Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

BMP9 and BMP10 are critical for postnatal retinal vascular remodeling

(2012) N. Ricard et al.   BLOOD

Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia

(2011) Bassam R. Ali et al.   PLoS One

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

(2010) N. Ricard et al.   BLOOD

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

(2010) J McDonald et al.   CLINICAL GENETICS

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

(2010) Bassam R. Ali et al.   HUMAN MOLECULAR GENETICS

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

(2010) S. DUPUIS-GIROD et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Protein quality control in the ER: The recognition of misfolded proteins

(2010) Pekka Määttänen et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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