Edgar A. Otto performs multidisciplinary study in Gene and Transcription factor in his work. Edgar A. Otto incorporates Genetics and Anatomy in his research. In his works, he undertakes multidisciplinary study on Anatomy and Genetics. His Phenotype study frequently links to adjacent areas such as Ciliopathies. He connects Cilium with Joubert syndrome in his study. His work blends Joubert syndrome and Ciliogenesis studies together. While working on this project, he studies both Ciliogenesis and Ciliopathy. In his papers, he integrates diverse fields, such as Ciliopathy and Cilium. His multidisciplinary approach integrates Nephronophthisis and Polycystic kidney disease in his work.
Edgar A. Otto is exploring Mutation as part of his Exome sequencing and Compound heterozygosity and Mutation studies. In his works, Edgar A. Otto undertakes multidisciplinary study on Exome sequencing and Mutation. His Genetics study typically links adjacent topics like Ciliogenesis. Gene and Zebrafish are two areas of study in which Edgar A. Otto engages in interdisciplinary research. Phenotype is frequently linked to Compound heterozygosity in his study. He applies his multidisciplinary studies on Nephronophthisis and Joubert syndrome in his research. While working on this project, Edgar A. Otto studies both Joubert syndrome and Ciliopathy. His multidisciplinary approach integrates Ciliopathy and Nephronophthisis in his work. His Cell biology research extends to the thematically linked field of Cilium.
His Internal medicine study frequently involves adjacent topics like Acute tubular necrosis. Edgar A. Otto regularly links together related areas like Endocrinology in his Acute tubular necrosis studies. His Endocrinology study typically links adjacent topics like Fanconi syndrome. His work on Internal medicine expands to the thematically related Fanconi syndrome. While working on this project, Edgar A. Otto studies both Kidney and Albuminuria. Edgar A. Otto incorporates Albuminuria and Kidney in his research. He undertakes multidisciplinary studies into Genetics and Cancer research in his work. His work often combines Cancer research and Genetics studies. Lineage (genetic) covers Edgar A. Otto research in Gene.
His research ties Lineage (genetic) and Gene together. He applies his multidisciplinary studies on Genetics and Cancer research in his research. He combines Cancer research and Genetics in his research. In his works, Edgar A. Otto conducts interdisciplinary research on Embryonic stem cell and Progenitor cell. Many of his studies on Progenitor cell apply to Progenitor as well. His Cell biology research extends to Progenitor, which is thematically connected. His Organoid research extends to Cell biology, which is thematically connected. Borrowing concepts from Stem cell, Edgar A. Otto weaves in ideas under Organoid. He integrates Stem cell with Induced pluripotent stem cell in his research.
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg.
Nature Genetics (2006)
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Edgar A. Otto;Bernhard Schermer;Tomoko Obara;John F. O'Toole.
Nature Genetics (2003)
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Bernward Hinkes;Roger C. Wiggins;Rasheed Gbadegesin;Christopher N. Vlangos.
Nature Genetics (2006)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R Garcia-Gonzalo;Kevin C Corbit;María Salomé Sirerol-Piquer;Gokul Ramaswami.
Nature Genetics (2011)
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Raúl Estévez;Thomas Boettger;Valentin Stein;Ralf Birkenhäger.
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang;Julie J. Miller;Kevin C. Corbit;Rachel H. Giles.
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Ralf Birkenhäger;Edgar Otto;Maria J. Schürmann;Martin Vollmer.
Nature Genetics (2001)
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Rainer G. Ruf;Pin-Xian Xu;Derek Silvius;Edgar A. Otto.
Proceedings of the National Academy of Sciences of the United States of America (2004)
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;Jan Hellemans.
Nature Genetics (2005)
Nephronophthisis: Disease Mechanisms of a Ciliopathy
Friedhelm Hildebrandt;Massimo Attanasio;Edgar Otto.
Journal of The American Society of Nephrology (2009)
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