J
Jens Koenig
Researcher at Boston Children's Hospital
Publications - 5
Citations - 621
Jens Koenig is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Genotype & Microcoria. The author has an hindex of 5, co-authored 5 publications receiving 553 citations.
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Journal ArticleDOI
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
Hélène Louis-Dit-Picard,Hélène Louis-Dit-Picard,Julien Barc,Julien Barc,Daniel Trujillano,Stéphanie Miserey-Lenkei,Nabila Bouatia-Naji,Nabila Bouatia-Naji,Olena Pylypenko,Geneviève Beaurain,Geneviève Beaurain,Amélie Bonnefond,Amélie Bonnefond,Olivier Sand,Olivier Sand,Christophe Simian,Emmanuelle Vidal-Petiot,Emmanuelle Vidal-Petiot,Christelle Soukaseum,Christelle Soukaseum,Chantal Mandet,Chantal Mandet,Françoise Broux,Olivier Chabre,Michel Delahousse,Vincent L.M. Esnault,Béatrice Fiquet,Pascal Houillier,Pascal Houillier,Corinne Isnard Bagnis,Jens Koenig,Martin Konrad,Paul Landais,Paul Landais,Chebel Mourani,Patrick Niaudet,Patrick Niaudet,Vincent Probst,Christel Thauvin,Robert J. Unwin,Steven D. Soroka,Georg Ehret,Georg Ehret,Stephan Ossowski,Mark J. Caulfield,Patrick Bruneval,Patrick Bruneval,Xavier Estivill,Philippe Froguel,Philippe Froguel,Philippe Froguel,Juliette Hadchouel,Juliette Hadchouel,Jean-Jacques Schott,Xavier Jeunemaitre,Xavier Jeunemaitre +55 more
TL;DR: A role is established for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.
Journal ArticleDOI
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum
Verena Matejas,Bernward B. Hinkes,Bernward B. Hinkes,Faisal F. Alkandari,Lihadh Al-Gazali,Ellen E. Annexstad,Mehmet Baha Aytac,Margaret Barrow,Květa Bláhová,Detlef Bockenhauer,Hae Il H.I. Cheong,Iwona Maruniak-Chudek,Pierre Cochat,Jörg Dötsch,Priya Gajjar,Raoul C.M. Hennekam,Françoise Janssen,Mikhail Kagan,Ariana Kariminejad,Markus J. Kemper,Jens Koenig,Jillene J. Kogan,Hester Y. Kroes,Eberhard Kuwertz-Bröking,Amy Feldman Lewanda,Ana Medeira,Jutta Muscheites,Patrick Niaudet,Michel M. Pierson,Anand A. Saggar,Laurie L. Seaver,Mohnish Suri,Alexey A. Tsygin,Elke Wühl,Aleksandra Zurowska,Steffen Uebe,Friedhelm Hildebrandt,Corinne Antignac,Martin Zenker,Martin Zenker +39 more
TL;DR: The majority of disease‐causing LAMB2 mutations are truncating, consistent with the hypothesis that loss of laminin β2 function is the molecular basis of Pierson syndrome.
Journal ArticleDOI
Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (Nature Genetics (2012) 44 (458-462))
Hélène Louis-Dit-Picard,Julien Barc,Daniel Trujillano,Stéphanie Miserey-Lenkei,Nabila Bouatia-Naji,Olena Pylypenko,Geneviève Beaurain,Amélie Bonnefond,Olivier Sand,Christophe Simian,Emmanuelle Vidal-Petiot,Christelle Soukaseum,Chantal Mandet,Françoise Broux,Olivier Chabre,Michel Delahousse,Vincent L.M. Esnault,Béatrice Fiquet,Pascal Houillier,Corinne Isnard Bagnis,Jens Koenig,Martin Konrad,Paul Landais,Chebel Mourani,Patrick Niaudet,Vincent Probst,Christel Thauvin,Robert J. Unwin,Steven D. Soroka,Georg Ehret,Stephan Ossowski,Mark J. Caulfield,Patrick Bruneval,Xavier Estivill,Philippe Froguel,Juliette Hadchouel,Jean-Jacques Schott,Xavier Jeunemaitre +37 more
TL;DR: Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey-Lenkei, Nabila Bouatia-Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian, Emmanuelle Vidal-Petiot, Christelle Soukaseum, Chantal Mandet and others.
Journal ArticleDOI
Ophthalmological aspects of Pierson syndrome.
Cecilie Bredrup,Cecilie Bredrup,Cecilie Bredrup,Verena Matejas,Margaret Barrow,Květa Bláhová,Detlef Bockenhauer,Darren J. Fowler,Richard M. Gregson,Iwona Maruniak-Chudek,Ana Medeira,Erica Laima Mendonça,Mikhail Kagan,Jens Koenig,Hermann Krastel,Hester Y. Kroes,Anand Saggar,Taylor Sawyer,Michael Schittkowski,Janusz Świetliński,Dorothy A. Thompson,Rene G. VanDeVoorde,D. Wittebol-Post,Geoffrey Woodruff,Aleksandra Zurowska,Raoul C.M. Hennekam,Martin Zenker,Isabelle Russell-Eggitt +27 more
TL;DR: In this paper, a multicenter study of 17 patients with molecularly confirmed Pierson syndrome was conducted, where the most characteristic ocular anomaly was microcoria and a wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma.
Journal ArticleDOI
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency
Jens Koenig,Frank Rutsch,Clemens L. Bockmeyer,Matthias R. Baumgartner,Bodo B. Beck,Brigitta Kranz,Martin Konrad +6 more
TL;DR: Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomersulosclerosis.