex S Knisely; Antal Németh; Björn Fischler
Follow-up in children with progressive familial intrahepatic cholestasis after partial external biliary diversion.
Journal of pediatric gastroenterology and nutrition 2010;51(4):494-9.
2010: Alex S Knisely; Diego Vergani
"Neonatal hemochromatosis": a re-vision.
Hepatology (Baltimore, Md.) 2010;51(6):1888-90.
2010: Jane Louise Hartley; Nicholas Constantine Zachos; Ban Dawood; Mark Donowitz; Julia Forman; Rodney J Pollitt; Neil V Morgan; Louise Tee; Paul Gissen; Walter H A Kahr; Alex S Knisely; Steve Watson; David Chitayat; Ian W Booth; Sue Protheroe; Stephen Murphy; Esther de Vries; Deirdre A Kelly; Eamonn R Maher
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Gastroenterology 2010;138(7):2388-98, 2398.e1-2.
2010: Andrew R Cullinane; Anna Straatman-Iwanowska; Andreas Zaucker; Yoshiyuki Wakabayashi; Christopher K Bruce; Guanmei Luo; Fatimah Rahman; Figen Gürakan; Eda Utine; Tanju B Ozkan; Jonas Denecke; Jurica Vukovic; Maja Di Rocco; Hanna Mandel; Hakan Cangul; Randolph P Matthews; Steve G Thomas; Joshua Z Rappoport; Irwin M Arias; Hartwig Wolburg; Alex S Knisely; Deirdre A Kelly; Ferenc Müller; Eamonn R Maher; Paul Gissen
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Nature genetics 2010;42(4):303-12.
2009: Naresh P Shanmugam; Phillip Harrison; John Devlin; Praveen Peddu; Alex S Knisely; Mark Davenport; Nedim Hadzić
Selective use of endoscopic retrograde cholangiopancreatography in the diagnosis of biliary atresia in infants younger than 100 days.
Journal of pediatric gastroenterology and nutrition 2009;49(4):435-41.
2009: Jonathan A Byrne; Sandra S Strautnieks; Gudrun Ihrke; Franco Pagani; Alex S Knisely; Kenneth J Linton; Giorgina Mieli-Vergani; Richard John Thompson
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Hepatology (Baltimore, Md.) 2009;49(2):553-67.
2009: Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; Alex S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation 2009;30(2):E330-7.
2008: Alberto Quaglia; Bernard Portmann; Alex S Knisely; Alex S Knisely; Parthi Srinivasan; Paolo Muiesan; Julia Wendon; Michael A Heneghan; John G O'Grady; Marianne Samyn; Dino Hadzic; Anil Dhawan; Giorgina Mieli-Vergani; Nigel Heaton; Mohamed Rela
Auxiliary transplantation for acute liver failure: Histopathological study of native liver regeneration.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2008;14(10):1437-48.
2008: Enrica Caponcelli; Alex S Knisely; Mark Davenport
Cystic biliary atresia: an etiologic and prognostic subgroup.
Journal of pediatric surgery 2008;43(9):1619-24.
2008: Sandra S Strautnieks; Jonathan A Byrne; Ludmila Pawlikowska; Dita Cebecauerová; Anne Rayner; Laura Dutton; Yvonne Meier; Anthony Antoniou; Bruno Stieger; Henrik Arnell; Figen Ozçay; Hussa F Al-Hussaini; Atif F Bassas; Henkjan J Verkade; Björn Fischler; Antal Németh; Radana Kotalová; Benjamin L Shneider; Joanna Cielecka-Kuszyk; Patricia McClean; Peter F Whitington; Etienne Sokal; Milan Jirsa; Sami H Wali; Irena Jankowska; Joanna Pawłowska; Giorgina Mieli-Vergani; Alex S Knisely; Laura N Bull; Richard John Thompson
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Gastroenterology 2008;134(4):1203-14.
2008: Mark J Austin; Neil I McDougall; Julia Wendon; Elizabeth Sizer; Alex S Knisely; Mohamed Rela; Carol Wilson; Michael E Callender; John G O'Grady; Michael A Heneghan
Safety and efficacy of combined use of sildenafil, bosentan, and iloprost before and after liver transplantation in severe portopulmonary hypertension.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2008;14(3):287-91.
2008: Alberto Quaglia; Sharon C Lehec; Robin D Hughes; Ragai R Mitry; Alex S Knisely; Stephen Devereaux; Julie Richards; Mohamed Rela; Nigel D Heaton; Bernard C Portmann; Anil Dhawan
Liver after hepatocyte transplantation for liver-based metabolic disorders in children.
Cell transplantation 2008;17(12):1403-14.
2007: Jonathan A Byrne; Natalie J Meara; Anne C Rayner; Richard John Thompson; Alex S Knisely
Lack of hepatocellular CD10 along bile canaliculi is physiologic in early childhood and persistent in Alagille syndrome.
Laboratory investigation; a journal of technical methods and pathology 2007;87(11):1138-48.
2007: ANN SCHEIMANN; Sandra S Strautnieks; Alex S Knisely; Jonathan A Byrne; Richard John Thompson; M J Finegold
Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma.
The Journal of pediatrics 2007;150(5):556-9.
2006: Alex S Knisely; Sandra S Strautnieks; Yvonne Meier; Bruno Stieger; Jonathan A Byrne; Bernard Portmann; Laura N Bull; Ludmila Pawlikowska; Banu Bilezikçi; Figen Ozçay; Aranka László; László Tiszlavicz; Lynette Moore; Jeremy Raftos; Henrik Arnell; Björn Fischler; Antal Németh; Nikos Papadogiannakis; Joanna Cielecka-Kuszyk; Irena Jankowska; Joanna Pawłowska; Hector Melín-Aldana; Karan M Emerick; Peter F Whitington; Giorgina Mieli-Vergani; Richard John Thompson
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
Hepatology (Baltimore, Md.) 2006;44(2):478-86.
2006: Alex S Knisely; B C Portmann
Deficiency of BSEP in PFIC with hepatocellular malignancy.
Pediatric transplantation 2006;10(5):644-5; author reply 646.
2006: Coen C Paulusma; Annemiek Groen; Cindy Kunne; Kam S Ho-Mok; Astrid L Spijkerboer; D Rudi de Waart; Frans J Hoek; Heleen Vreeling; Kees A Hoeben; Jan van Marle; Ludmila Pawlikowska; Laura N Bull; Alan F Hofmann; Alex S Knisely; Ronald P J Oude Elferink
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
Hepatology (Baltimore, Md.) 2006;44(1):195-204.
2006: Laura N Bull; Venus Mahmoodi; Alastair J Baker; Rosamond Jones; Sandra S Strautnieks; Richard John Thompson; Alex S Knisely
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.
The Journal of pediatrics 2006;148(2):269-71.
2006: Janneke M Stapelbroek; Karel J van Erpecum; Leo W J Klomp; Niels G Venneman; Thijs P Schwartz; Gerard P van Berge-Henegouwen; John Devlin; Carin M J van Nieuwkerk; Alex S Knisely; Roderick H J Houwen
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis.
Hepatology (Baltimore, Md.) 2006;43(1):51-3.
2005: Matthew R Foxton; Lisa Knight; Alex S Knisely; Ghulam J Mufti; John O'Grady; Paolo Muiesan; Suzanne Norris
Liver transplantation for HCV-related cirrhosis in a patient with gastric mucosa-associated lymphoma (MALToma) pretreated with rituximab.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2005;11(7):839-42.
2004: Suzanne Norris; Chris Taylor; Paolo Muiesan; Bernard Portmann; Alex S Knisely; Matthew J Bowles; Mohamed Rela; Nigel Heaton; John G O'Grady
Outcomes of liver transplantation in HIV-infected individuals: the impact of HCV and HBV infection.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2004;10(10):1271-8.
2004: Alex S Knisely
Progressive familial intrahepatic cholestasis: an update.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2004;7(4):309-14.
2004: Leo W J Klomp; Julie C Vargas; Saskia W C van Mil; Ludmila Pawlikowska; Sandra S Strautnieks; Michiel J T van Eijk; Jenneke A Juijn; Carlos Pabón-Peña; Lauren B Smith; Joseph DeYoung; Jonathan A Byrne; Justijn Gombert; Gerda van der Brugge; Ruud Berger; Irena Jankowska; Joanna Pawlowska; Erica Villa; Alex S Knisely; Richard John Thompson; Nelson B Freimer; Roderick H J Houwen; Laura N Bull
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Hepatology (Baltimore, Md.) 2004;40(1):27-38.
2004: Charalambos Gustav Antoniades; Candice Macdonald; Alex S Knisely; Christopher Taylor; Suzanne Norris
Mitochondrial toxicity associated with HAART following liver transplantation in an HIV-infected recipient.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2004;10(5):699-702.
2004: Ludmila Pawlikowska; Annemiek Groen; Elaine F Eppens; Cindy Kunne; Roelof Ottenhoff; Norbert Looije; Alex S Knisely; Nigel P Killeen; Laura N Bull; Ronald P J Oude Elferink; Nelson B Freimer
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;13(8):881-92.
2004: Paul Gissen; Colin A Johnson; Neil V Morgan; Janneke M Stapelbroek; Tim Forshew; Wendy N Cooper; Patrick J McKiernan; Leo W J Klomp; Andrew A M Morris; James Wraith; Patricia McClean; Sally A Lynch; Richard John Thompson; Bryan Lo; Oliver W Quarrell; Maja Di Rocco; Richard C Trembath; Hanna Mandel; S Wali; Fiona E Karet; Alex S Knisely; Roderick H J Houwen; Deirdre A Kelly; Eamonn R Maher
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nature genetics 2004;36(4):400-4.
2003: Victoria E H Carlton; Baruch Z Harris; Erik G Puffenberger; A K Batta; Alex S Knisely; Donna L Robinson; Kevin A Strauss; Benjamin L Shneider; Wendell A Lim; Gerald Salen; D Holmes Morton; Laura N Bull
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Nature genetics 2003;34(1):91-6.
2003: Martin Frühwirth; Andreas R Janecke; Thomas Müller; Victoria E H Carlton; Florian Kronenberg; Felix Offner; Alex S Knisely; Silvana Geleff; Eyun J Song; Burkhard Simma; Alfred Königsrainer; Raimund Margreiter; CB van Der Hagen; Kristin Louise Eiklid; Oystein Aagenaes; Laura N Bull; Helmut Ellemunter
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
The Journal of pediatrics 2003;142(4):441-7.
2001: Daiki Abukawa; Yusaku Tazawa; T Noro; M Nakagawa; Kazuie Iinuma; K Sugiyama; Alex S Knisely
Cytoplasmic inclusion bodies and minimal hepatitis: fibrinogen storage without hypofibrinogenemia.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2001;4(3):304-9.
2000: Leo W J Klomp; Laura N Bull; Alex S Knisely; M A van Der Doelen; Jenneke A Juijn; Ruud Berger; S Forget; I M Nielsen; Hans Eiberg; Roderick H J Houwen
A missense mutation in FIC1 is associated with greenland familial cholestasis.
Hepatology (Baltimore, Md.) 2000;32(6):1337-41.
2000: Laura N Bull; E Roche; Eyun J Song; J Pedersen; Alex S Knisely; CB van Der Hagen; Kristin Louise Eiklid; Oystein Aagenaes; Nelson B Freimer
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;67(4):994-9.
1999: Laura N Bull; Jenneke A Juijn; M Liao; M J van Eijk; Richard J Sinke; N L Stricker; Joseph DeYoung; Victoria E H Carlton; S Baharloo; Leo W J Klomp; Daiki Abukawa; David Barton; N M Bass; B Bourke; Brendan Drumm; Irena Jankowska; P Lovisetto; Shirley McQuaid; Joanna Pawlowska; Yusaku Tazawa; E Villa; Niels Tygstrup; Ruud Berger; Alex S Knisely; Nelson B Freimer
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
Human genetics 1999;104(3):241-8.
1998: Sandra S Strautnieks; Laura N Bull; Alex S Knisely; Samuel A Kocoshis; Niklas Dahl; Henrik Arnell; E Sokal; K Dahan; S Childs; V Ling; M S Tanner; A F Kagalwalla; A Németh; Joanna Pawlowska; A Baker; Giorgina Mieli-Vergani; Nelson B Freimer; R Mark Gardiner; Richard John Thompson
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Nature genetics 1998;20(3):233-8.
1998: Laura N Bull; M J van Eijk; Ludmila Pawlikowska; Joseph DeYoung; Jenneke A Juijn; M Liao; Leo W J Klomp; Noureddine Lomri; Ruud Berger; Bruce F Scharschmidt; Alex S Knisely; Roderick H J Houwen; Nelson B Freimer
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
Nature genetics 1998;18(3):219-24.
1998: Alex S Knisely; Nelson B Freimer
Insight into bile duct differentiation takes (notched) wings.
Hepatology (Baltimore, Md.) 1998;27(1):298-9.
1997: Alex S Knisely; R M Agostini; B J Zitelli; Samuel A Kocoshis; JT Boyle
Byler's syndrome.
Archives of disease in childhood 1997;77(3):276-7.
1997: Sandra S Strautnieks; A F Kagalwalla; M S Tanner; Alex S Knisely; Laura N Bull; Nelson B Freimer; Samuel A Kocoshis; R Mark Gardiner; Richard John Thompson
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
American journal of human genetics 1997;61(3):630-3.
1997: Laura N Bull; Victoria E H Carlton; N L Stricker; S Baharloo; Joseph DeYoung; Nelson B Freimer; Margret S Magid; E Kahn; James Markowitz; F J DiCarlo; L McLoughlin; JT Boyle; B B Dahms; Philip R Faught; J F Fitzgerald; David A Piccoli; C L Witzleben; N C O'Connell; K D Setchell; R M Agostini; Samuel A Kocoshis; J Reyes; Alex S Knisely
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
Hepatology (Baltimore, Md.) 1997;26(1):155-64.
1995: Victoria E H Carlton; Alex S Knisely; Nelson B Freimer
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
Human molecular genetics 1995;4(6):1049-53.