Emmanuel Jacquemin
University of Paris-Sud
164 Papers
668 Citations
Emmanuel Jacquemin is an academic researcher from University of Paris-Sud. The author has contributed to research in topics: Medicine & Progressive familial intrahepatic cholestasis. The author has an hindex of 48, co-authored 145 publications. Previous affiliations of Emmanuel Jacquemin include Paris Descartes University & French Institute of Health and Medical Research.
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Papers
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
J. M. L. De Vree,Emmanuel Jacquemin,Ekkehard Sturm,Danièle Cresteil,Piter J. Bosma,Jan Aten,Jean-François Deleuze,M. Desrochers,Martin Burdelski,Olivier Bernard,R. P. J. Oude Elferink,Michelle Hadchouel +11 more
TL;DR: The results demonstrate that mutations in the human MDR3 gene lead to progressive familial intrahepatic cholestasis with high serum gamma-GT.
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Progressive familial intrahepatic cholestasis
TL;DR: Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis, and most PFIC patients are ultimately candidates for liver transplantation.
The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood☆☆☆
Emmanuel Jacquemin,Olivier Bernard,Michelle Hadchouel,Danièle Cresteil,J.Marleen L. De Vree,Marianne Paul,Ronald P.J. Oude Elferink,Piter J. Bosma,Etienne Sokal,Ekkehard Sturm,Martin Burdelski,M. Dumont,George L. Scheffer +12 more
TL;DR: At least one third of the patients with a progressive familial intrahepatic cholestasis type 3 phenotype have a proven defect of the multidrug resistance 3 gene (MDR3), which should also be considered in adult liver diseases.
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Impact of Age at Kasai Operation on Its Results in Late Childhood and Adolescence: A Rational Basis for Biliary Atresia Screening
Marie-Odile Serinet,Barbara E. Wildhaber,Pierre Broué,Alain Lachaux,Jacques Sarles,Emmanuel Jacquemin,Frédéric Gauthier,Christophe Chardot +7 more
TL;DR: Findings indicate a rational basis for biliary atresia screening to reduce the need for liver transplantations in infancy and childhood and suggest increased age at surgery had a progressive and sustained deleterious effect on the results of the Kasai operation until adolescence.
440
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
Smail Hadj-Rabia,Lekbir Baala,Pierre Vabres,D. Hamel-Teillac,Emmanuel Jacquemin,Monique Fabre,Stanislas Lyonnet,Yves de Prost,Arnold Munnich,Michelle Hadchouel,Asma Smahi +10 more
TL;DR: Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells, and ZO-2-associated hypercholanemia emphasizes the role played by TJ components in hereditary cholestasis.
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