ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting fromCol4a1mutations in mice

Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation

(2016) Seiichi Tomotaki et al.   Pediatrics and Neonatology

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease

(2015) Z. Chen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease

(2015) K. Rannikmae et al.   NEUROLOGY

Hypertrophy in the Distal Convoluted Tubule of an 11 -Hydroxysteroid Dehydrogenase Type 2 Knockout Model

(2014) R. W. Hunter et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

(2013) Lydia S. Murray et al.   HUMAN MOLECULAR GENETICS

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

(2013) Debbie S. Kuo et al.   HUMAN MOLECULAR GENETICS

Laminin  2 Gene Missense Mutation Produces Endoplasmic Reticulum Stress in Podocytes

(2013) Y. M. Chen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Albuminuria is associated with too few glomeruli and too much testosterone

(2013) David A. Long et al.   KIDNEY INTERNATIONAL

Endoplasmic reticulum stress signal impairs erythropoietin production: a role for ATF4

(2012) Chih-Kang Chiang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

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

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

Failure to Downregulate the Epithelial Sodium Channel Causes Salt Sensitivity in Hsd11b2 Heterozygote Mice

(2012) Eilidh Craigie et al.   HYPERTENSION

Central diabetes insipidus associated with impaired renal aquaporin-1 expression in mice lacking liver X receptor  

(2012) C. Gabbi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Shaping Cells and Organs in Drosophila by Opposing Roles of Fat Body-Secreted Collagen IV and Perlecan

(2011) José Carlos Pastor-Pareja et al.   DEVELOPMENTAL CELL

Familial forms of diabetes insipidus: clinical and molecular characteristics

(2011) Muriel Babey et al.   Nature Reviews Endocrinology

Tendon Is Covered by a Basement Membrane Epithelium That Is Required for Cell Retention and the Prevention of Adhesion Formation

(2011) Susan H. Taylor et al.   PLoS One

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

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

(2010) Katayoun Vahedi et al.   CURRENT OPINION IN NEUROLOGY

Restoring endoplasmic reticulum function by chemical chaperones: an emerging therapeutic approach for metabolic diseases

(2010) F. Engin et al.   DIABETES OBESITY & METABOLISM

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

Proteinuria and events beyond the slit

(2010) Rikke Nielsen et al.   PEDIATRIC NEPHROLOGY

Basement membranes and human disease

(2009) Tom Van Agtmael et al.   CELL AND TISSUE RESEARCH

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

(2009) Siân E. Williams et al.   HUMAN MOLECULAR GENETICS

Mineralocorticoid and Glucocorticoid Receptors Stimulate Epithelial Sodium Channel Activity in a Mouse Model of Cushing Syndrome

(2009) Matthew A. Bailey et al.   HYPERTENSION

Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome

(2009) G. Mollet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Cellular Origins of Type IV Collagen Networks in Developing Glomeruli

(2009) D. R. Abrahamson et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic analysis of albuminuria in aging mice and concordance with loci for human diabetic nephropathy found in a genome-wide association scan

(2009) Shirng-Wern Tsaih et al.   KIDNEY INTERNATIONAL

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

Coronary Calcium Score in Renal Transplant Recipients

(2009) Petr Bubenicek et al.   NEPHRON CLINICAL PRACTICE

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

(2009) S. Alamowitch et al.   NEUROLOGY

Mammalian collagen IV

(2008) Jamshid Khoshnoodi et al.   MICROSCOPY RESEARCH AND TECHNIQUE