| Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.
Anatolou D, Steiropoulos P, Zissimopoulos A, Chadia K, Archontogeorgis K, Kolios G, Manolopoulos VG, Ragia G., Free PMC Article | 06/6/2024 |
| Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria. | Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.
Yang H, He L, Gong H, Wan C, Ding J, Liao P, Wang X., Free PMC Article | 03/19/2024 |
| Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?
Ceol M, Gianesello L, Trimarchi H, Migliorini A, Priante G, Radu CM, Naso E, Angelini A, Calò LA, Anglani F, Del Prete D., Free PMC Article | 12/15/2023 |
| 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. | 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, Ahmadizar F, Aly DM, Cañadas-Garre M, Hill C, Naber A, Oddsson A, Singh SS, Smyth L, Trégouët DA, Chaker L, Ghanbari M, Steinthorsdottir V, Ahlqvist E, Hadjadj S, Van Hoek M, Kavousi M, McKnight AJ, Sijbrands EJ, Stefansson K, Simons M, Rossing P, Ahluwalia TS., Free PMC Article | 03/20/2023 |
| Clinical and genetic characterization of children with cubilin variants. | Clinical and genetic characterization of children with cubilin variants.
Cicek N, Alpay H, Guven S, Alavanda C, Türkkan ÖN, Pul S, Demirci E, Yıldız N, Ata P, Gokce I. | 02/16/2023 |
| Novel pathogenic variants in CUBN uncouple proteinuria from renal function. | Novel pathogenic variants in CUBN uncouple proteinuria from renal function.
Gan C, Zhou X, Chen D, Chi H, Qiu J, You H, Chen Y, Wang M, Yang H, Jiang W, Li Q., Free PMC Article | 10/29/2022 |
| Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. | Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
Domingo-Gallego A, Pybus M, Madariaga L, Piñero-Fernández JA, González-Pastor S, López-González M, Simarro-Rueda E, Quintanilla-Mata ML, Matoses-Ruipérez ML, Ejarque-Vila L, Cornec-Le Gall E, Guirado L, Torra R, Ariceta G, Ars E. | 10/1/2022 |
| CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children. | CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.
Yang J, Xu Y, Deng L, Zhou L, Qiu L, Zhang Y, Zhou J., Free PMC Article | 05/14/2022 |
| Cubilin, the intrinsic factor-vitamin B12 receptor. | Cubilin, the intrinsic factor-vitamin B12 receptor.
Kozyraki R, Verroust P, Cases O. | 04/23/2022 |
| Genetic Variability in the Iron Homeostasis Pathway and Patient Outcomes After Aneurysmal Subarachnoid Hemorrhage. | Genetic Variability in the Iron Homeostasis Pathway and Patient Outcomes After Aneurysmal Subarachnoid Hemorrhage.
Heinsberg LW, Alexander SA, Crago EA, Minster RL, Poloyac SM, Weeks DE, Conley YP., Free PMC Article | 09/25/2021 |
| Tuberculosis risk is associated with genetic polymorphisms in the LRP2, CUBN, and VDR genes. | Tuberculosis risk is associated with genetic polymorphisms in the LRP2, CUBN, and VDR genes.
Kim SS, Lee SI, Jin HS, Park S. | 08/28/2021 |
| Bioinformatics for The Prognostic Value and Function of Cubilin (CUBN) in Colorectal Cancer. | Bioinformatics for The Prognostic Value and Function of Cubilin (CUBN) in Colorectal Cancer.
Wu Y, Xu Y., Free PMC Article | 05/22/2021 |
| A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease. | A study of associations between CUBN, HNF1A, and LIPC gene polymorphisms and coronary artery disease.
Park HS, Kim IJ, Kim EG, Ryu CS, Lee JY, Ko EJ, Park HW, Sung JH, Kim NK., Free PMC Article | 01/9/2021 |
| Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm. | Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.
Jayasinghe K, White SM, Kerr PG, MacGregor D, Stark Z, Wilkins E, Simons C, Mallett A, Quinlan C., Free PMC Article | 11/21/2020 |
| Association between CUBN gene variants, type 2 diabetes and vitamin D concentrations in an elderly Greek population. | Association between CUBN gene variants, type 2 diabetes and vitamin D concentrations in an elderly Greek population.
Tsekmekidou X, Tsetsos F, Koufakis T, Karras SN, Georgitsi M, Papanas N, Papazoglou D, Roumeliotis A, Panagoutsos S, Thodis E, Theodoridis M, Pasadakis P, Maltezos E, Paschou P, Kotsa K. | 08/15/2020 |
| 4 C-terminal CUBN variants are associated with albuminuria and slightly increased GFR in meta-analyses of large population-based cohorts. | Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M., Free PMC Article | 07/25/2020 |
| Our study confirms a probable causal but weak relation between serum 25(OH)D level and mortality. The relation between the polymorphism rs12766939 in the cubulin gene and mortality needs confirmation in more homogenous cohorts. | Polymorphisms in the vitamin D system and mortality - The Tromsø study.
Jorde R, Wilsgaard T, Grimnes G. | 01/18/2020 |
| study highlights that MMP-9 or CUBN-SNPs may exert effects on risk of susceptibility to diabetic nephropathy or end-stage renal disease | 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, Kube J, Albert A, Schanze D, Zenker M, Mertens PR. | 01/4/2020 |
| The current study identifies a rare coding variant in the CUBN locus and other potential genes associated with albuminuria in individuals with and without diabetes. These genes have been implicated in renal and cardiovascular dysfunction. | 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, Schulz CA, Waage J, Skaaby T, Sandholm N, van Zuydam N, Charmet R, Bork-Jensen J, Almgren P, Thuesen BH, Bedin M, Brandslund I, Christensen CK, Linneberg A, Ahlqvist E, Groop PH, Hadjadj S, Tregouet DA, Jørgensen ME, Grarup N, Pedersen O, Simons M, Groop L, Orho-Melander M, McCarthy MI, Melander O, Rossing P, Kilpeläinen TO, Hansen T., Free PMC Article | 06/29/2019 |
| Data indicate the crystal structure of amnionless (AMN) in complex with the amino-terminal region of intrinsic factor-cobalamin receptor (cubilin). | Structural assembly of the megadalton-sized receptor for intestinal vitamin B(12) uptake and kidney protein reabsorption.
Larsen C, Etzerodt A, Madsen M, Skjødt K, Moestrup SK, Andersen CBF., Free PMC Article | 01/5/2019 |
| Study shows that cubilin mutations (novel and some previously reported) and all previously reported amnionless missense mutations resulted in endoplasmic reticulum retention and completely inhibited amnionless-dependent plasma membrane expression of cubilin. | Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.
Udagawa T, Harita Y, Miura K, Mitsui J, Ode KL, Morishita S, Urae S, Kanda S, Kajiho Y, Tsurumi H, Ueda HR, Tsuji S, Saito A, Oka A., Free PMC Article | 12/22/2018 |
| in teens with positive recto-vaginal group B streptococcus colonization, placental mRNA expression of cubilin is lower compared to those who tested negative for this infection | Vitamin D mediates the relationship between placental cathelicidin and group B streptococcus colonization during pregnancy.
Akoh CC, Pressman EK, Whisner CM, Thomas C, Cao C, Kent T, Cooper E, O'Brien KO. | 03/31/2018 |
| Cubilin is involved in 25(OH) vitamin D uptake by adipocytes. | Gene Expression Pattern in Response to Cholecalciferol Supplementation Highlights Cubilin as a Major Protein of 25(OH)D Uptake in Adipocytes and Male Mice White Adipose Tissue.
Bonnet L, Karkeni E, Couturier C, Astier J, Dalifard J, Defoort C, Svilar L, Martin JC, Tourniaire F, Landrier JF. | 02/17/2018 |
| Study identified CUBN as a marker for risk stratification of patients with renal cell carcinoma (RCC). Lack of CUBN expression was significantly associated with early disease progression and poor patient outcome, independent of T-stage, Fuhrman grade and nodal status. Owing to a highly RCC-specific expression profile, CUBN expression also has a potential role in clinical cancer differential diagnostics. | A systematic search strategy identifies cubilin as independent prognostic marker for renal cell carcinoma.
Gremel G, Djureinovic D, Niinivirta M, Laird A, Ljungqvist O, Johannesson H, Bergman J, Edqvist PH, Navani S, Khan N, Patil T, Sivertsson Å, Uhlén M, Harrison DJ, Ullenhag GJ, Stewart GD, Pontén F., Free PMC Article | 01/20/2018 |
| CUBN SNP rs1801239 (I2984V), previously associated with albuminuria, was significantly associated with T2D-ESRD in blacks. | Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.
Ma J, Guan M, Bowden DW, Ng MCY, Hicks PJ, Lea JP, Ma L, Gao C, Palmer ND, Freedman BI., Free PMC Article | 12/16/2017 |