D
Detlef Bockenhauer
Researcher at University College London
Publications - 248
Citations - 11397
Detlef Bockenhauer is an academic researcher from University College London. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 47, co-authored 214 publications receiving 8770 citations. Previous affiliations of Detlef Bockenhauer include Great Ormond Street Hospital for Children NHS Foundation Trust & Yale University.
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Journal ArticleDOI
Potassium leak channels and the KCNK family of two-p-domain subunits
TL;DR: The discovery of KCNK channels is reviewed, what has been learned about them and what lies ahead: highly regulated, potassium-selective leak channels that function in a most remarkable fashion.
Journal ArticleDOI
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
Lynn M. Boyden,Murim Choi,Keith A. Choate,Carol Nelson-Williams,Anita Farhi,Hakan R. Toka,Irina Tikhonova,Robert D. Bjornson,Shrikant Mane,Giacomo Colussi,Marcel Lebel,Richard D. Gordon,Ben A. Semmekrot,Alain Poujol,Matti Välimäki,Maria Elisabetta De Ferrari,Sami A. Sanjad,Michael Gutkin,Fiona E. Karet,Joseph R. Tucci,Jim R. Stockigt,Kim M. Keppler-Noreuil,Craig C. Porter,Sudhir K. Anand,Margo Whiteford,Ira Davis,Stephanie Dewar,Alberto Bettinelli,Jeffrey J. Fadrowski,Craig W. Belsha,Tracy E. Hunley,Raoul D. Nelson,Howard Trachtman,Trevor Cole,Maury Pinsk,Detlef Bockenhauer,Mohan Shenoy,Priya Vaidyanathan,John W. Foreman,Majid Rasoulpour,Farook Thameem,Hania Z. Al-Shahrouri,Jai Radhakrishnan,Ali G. Gharavi,Beatrice Goilav,Richard P. Lifton +45 more
TL;DR: The utility of exome sequencing in disease gene identification despite the combined complexities of locus heterogeneity, mixed models of transmission and frequent de novo mutation is demonstrated, and a fundamental role for KLHL3 and CUL3 in blood pressure, K+ and pH homeostasis is established.
Journal ArticleDOI
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Detlef Bockenhauer,Sally Feather,Horia Stanescu,Sascha Bandulik,Anselm A. Zdebik,Markus Reichold,Jonathan Tobin,E Lieberer,Christina Sterner,Guida Landouré,Ruchi Arora,Tony Sirimanna,Dorothy A. Thompson,J. Helen Cross,William van’t Hoff,Omar Al Masri,Kjell Tullus,Stella Yeung,Yair Anikster,Enriko Klootwijk,Mike Hubank,Michael J. Dillon,Dirk Heitzmann,Mauricio Arcos-Burgos,Mark A Knepper,Angus Dobbie,William A. Gahl,Richard Warth,Eamonn Sheridan,Robert Kleta +29 more
TL;DR: In this paper, the authors investigated the genetic basis of this autosomal recessive disease, which they call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy).
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A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski,Svjetlana Lovric,Shazia Ashraf,Werner L. Pabst,Heon Yung Gee,Stefan Kohl,Susanne Engelmann,Virginia Vega-Warner,Humphrey Fang,Jan Halbritter,Michael J. Somers,Weizhen Tan,Shirlee Shril,Inés Fessi,Richard P. Lifton,Detlef Bockenhauer,Sherif M. El-Desoky,Jameela A. Kari,Martin Zenker,Markus J. Kemper,Dominik N Mueller,Hanan M. Fathy,Neveen A. Soliman,Friedhelm Hildebrandt,Friedhelm Hildebrandt +24 more
TL;DR: The study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available.
Journal ArticleDOI
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy
Horia Stanescu,Mauricio Arcos-Burgos,Alan Medlar,Detlef Bockenhauer,Anna Köttgen,L. Dragomirescu,C. Voinescu,N. Patel,K. Pearce,Mike Hubank,H.A.F. Stephens,V. Laundy,Sandosh Padmanabhan,A. Zawadzka,Julia M. Hofstra,Marieke J H Coenen,M. den Heijer,Lambertus A. Kiemeney,D. Bacq-Daian,Bénédicte Stengel,S. H. Powis,Paul Brenchley,J. Feehally,Andrew J. Rees,Hanna Debiec,Jack F.M. Wetzels,Pierre Ronco,Peter W. Mathieson,Robert Kleta +28 more
TL;DR: An HLA-DQA1 allele on chromosome 6p21 is most closely associated with idiopathic membranous nephropathy in persons of white ancestry and may facilitate an autoimmune response against targets such as variants of PLA2R1.