scholarly journals Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Gräsbeck Syndrome) in Juvenile Beagles

2014 ◽  
Vol 28 (2) ◽  
pp. 356-362 ◽  
Author(s):  
J.C. Fyfe ◽  
S.L. Hemker ◽  
P.J. Venta ◽  
B. Stebbing ◽  
U. Giger
Keyword(s):  
Cobalamin Malabsorption

scholarly journals Defective brush-border expression of intrinsic factor-cobalamin receptor in canine inherited intestinal cobalamin malabsorption

1991 ◽  
Vol 266 (7) ◽  
pp. 4489-4494
Author(s):  
J C Fyfe ◽  
K S Ramanujam ◽  
K Ramaswamy ◽  
D F Patterson ◽  
B Seetharam
Keyword(s):  
Brush Border ◽  
Intrinsic Factor ◽  
Cobalamin Malabsorption

Short-term oral cobalamin therapy for food-related cobalamin malabsorption

2003 ◽  
Vol 37 ◽  
pp. 301-302 ◽  
Author(s):  
Emmanuel Andrès ◽  
Georges Kaltenbach ◽  
Esther Noel ◽  
Marie Noblet-Dick ◽  
Anne-Elisabeth Perrin
Keyword(s):  
Short Term ◽  
Cobalamin Malabsorption

Genetic Evidence of an Accessory Activity Required Specifically for Cubilin Brush-Border Expression and Intrinsic Factor-Cobalamin Absorption

Blood ◽  
1999 ◽  
Vol 94 (10) ◽  
pp. 3604-3606 ◽  
Author(s):  
Danbin Xu ◽  
Renata Kozyraki ◽  
Thomas C. Newman ◽  
John C. Fyfe
Keyword(s):  
Brush Border ◽  
Genetic Basis ◽  
Intrinsic Factor ◽  
Canine Model ◽  
Renal Tubules ◽  
Locus Heterogeneity ◽  
High Identity ◽  
Protein Reabsorption ◽  
Cobalamin Absorption ◽  
Cobalamin Malabsorption

Cubilin is a high molecular weight multiligand receptor that mediates intestinal absorption of intrinsic factor-cobalamin and selective protein reabsorption in renal tubules. The genetic basis of selective intestinal cobalamin malabsorption with proteinuria was investigated in a canine model closely resembling human Imerslund-Gräsbeck syndrome caused by cubilin mutations. CanineCUBN cDNA was cloned and sequenced, showing high identity with human and rat CUBN cDNAs. An intragenic CUBN marker was identified in the canine family and used to test the hypothesis of genetic linkage of the disease and CUBN loci. Linkage was rejected, indicating that the canine disorder resembling Imerslund-Gräsbeck syndrome is caused by defect of a gene product other than cubilin. These results imply that there may be locus heterogeneity among human kindreds with selective intestinal cobalamin malabsorption and proteinuria and that normal brush-border expression of cubilin requires the activity of an accessory protein.

scholarly journals Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

2012 ◽  
Vol 7 (1) ◽  
pp. 56 ◽  
Author(s):  
Stephan M Tanner ◽  
Amy C Sturm ◽  
Elizabeth C Baack ◽  
Sandya Liyanarachchi ◽  
Albert de la Chapelle
Keyword(s):  
Cobalamin Malabsorption

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

2013 ◽  
Vol 45 (1) ◽  
pp. 148-150 ◽  
Author(s):  
Michaela Drögemüller ◽  
Vidhya Jagannathan ◽  
Judith Howard ◽  
Rémy Bruggmann ◽  
Cord Drögemüller ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Cobalamin Malabsorption
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