COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Childhood presentation of COL4A1 mutations

(2012) SIDDHARTH SHAH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prenatal genetic confirmation of aCOL4A1mutation presenting with sonographic fetal intracranial hemorrhage

(2012) K. D. Lichtenbelt et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

(2011) Shikma Mordechai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

(2011) Yuriko Yoneda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

(2011) Yi-Chinn Weng et al.   ANNALS OF NEUROLOGY

Lysyl oxidase-like protein-2 regulates sprouting angiogenesis and type IV collagen assembly in the endothelial basement membrane

(2011) M. Bignon et al.   BLOOD

Lysyl hydroxylase 3 is secreted from cells by two pathways

(2011) Chunguang Wang et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Drosophila basement membrane collagen col4a1 mutations cause severe myopathy

(2011) Ildikó Kelemen-Valkony et al.   MATRIX BIOLOGY

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

(2011) M. E. C. Meuwissen et al.   NEUROLOGY

Fetal Origin of Brain Damage in 2 Infants with aCOL4A1Mutation: Fetal and Neonatal MRI

(2011) R. J. Vermeulen et al.   NEUROPEDIATRICS

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

(2011) J. Livingston et al.   NEUROPEDIATRICS

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

(2011) Cassandre Labelle-Dumais et al.   PLoS Genetics

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

(2010) Emmanuelle Plaisier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MicroRNA-29, a key regulator of collagen expression in systemic sclerosis

(2010) Britta Maurer et al.   ARTHRITIS AND RHEUMATISM

Prolyl 4-hydroxylase

(2010) Kelly L. Gorres et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Hemocyte-Secreted Type IV Collagen Enhances BMP Signaling to Guide Renal Tubule Morphogenesis in Drosophila

(2010) Stephanie Bunt et al.   DEVELOPMENTAL CELL

High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells

(2010) Bin Du et al.   FEBS LETTERS

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume

(2010) Tom Van Agtmael et al.   HUMAN MOLECULAR GENETICS

Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes

(2010) J. Des Parkin et al.   HUMAN MUTATION

Renal Medullary MicroRNAs in Dahl Salt-Sensitive Rats

(2010) Yong Liu et al.   HYPERTENSION

Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones

(2010) Janice A. Vranka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Post-transcriptional Up-regulation of Tsc-22 by Ybx1, a Target of miR-216a, Mediates TGF-β-induced Collagen Expression in Kidney Cells

(2010) Mitsuo Kato et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

miR-192 Mediates TGF- /Smad3-Driven Renal Fibrosis

(2010) A. C. K. Chung et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION

(2010) T. Rouaud et al.   NEUROLOGY

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

(2009) Linda S. de Vries et al.   ANNALS OF NEUROLOGY

Autophagy eliminates a specific species of misfolded procollagen and plays a protective role in cell survival against ER stress

(2009) Yoshihito Ishida et al.   Autophagy

Expression of Prolyl 3-hydroxylase Genes in Embryonic and Adult Mouse Tissues

(2009) Janice Vranka et al.   CELL STRUCTURE AND FUNCTION

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

(2009) Siddharth Shah et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

(2009) Zeynep Firtina et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Biological Functions of miR-29b Contribute to Positive Regulation of Osteoblast Differentiation

(2009) Zhaoyong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

COL4A1 Mutation in Preterm Intraventricular Hemorrhage

(2009) Kaya Bilguvar et al.   JOURNAL OF PEDIATRICS

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

(2009) S. Alamowitch et al.   NEUROLOGY

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

(2008) Antti M. Salo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prolyl 4-hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets

(2008) Johanna Myllyharju   ANNALS OF MEDICINE

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

(2008) T. Pan et al.   BRAIN

TGF-β signaling in vascular biology and dysfunction

(2008) Marie-José Goumans et al.   CELL RESEARCH

Characterization of the anti-angiogenic properties of arresten, an α1β1 integrin-dependent collagen-derived tumor suppressor

(2008) Pia Nyberg et al.   EXPERIMENTAL CELL RESEARCH

Characterization of Recombinant Human Prolyl 3-Hydroxylase Isoenzyme 2, an Enzyme Modifying the Basement Membrane Collagen IV

(2008) Päivi Tiainen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Haemocyte-derived SPARC is required for collagen-IV-dependent stability of basal laminae in Drosophila embryos

(2008) N. Martinek et al.   JOURNAL OF CELL SCIENCE

Type IV collagens regulate BMP signalling in Drosophila

(2008) Xiaomeng Wang et al.   NATURE

MicroRNA 29c is down-regulated in nasopharyngeal carcinomas, up-regulating mRNAs encoding extracellular matrix proteins

(2008) S. Sengupta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Antioxidants reduce endoplasmic reticulum stress and improve protein secretion

(2008) J. D. Malhotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis of sequence-specific collagen recognition by SPARC

(2008) E. Hohenester et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA