Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

(2018) Nicoletta Zoppi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function

(2018) Clare Rogerson et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

(2018) Roberta Besio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CCPG1 Is a Non-canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis

(2018) Matthew D. Smith et al.   DEVELOPMENTAL CELL

Defective collagen proteostasis and matrix formation in the pathogenesis of lysosomal storage disorders

(2018) Carmine Settembre et al.   MATRIX BIOLOGY

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

(2018) Nicola Chiarelli et al.   PLoS One

Complement C3 Exacerbates Imiquimod-Induced Skin Inflammation and Psoriasiform Dermatitis

(2017) Chiara Giacomassi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

EDIL3 knockdown inhibits retinal angiogenesis through the induction of cell cycle arrest in vitro

(2017) Wei Shen et al.   Molecular Medicine Reports

DDIAS suppresses TRAIL-mediated apoptosis by inhibiting DISC formation and destabilizing caspase-8 in cancer cells

(2017) Joo-Young Im et al.   ONCOGENE

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation inCOL1A1: Report on a three-generation family without cardiovascular events, and literature review

(2016) Marina Colombi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type V Collagen in Health, Disease, and Fibrosis

(2016) Ki M. Mak et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Periostin as a multifunctional modulator of the wound healing response

(2016) John T. Walker et al.   CELL AND TISSUE RESEARCH

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

(2016) Nicola Chiarelli et al.   PLoS One

Del1 Knockout Mice Developed More Severe Osteoarthritis Associated with Increased Susceptibility of Chondrocytes to Apoptosis

(2016) Zhen Wang et al.   PLoS One

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

(2016) Blerida Banushi et al.   Nature Communications

Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers–Danlos syndrome

(2015) John DeNigris et al.   CONNECTIVE TISSUE RESEARCH

Effects of IGFBP-1 and IGFBP-2 and their fragments on migration and IGF-induced proliferation of human dermal fibroblasts

(2015) Katrin Brandt et al.   GROWTH HORMONE & IGF RESEARCH

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

(2015) Nicoletta Zoppi et al.   HUMAN MOLECULAR GENETICS

Decorin is an autophagy-inducible proteoglycan and is required for proper in vivo autophagy

(2015) Maria A. Gubbiotti et al.   MATRIX BIOLOGY

Extracellular Matrix Reorganization During Wound Healing and Its Impact on Abnormal Scarring

(2015) Meilang Xue et al.   Advances in Wound Care

Instructive Roles of Extracellular Matrix on Autophagy

(2014) Thomas Neill et al.   AMERICAN JOURNAL OF PATHOLOGY

Osteopontin Knockdown Inhibits av,�3Integrin-Induced Cell Migration and Invasion and Promotes Apoptosis of Breast Cancer Cells by Inducing Autophagy and Inactivating the PI3K/Akt/mTOR Pathway

(2014) Hao Zhang et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Complement Deficiency Promotes Cutaneous Wound Healing in Mice

(2014) Stavros Rafail et al.   JOURNAL OF IMMUNOLOGY

The Role of the Extracellular Matrix Components in Cutaneous Wound Healing

(2014) Pawel Olczyk et al.   Biomed Research International

Cdks, cyclins and CKIs: roles beyond cell cycle regulation

(2013) S. Lim et al.   DEVELOPMENT

Expression of integrin and CD44 receptors recognising osteopontin in the normal and LPS-lesioned rat substantia nigra

(2013) Sara Ailane et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

CORVET and HOPS tethering complexes - coordinators of endosome and lysosome fusion

(2013) H. J. k. Balderhaar et al.   JOURNAL OF CELL SCIENCE

The matricellular protein periostin contributes to proper collagen function and is downregulated during skin aging

(2013) M. Egbert et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Regulation of nucleosome dynamics by histone modifications

(2013) Gabriel E Zentner et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

(2013) Marco Ritelli et al.   Orphanet Journal of Rare Diseases

Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers–Danlos syndrome fibroblasts

(2012) Nicoletta Zoppi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Complement Activation and Inhibition in Wound Healing

(2012) Gwendolyn Cazander et al.   Clinical & Developmental Immunology

The Ehlers-Danlos syndrome, a disorder with many faces

(2012) A De Paepe et al.   CLINICAL GENETICS

Periostin, a matricellular protein, accelerates cutaneous wound repair by activating dermal fibroblasts

(2012) Kanako Ontsuka et al.   EXPERIMENTAL DERMATOLOGY

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

(2012) Sofie Symoens et al.   HUMAN MUTATION

Osteopontin in Systemic Sclerosis and Its Role in Dermal Fibrosis

(2012) Minghua Wu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Periostin in fibrillogenesis for tissue regeneration: periostin actions inside and outside the cell

(2011) Akira Kudo   CELLULAR AND MOLECULAR LIFE SCIENCES

Different p97/VCP complexes function in retrotranslocation step of mammalian Er-associated degradation (ERAD)

(2011) Petek Ballar et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

SVIP Induces Localization of p97/VCP to the Plasma and Lysosomal Membranes and Regulates Autophagy

(2011) Yang Wang et al.   PLoS One

The angiogenic factor Del1 prevents apoptosis of endothelial cells through integrin binding

(2011) Zhen Wang et al.   SURGERY

Quality and quantity control at the endoplasmic reticulum

(2010) Ramanujan S Hegde et al.   CURRENT OPINION IN CELL BIOLOGY

Complement: a key system for immune surveillance and homeostasis

(2010) Daniel Ricklin et al.   NATURE IMMUNOLOGY

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection

(2009) Yoshihito Ishida et al.   MOLECULAR BIOLOGY OF THE CELL

Regulation of ER-associated degradation via p97/VCP-interacting motif

(2008) Petek Ballar et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts

(2008) Nicoletta Zoppi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Extracellular matrix regulation of autophagy

(2008) Rebecca Lock et al.   CURRENT OPINION IN CELL BIOLOGY

Protein quality control in the early secretory pathway

(2008) Tiziana Anelli et al.   EMBO JOURNAL

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

(2008) Sofie Symoens et al.   HUMAN MUTATION

Molecular mechanisms linking wound inflammation and fibrosis: knockdown of osteopontin leads to rapid repair and reduced scarring

(2008) Ryoichi Mori et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Rescue of Migratory Defects of Ehlers–Danlos Syndrome Fibroblasts In Vitro by Type V Collagen but not Insulin-Like Binding Protein-1

(2008) Simona Viglio et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Immune cells in the healing skin wound: Influential players at each stage of repair

(2008) T WILGUS   PHARMACOLOGICAL RESEARCH

Functional role of periostin in development and wound repair: implications for connective tissue disease

(2008) Douglas W. Hamilton   Journal of Cell Communication and Signaling

Induction of Autophagy during Extracellular Matrix Detachment Promotes Cell Survival

(2007) Christopher Fung et al.   MOLECULAR BIOLOGY OF THE CELL