K
Karin Dahan
Researcher at Cliniques Universitaires Saint-Luc
Publications - 105
Citations - 6357
Karin Dahan is an academic researcher from Cliniques Universitaires Saint-Luc. The author has contributed to research in topics: Kidney disease & Medicine. The author has an hindex of 30, co-authored 92 publications receiving 5521 citations. Previous affiliations of Karin Dahan include Necker-Enfants Malades Hospital & Université catholique de Louvain.
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Journal ArticleDOI
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Nicolas Boute,Olivier Gribouval,Séverine Roselli,Hyunjoo Jean Lee,Arno Fuchshuber,Karin Dahan,Marie-Claire Gubler,Patrick Niaudet,Corinne Antignac +8 more
TL;DR: It is found that ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
Journal ArticleDOI
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
S S Strautnieks,Laura N. Bull,A.S. Knisely,S A Kocoshis,Niklas Dahl,H Arnell,Etienne Sokal,Karin Dahan,Sarah J. Childs,Ling,M. S. Tanner,Amir F. Kagalwalla,Antal Nemeth,Joanna Pawłowska,Amie Baker,Giorgina Mieli-Vergani,Nelson B. Freimer,R M Gardiner,Richard J. Thompson +18 more
TL;DR: Data provide evidence that SPGP is the human bile salt export pump (BSEP), and the product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro.
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X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study
Jean-Philippe Jais,Bertrand Knebelmann,Iannis Giatras,Mario De Marchi,Gianfranco Rizzoni,Alessandra Renieri,Manfred Weber,Oliver Gross,Kai-Olaf Netzer,Frances Flinter,Yves Pirson,Karin Dahan,Jörgen Wieslander,Ulf Persson,Karl Tryggvason,Paula Martin,Jens Michael Hertz,Cornelis H. Schröder,Marek Sanak,Maria Fernanda Carvalho,Juan Saus,Corinne Antignac,Hubert J.M. Smeets,Marie Claire Gubler +23 more
TL;DR: Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot.
Journal ArticleDOI
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor,Jenny C. Taylor,Hilary C. Martin,Stefano Lise,John Broxholme,Jean-Baptiste Cazier,Andrew J. Rimmer,Alexander Kanapin,Gerton Lunter,Simon Fiddy,Chris Allan,A. Radu Aricescu,Moustafa Attar,Christian Babbs,Jennifer Becq,David Beeson,Celeste Bento,P Bignell,Edward Blair,Veronica J. Buckle,Katherine R. Bull,Katherine R. Bull,Ondrej Cais,Holger Cario,Helen Chapel,Richard R. Copley,Richard R. Copley,Richard J. Cornall,Jude Craft,Jude Craft,Karin Dahan,Emma E. Davenport,Calliope A. Dendrou,Olivier Devuyst,Aimee L. Fenwick,Jonathan Flint,Lars Fugger,Rodney D. Gilbert,Anne Goriely,Angie Green,Ingo H. Greger,Russell J. Grocock,Anja V. Gruszczyk,Robert W. Hastings,Edouard Hatton,Doug Higgs,Adrian V. S. Hill,Adrian V. S. Hill,Christopher Holmes,Christopher Holmes,Malcolm F. Howard,Malcolm F. Howard,Linda Hughes,Peter Humburg,David W. Johnson,Fredrik Karpe,Zoya Kingsbury,Usha Kini,Julian C. Knight,Jon P. Krohn,Sarah Lamble,Craig B. Langman,Lorne Lonie,Joshua Luck,Davis J. McCarthy,Simon J. McGowan,Mary Frances McMullin,Kerry A. Miller,Lisa Murray,Andrea H. Németh,M. Andrew Nesbit,David J. Nutt,Elizabeth Ormondroyd,Annette Bang Oturai,Alistair T. Pagnamenta,Alistair T. Pagnamenta,Smita Y. Patel,Melanie J. Percy,Nayia Petousi,Paolo Piazza,Sian E. Piret,Guadalupe Polanco-Echeverry,Niko Popitsch,Niko Popitsch,Fiona Powrie,Christopher W. Pugh,Lynn Quek,Peter A. Robbins,Kathryn J. H. Robson,Alexandra Russo,Natasha Sahgal,Pauline A. van Schouwenburg,Anna Schuh,Anna Schuh,Earl D. Silverman,Alison Simmons,Per Soelberg Sørensen,Elizabeth Sweeney,John Taylor,John Taylor,Rajesh V. Thakker,Ian Tomlinson,Ian Tomlinson,Amy Trebes,Stephen R.F. Twigg,Holm H. Uhlig,Paresh Vyas,Timothy J. Vyse,Steven A. Wall,Hugh Watkins,Michael P. Whyte,Lorna Witty,Ben Wright,Christopher Yau,David Buck,Sean Humphray,Peter J. Ratcliffe,John I. Bell,Andrew O.M. Wilkie,David Bentley,Peter Donnelly,Peter Donnelly,Gilean McVean +122 more
TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.
Journal ArticleDOI
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Kai-Uwe Eckardt,Seth L. Alper,Corinne Antignac,Corinne Antignac,Anthony J. Bleyer,Dominique Chauveau,Karin Dahan,Constantinos Deltas,Andrew Hosking,Stanislav Kmoch,Luca Rampoldi,Michael Wiesener,Matthias T.F. Wolf,Olivier Devuyst +13 more
TL;DR: Adopting a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria is anticipated to facilitate recognition and characterization of these monogenic diseases.