Associated Papers
Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome.
Shi X et al.
Human Genomics, 2025
Familial Hyperkalemic Hypertension.
Cornelius RJ et al.
Comprehensive Physiology, 2024
Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.
Sharma P et al.
Cell Communication and Signaling : Ccs, 2023
The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Hureaux M et al.
Kidney International Reports, 2021
34622103 (PubMed )
Supplement: mmc1.pdf
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Nakashima M et al.
Journal of Human Genetics, 2020
Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.
Ostrosky-Frid M et al.
American Journal of Hypertension, 2020
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.
Shao L et al.
Febs Open Bio, 2018
Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.
Ferdaus MZ et al.
Jci Insight, 2017
Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene.
Araki Y et al.
Biology Open, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
Glover M et al.
Clinical Science (london, England : 1979), 2014
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