Concepedia
Statistics
Publications
9
Citations
1.7K
H-Index
Active since
2005
Affiliations
University of Michigan(Current)
Simon Fraser University
University of California San Diego
University College London
University of Cologne
Juliana Helou is an author at University of Michigan specializing in hereditary renal diseases, genetics, and medical genetics.
Publications per year
2005–2021
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations
Life Sciences, Genetics, Molecular Biology +6
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Edgar A. Otto, Bart Loeys, Hemant Khanna et al. · Nature Genetics · 2005 · 404 citations
Life Sciences, Genetics, Molecular Genetics +6
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
Massimo Attanasio, N. Henriette Uhlenhaut, Vitor H. Sousa et al. · Nature Genetics · 2007 · 239 citations
Life Sciences, Nephrology, Pathology +11
NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis
Edgar A. Otto, Melissa L. Trapp, Ulla T. Schultheiß et al. · Journal of the American Society of Nephrology · 2008 · 217 citations
Medicine, Genetics, Molecular Genetics +14
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text
Medicine, Genetics, Molecular Genetics +16
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