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

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

Childhood presentation of COL4A1 mutations

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

β2 and γ3 laminins are critical cortical basement membrane components: Ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia

(2012) Stephanie Radner et al.   Developmental Neurobiology

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

(2012) R. Lemmens et al.   HUMAN MOLECULAR GENETICS

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

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

Comparison of mRNA localization and regulation during endoplasmic reticulum stress in Drosophila cells

(2012) Deepika Gaddam et al.   MOLECULAR BIOLOGY OF THE CELL

COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers

(2012) Anna Pichiecchio et al.   NEUROPEDIATRICS

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

(2012) Vandana A. Gupta et al.   PLoS One

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

Neocortical molecular layer heterotopia in substrains of C57BL/6 and C57BL/10 mice

(2011) Danielle M. Lipoff et al.   BRAIN RESEARCH

Cell-matrix interactions in muscle disease

(2011) Virginie Carmignac et al.   JOURNAL OF PATHOLOGY

Recessive LAMC3 mutations cause malformations of occipital cortical development

(2011) Tanyeri Barak et al.   NATURE GENETICS

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

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

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

(2010) Verena Matejas et al.   HUMAN MUTATION

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

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

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

Regulated Ire1-dependent decay of messenger RNAs in mammalian cells

(2009) Julie Hollien et al.   JOURNAL OF CELL BIOLOGY

Ophthalmological Aspects of Pierson Syndrome

(2008) Cecilie Bredrup et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Mammalian collagen IV

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