Publications:

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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.

Frontiers In Endocrinology

Uglebjerg, Nicoline N; Ahmadizar, Fariba F; Aly, Dina M DM; Cañadas-Garre, Marisa M; Hill, Claire C; Naber, Annemieke A; Oddsson, Asmundur A; Singh, Sunny S SS; Smyth, Laura L; Trégouët, David-Alexandre DA; Chaker, Layal L; Ghanbari, Mohsen M; Steinthorsdottir, Valgerdur V; Ahlqvist, Emma E; Hadjadj, Samy S; Van Hoek, Mandy M; Kavousi, Maryam M; McKnight, Amy Jayne AJ; Sijbrands, Eric J EJ; Stefansson, Kari K; Simons, Matias M; Rossing, Peter P; Ahluwalia, Tarunveer S TS

Publication Date: 2023

Variant appearance in text: CUBN: 6469A>G; Asn2157Asp; rs144360241

PubMed Link: 36926036

Variant Present in the following documents:

• Main text
• fendo-14-1081741.pdf

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Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.

Nature Communications

Wuttke, Matthias M; König, Eva E; Katsara, Maria-Alexandra MA; Kirsten, Holger H; Farahani, Saeed Khomeijani SK; Teumer, Alexander A; Li, Yong Y; Lang, Martin M; Göcmen, Burulca B; Pattaro, Cristian C; Günzel, Dorothee D; Köttgen, Anna A; Fuchsberger, Christian C

Publication Date: 2023-03-09

Variant appearance in text: CUBN: Asn2157Asp; rs144360241

PubMed Link: 36890159

Variant Present in the following documents:

• 41467_2023_36864_MOESM1_ESM.pdf

View BVdb publication page

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Genome-Wide Association of Kidney Traits in Hispanics/Latinos Using Dense Imputed Whole-Genome Sequencing Data: The Hispanic Community Health Study/Study of Latinos.

Circulation. Genomic And Precision Medicine

Qian, Huijun H; Kowalski, Madeline H MH; Kramer, Holly J HJ; Tao, Ran R; Lash, James P JP; Stilp, Adrienne M AM; Cai, Jianwen J; Li, Yun Y; Franceschini, Nora N

Publication Date: 2020-08

Variant appearance in text: rs144360241

PubMed Link: 32600054

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: CUBN: N2157D; rs144360241

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

The Journal Of Clinical Investigation

Bedin, Mathilda M; Boyer, Olivia O; Servais, Aude A; Li, Yong Y; Villoing-Gaudé, Laure L; Tête, Marie-Josephe MJ; Cambier, Alexandra A; Hogan, Julien J; Baudouin, Veronique V; Krid, Saoussen S; Bensman, Albert A; Lammens, Florie F; Louillet, Ferielle F; Ranchin, Bruno B; Vigneau, Cecile C; Bouteau, Iseline I; Isnard-Bagnis, Corinne C; Mache, Christoph J CJ; Schäfer, Tobias T; Pape, Lars L; Gödel, Markus M; Huber, Tobias B TB; Benz, Marcus M; Klaus, Günter G; Hansen, Matthias M; Latta, Kay K; Gribouval, Olivier O; Morinière, Vincent V; Tournant, Carole C; Grohmann, Maik M; Kuhn, Elisa E; Wagner, Timo T; Bole-Feysot, Christine C; Jabot-Hanin, Fabienne F; Nitschké, Patrick P; Ahluwalia, Tarunveer S TS; Köttgen, Anna A; Andersen, Christian Brix Folsted CBF; Bergmann, Carsten C; Antignac, Corinne C; Simons, Matias M

Publication Date: 2020-01-02

Variant appearance in text: CUBN: N2157D; rs144360241

PubMed Link: 31613795

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

American Journal Of Human Genetics

Haas, Mary E ME; Aragam, Krishna G KG; Emdin, Connor A CA; Bick, Alexander G AG; , ; Hemani, Gibran G; Davey Smith, George G; Kathiresan, Sekar S

Publication Date: 2018-10-04

Variant appearance in text: rs144360241

PubMed Link: 30220432

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Ma, Jun J; Guan, Meijian M; Bowden, Donald W DW; Ng, Maggie C Y MC; Hicks, Pamela J PJ; Lea, Janice P JP; Ma, Lijun L; Gao, Chuan C; Palmer, Nicholette D ND; Freedman, Barry I BI

Publication Date: 2016-06-06

Variant appearance in text: rs144360241

PubMed Link: 27197912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CUBN: N2157D; rs144360241

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 4

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: CUBN: 6469A>G; N2157D; rs144360241

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One

Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K

Publication Date: 2013

Variant appearance in text: CUBN: N2157D

PubMed Link: 24205039

Variant Present in the following documents:

• pone.0077945.s001.xls, sheet 5

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