Associated Papers
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.
Uglebjerg N et al.
Frontiers in Endocrinology, 2023
CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.
Yang J et al.
Bmc Nephrology, 2022
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies.
Gianesello L et al.
International Journal of Molecular Sciences, 2020
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M et al.
The Journal of Clinical Investigation, 2020
Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.
Jayasinghe K et al.
Bmc Nephrology, 2019
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients.
Albert C et al.
Nephron, 2019
Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53.
Duffy DL et al.
Bmc Nephrology, 2016
Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.
Ma J et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2016
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.
Preeprem T et al.
Biodata Mining, 2013
Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.
Tzur S et al.
Bmc Nephrology, 2012
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.
Reznichenko A et al.
Plos One, 2012
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
Ovunc B et al.
Journal of the American Society of Nephrology : Jasn, 2011
CUBN is a gene locus for albuminuria.
Böger CA et al.
Journal of the American Society of Nephrology : Jasn, 2011
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M et al.
Nature Genetics, 1999