Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Crystallographic Insight into Collagen Recognition by Discoidin Domain Receptor 2

(2009) Federico Carafoli et al.   STRUCTURE

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

(2008) Ruth Bargal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

(2008) Cristina Dias et al.   CLINICAL DYSMORPHOLOGY

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

(2008) Sarah F. Smithson et al.   CLINICAL DYSMORPHOLOGY

Protein quality control in the early secretory pathway

(2008) Tiziana Anelli et al.   EMBO JOURNAL

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

(2008) A. N. Hume et al.   HUMAN MOLECULAR GENETICS

Characterization of High Affinity Binding Motifs for the Discoidin Domain Receptor DDR2 in Collagen

(2008) Antonios D. Konitsiotis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene,Ddr2, in the Mouse

(2008) Kiyoshi Kano et al.   MOLECULAR ENDOCRINOLOGY

The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

(2008) Beyhan Tüysüz et al.   PEDIATRIC RADIOLOGY

The Recognition and Retrotranslocation of Misfolded Proteins from the Endoplasmic Reticulum

(2008) Kunio Nakatsukasa et al.   TRAFFIC

Ror receptor tyrosine kinases: orphans no more

(2008) Jennifer L. Green et al.   TRENDS IN CELL BIOLOGY