Works matching DE "CUBILIN"

Results: 23

Degenerative Liver Disease in Young Beagles with Hereditary Cobalamin Malabsorption Because of a Mutation in the Cubilin Gene.

Published in:

Journal of Veterinary Internal Medicine, 2014, v. 28, n. 2, p. 666, doi. 10.1111/jvim.12295

By:

Kook, P.H.;
Drögemüller, M.;
Leeb, T.;
Howard, J.;
Ruetten, M.

Publication type:

Article

GENETICS.

Published in:: Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_3, p. iii42, doi. 10.1093/ndt/gfu128
Publication type:: Article

From bowel to kidneys: the role of cubilin in physiology and disease.

Published in:

Nephrology Dialysis Transplantation, 2013, v. 28, n. 2, p. 274, doi. 10.1093/ndt/gfs565

By:

Christensen, Erik I.;
Nielsen, Rikke;
Birn, Henrik

Publication type:

Article

Cubilin is expressed in rat and human glomerular podocytes.

Published in:

Nephrology Dialysis Transplantation, 2012, v. 27, n. 8, p. 3156, doi. 10.1093/ndt/gfr794

By:

Prabakaran, Thaneas;
Christensen, Erik Ilsø;
Nielsen, Rikke;
Verroust, Pierre J.

Publication type:

Article

Cubilin expression is monoallelic and epigenetically augmented via PPARs.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-405

By:

Aseem, Obaidullah;
Barth, Jeremy L.;
Klatt, Sandra C.;
Smith, Brian T.;
Argraves, W. Scott

Publication type:

Article

A systematic search strategy identifies cubilin as independent prognostic marker for renal cell carcinoma.

Published in:

2017

By:

Gremel, Gabriela;
Djureinovic, Dijana;
Niinivirta, Marjut;
Laird, Alexander;
Ljungqvist, Oscar;
Johannesson, Henrik;
Bergman, Julia;
Edqvist, Per-Henrik;
Navani, Sanjay;
Khan, Naila;
Patil, Tushar;
Sivertsson, Åsa;
Uhlén, Mathias;
Harrison, David J.;
Ullenhag, Gustav J.;
Stewart, Grant D.;
Pontén, Fredrik

Publication type:

journal article

CUBN and NEBL common variants in the chromosome 10p13 linkage region are associated with multibacillary leprosy in Vietnam.

Published in:

Human Genetics, 2014, v. 133, n. 7, p. 883, doi. 10.1007/s00439-014-1430-8

By:

Grant, Audrey;
Cobat, Aurelie;
Thuc, Nguyen;
Orlova, Marianna;
Huong, Nguyen;
Gaschignard, Jean;
Alter, Andrea;
Ba, Nguyen;
Thai, Vu;
Abel, Laurent;
Alcaïs, Alexandre;
Schurr, Erwin

Publication type:

Article

The association between vitamin B12, albuminuria and reduced kidney function: an observational cohort study.

Published in:

BMC Nephrology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/1471-2369-16-7

By:

McMahon, Gearoid M.;
Shih-Jen Hwang;
Tanner, Rikki M.;
Jacques, Paul F.;
Selhub, Jacob;
Muntner, Paul;
Fox, Caroline S.

Publication type:

Article

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.

Published in:

BMC Nephrology, 2012, v. 13, n. 1, p. 142, doi. 10.1186/1471-2369-13-142

By:

Shay Tzur;
Wasser, Walter G;
Rosset, Saharon;
Skorecki, Karl

Publication type:

Article

Lack of megalin expression in adult human terminal ileum suggests megalin-independent cubilin/amnionless activity during vitamin B<sub>12</sub> absorption.

Published in:

Physiological Reports, 2014, v. 2, n. 7, p. n/a, doi. 10.14814/phy2.12086

By:

Jensen, Louise L.;
Andersen, Rikke K.;
Hager, Henrik;
Madsen, Mette

Publication type:

Article

A frameshift mutation in the cubilin gene ( CUBN) in Beagles with Imerslund- Gräsbeck syndrome (selective cobalamin malabsorption).

Published in:

Animal Genetics, 2014, v. 45, n. 1, p. 148, doi. 10.1111/age.12094

By:

Drögemüller, Michaela;
Jagannathan, Vidhya;
Howard, Judith;
Bruggmann, Rémy;
Drögemüller, Cord;
Ruetten, Maja;
Leeb, Tosso;
Kook, Peter H.

Publication type:

Article

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

Published in:

2016

By:

Teumer, Alexander;
Tin, Adrienne;
Sorice, Rossella;
Gorski, Mathias;
Nan Cher Yeo;
Chu, Audrey Y.;
Man Li;
Yong Li;
Mijatovic, Vladan;
Yi-An Ko;
Taliun, Daniel;
Luciani, Alessandro;
Ming-Huei Chen;
Qiong Yang;
Foster, Meredith C.;
Olden, Matthias;
Hiraki, Linda T.;
Tayo, Bamidele O.;
Fuchsberger, Christian;
Dieffenbach, Aida Karina

Publication type:

journal article

Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 3, doi. 10.1186/1471-2350-14-111

By:

Storm, Tina;
Zeitz, Christina;
Cases, Olivier;
Amsellem, Sabine;
Verroust, Pierre J.;
Madsen, Mette;
Benoist, Jean-François;
Passemard, Sandrine;
Lebon, Sophie;
Jønsson, Iben Møller;
Emma, Francesco;
Koldsø, Heidi;
Hertz, Jens Michael;
Nielsen, Rikke;
Christensen, Erik I.;
Kozyraki, Renata

Publication type:

Article

Expression of cubilin in mouse testes and Leydig cells.

Published in:

Andrologia, 2016, v. 48, n. 3, p. 325, doi. 10.1111/and.12450

By:

Oh, Y. S.;
Seo, J. T.;
Ahn, H. S.;
Gye, M. C.

Publication type:

Article

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.

Published in:

BMC Veterinary Research, 2018, v. 14, n. 1, p. N.PAG, doi. 10.1186/s12917-018-1752-1

By:

Fyfe, John C.;
Hemker, Shelby L.;
Frampton, Alycia;
Raj, Karthik;
Nagy, Peter L.;
Gibbon, Kristi J.;
Giger, Urs

Publication type:

Article

Roles of CUB and LDL receptor class A domain repeats of a transmembrane serine protease matriptase in its zymogen activation.

Published in:

Journal of Biochemistry, 2013, v. 153, n. 1, p. 51, doi. 10.1093/jb/mvs118

By:

Inouye, Kuniyo;
Tomoishi, Marie;
Yasumoto, Makoto;
Miyake, Yuka;
Kojima, Kenji;
Tsuzuki, Satoshi;
Fushiki, Tohru

Publication type:

Article

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 527, doi. 10.3390/ijms20030527

By:

Pacitto, Alessandra;
Prontera, Paolo;
Stangoni, Gabriela;
Stefanelli, Maurizio;
Ceppi, Stefania;
Cerri, Carla;
Gurdo, Grazia;
Mencarelli, Annalisa;
Esposito, Susanna

Publication type:

Article

The Endocytic Receptor Megalin and its Associated Proteins in Proximal Tubule Epithelial Cells.

Published in:

Membranes, 2014, v. 4, n. 3, p. 333, doi. 10.3390/membranes4030333

By:

Shankhajit De;
Shoji Kuwahara;
Akihiko Saito

Publication type:

Article

In this Issue.

Published in:: Kidney International, 2012, v. 82, n. 1, p. 1, doi. 10.1038/ki.2012.214
Publication type:: Article

Acute endotoxemia in mice induces downregulation of megalin and cubilin in the kidney.

Published in:

Kidney International, 2012, v. 82, n. 1, p. 53, doi. 10.1038/ki.2012.62

By:

Schreiber, Andrea;
Theilig, Franziska;
Schweda, Frank;
Höcherl, Klaus

Publication type:

Article

A Frameshift Mutation in the Cubilin Gene (<i>CUBN</i>) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption).

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061144

By:

Owczarek-Lipska, Marta;
Jagannathan, Vidhya;
Drögemüller, Cord;
Lutz, Sabina;
Glanemann, Barbara;
Leeb, Tosso;
Kook, Peter H.

Publication type:

Article

CUBN as a Novel Locus for End-Stage Renal Disease: Insights from Renal Transplantation.

Published in:

PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036512

By:

Reznichenko, Anna;
Snieder, Harold;
Born, Jacob van den;
Borst, Martin H. de;
Damman, Jeffrey;
Dijk, Marcory C. R. F. van;
Goor, Harry van;
Hepkema, Bouke G.;
Hillebrands, Jan-Luuk;
Leuvenink, Henri G. D.;
Niesing, Jan;
Bakker, Stephan J. L.;
Seelen, Marc;
Navis, Gerjan

Publication type:

Article

Making a Dent in Dent Disease.

Published in:: Function, 2020, v. 1, n. 2, p. 1, doi. 10.1093/function/zqaa017
Publication type:: Article