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, +39

Nature Genetics

Transcription Factor Atf4Transcriptional RegulationDevelopmental BiologyMendelian DisorderJoubert Syndrome +8

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, +30

Nature Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathology +4

Evidence of Oligogenic Inheritance in Nephronophthisis

Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole, +6

Journal of the American Society of Nephrology

Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)

Edgar A. Otto, Kálmán Tory, Massimo Attanasio, +12

Journal of Medical Genetics

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Boris Utsch, John A. Sayer, Massimo Attanasio, +5

Pediatric Nephrology

Developmental BiologyNephronophthisis-associated Joubert SyndromeMendelian DisorderGenetic DisorderGenetics +6

Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Boris Utsch, Arend Bökenkamp, Marcus R. Benz, +17

American Journal of Kidney Diseases

Dent DiseaseOral CavityOral BiologyPathologyDental Disease +3

Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

Lisa Gambhir, Tobias Höller, Martín Müller, +13

The Journal of Urology

Mutational analysis of theNPHP4 gene in 250 patients with nephronophthisis

Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, +9

Human Mutation

Hypercalciuria in patients with CLCN5 mutations

Michael Ludwig, Boris Utsch, Bernd Balluch, +3

Pediatric Nephrology

UrologyMendelian DisorderGenetic DisorderMedicinePathology +2

A Hospital-Based Intermittent Nocturnal Hemodialysis Program for Children and Adolescents

Anne Hoppé, Christina von Puttkamer, Ursula Linke, +14

The Journal of Pediatrics

HemodialysisSleepAdolescent MedicineMedicineKidney Failure +7