Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

(2013) John C. Fyfe et al.   MOLECULAR GENETICS AND METABOLISM

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

(2012) Stephan M Tanner et al.   Orphanet Journal of Rare Diseases

Endocytic Receptors in the Renal Proximal Tubule

(2012) Erik I. Christensen et al.   PHYSIOLOGY

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7

(2011) F. Namour et al.   HAEMATOLOGICA

Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria

(2011) B. Ovunc et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Patient with Cubilin Deficiency

(2011) Tina Storm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

(2011) Cameron M Beech et al.   Orphanet Journal of Rare Diseases

Juvenile Selective Vitamin B12 Malabsorption: 50 Years After Its Description—10 Years of Genetic Testing

(2011) Ralph Gräsbeck et al.   PEDIATRIC RESEARCH

The visceral yolk sac endoderm provides for absorption of nutrients to the embryo during neurulation

(2010) Irene E. Zohn et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule

(2010) S. Amsellem et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Structural basis for receptor recognition of vitamin-B12–intrinsic factor complexes

(2010) Christian Brix Folsted Andersen et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Molecular Study of Proteinuria in Patients Treated with B12 Supplements: Do Not Forget Megaloblastic Anemia Type 1

(2010) Nomy Levin-Iaina et al.   NEPHRON CLINICAL PRACTICE

AMN Directs Endocytosis of the Intrinsic Factor-Vitamin B12 Receptor Cubam by Engaging ARH or Dab2

(2010) Gitte Albinus Pedersen et al.   TRAFFIC

Receptor-mediated endocytosis in renal proximal tubule

(2009) Erik Ilsø Christensen et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Interactions of cubilin with megalin and the product of the amnionless gene (AMN): effect on its stability

(2008) Rajiv Ahuja et al.   BIOCHEMICAL JOURNAL

Site-directed, Ligase-Independent Mutagenesis (SLIM) for highly efficient mutagenesis of plasmids greater than 8kb

(2008) Joyce Chiu et al.   JOURNAL OF MICROBIOLOGICAL METHODS