Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency of MMP17/MT4-MMP Proteolytic Activity Predisposes to Aortic Aneurysm in MiceNovelty and Significance

(2015) Mara Martín-Alonso et al.   CIRCULATION RESEARCH

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

(2014) Bas F.J. Wanschers et al.   HUMAN MOLECULAR GENETICS

Update on the Evaluation and Treatment of Osteogenesis Imperfecta

(2014) Jennifer Harrington et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Expression and clinical significance of matrix metalloproteinase-17 and -25 in gastric cancer

(2014) YING WANG et al.   Oncology Letters

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

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Trafficking mechanisms of extracellular matrix macromolecules: Insights from vertebrate development and human diseases

(2013) Gokhan Unlu et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

(2013) Sofie Symoens et al.   Orphanet Journal of Rare Diseases

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessively Inherited Forms of Osteogenesis Imperfecta

(2012) Peter H. Byers et al.   Annual Review of Genetics

The Endoplasmic Reticulum Stress Transducer OASIS Is involved in the Terminal Differentiation of Goblet Cells in the Large Intestine

(2012) Rie Asada et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

BBF2H7-Mediated Sec23A Pathway Is Required for Endoplasmic Reticulum-to-Golgi Trafficking in Dermal Fibroblasts to Promote Collagen Synthesis

(2012) Seiko Ishikura-Kinoshita et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

ER Cargo Properties Specify a Requirement for COPII Coat Rigidity Mediated by Sec13p

(2012) A. Copic et al.   SCIENCE

The signalling from endoplasmic reticulum-resident bZIP transcription factors involved in diverse cellular physiology

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OASIS/CREB3L1 Induces Expression of Genes Involved in Extracellular Matrix Production But Not Classical Endoplasmic Reticulum Stress Response Genes in Pancreatic β-Cells

(2010) Ravi N. Vellanki et al.   ENDOCRINOLOGY

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis

(2009) Atsushi Saito et al.   NATURE CELL BIOLOGY

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

(2009) Tomohiko Murakami et al.   NATURE CELL BIOLOGY

Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs

(2009) S. Kosugi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MT4-(MMP17) and MT6-MMP (MMP25), A unique set of membrane-anchored matrix metalloproteinases: properties and expression in cancer

(2008) Anjum Sohail et al.   CANCER AND METASTASIS REVIEWS