Megalin–deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

(2013) I. Schrauwen et al.   CLINICAL GENETICS

Notch2 regulates BMP signaling and epithelial morphogenesis in the ciliary body of the mouse eye

(2013) Y. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*

(2012) Tina Storm et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Endocytic Receptors in the Renal Proximal Tubule

(2012) Erik I. Christensen et al.   PHYSIOLOGY

New Insights into the Roles of Megalin/LRP2 and the Regulation of its Functional Expression

(2011) María-Paz Marzolo et al.   BIOLOGICAL RESEARCH

Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma

(2011) Kerry N. Veth et al.   PLoS Genetics

Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule

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

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygousLRP2mutation due to complete chromosome 2 paternal isodisomy

(2008) Sibel Kantarci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

(2008) Barbara R. Pober et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY