Associated Papers
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants.
Shi V et al.
Clinical Case Reports, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
36890159 (PubMed )
Supplement: 41467_2023_36864_MOESM1_ESM.pdf
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
Vitamin D pathway gene variation rs3740165 is associated with serological uric acid levels in healthy Chinese women.
Gu J et al.
Frontiers in Endocrinology, 2022
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M et al.
The Journal of Clinical Investigation, 2020
A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.
Casanova F et al.
Human Molecular Genetics, 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
30816480 (PubMed )
Supplement: supplement_2.pdf
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-SH
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.
Ahluwalia TS et al.
Diabetologia, 2019
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0
34746741 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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