Juliana Helou
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Mitochondrial Function and Pathology, Hemoglobinopathies and Related Disorders, Metabolism and Genetic Disorders
Most-Cited Works
- → The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4(2006)572 cited
- → Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin(2005)404 cited
- → Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis(2007)237 cited
- → NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis(2008)217 cited
- → Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy(2010)118 cited
- → Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing(2007)80 cited
- → Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype(2017)19 cited
- → Mutational analysis in 119 families with nephronophthisis(2006)11 cited
- → Confidence of UK Ophthalmology Registrars in Managing Posterior Capsular Rupture: Results from a National Trainee Survey(2021)9 cited