Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Journal of Medical Genetics

• Publication date

  2017-03-03

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmedgenet-2016-104421PMID 28258187
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

  2018cited by this paper
• The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

  2015cited by this paper
• Malformations of cortical development and epilepsy.

  2015cited by this paper
• An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

  2014cited by this paper
• Malformations of cortical development: clinical features and genetic causes.

  2014cited by this paper
• Mechanism for Adhesion G Protein-Coupled Receptor GPR56-Mediated RhoA Activation Induced By Collagen III Stimulation

  2014cited by this paper
• Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

  2014cited by this paper
• Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

  2014cited by this paper
• GPR56 Functions Together with α3β1 Integrin in Regulating Cerebral Cortical Development

  2013cited by this paper
• A developmental and genetic classification for malformations of cortical development: update 2012

  2012cited by this paper
• Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

  2012cited by this paper
• Loss of Col3a1, the Gene for Ehlers-Danlos Syndrome Type IV, Results in Neocortical Dyslamination

  2012cited by this paper
• G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

  2011cited by this paper
• GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

  2010cited by this paper
• GPR56-Regulated Granule Cell Adhesion Is Essential for Rostral Cerebellar Development

  2009cited by this paper
• Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

  2009cited by this paper
• GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

  2008cited by this paper
• Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

  2007cited by this paper
• Reelin Signals through Phosphatidylinositol 3-Kinase and Akt To Control Cortical Development and through mTor To Regulate Dendritic Growth

  2007cited by this paper
• The NH2-terminal Propeptide of Type I Procollagen Acts Intracellularly to Modulate Cell Function*

  2006cited by this paper
• Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.

  2004cited by this paper
• Malformations of cortical development and epilepsy.

  2001cited by this paper
• Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.

  1997cited by this paper
• Heterozygous manifestations in the heritable disorders of the skeleton

  1997cited by this paper
• Congenital malformations of the brain and skull

  1977cited by this paper

• De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder

  2025cites this paper
• Bildgebung bei Fehlbildungen der kortikalen Entwicklung: ein Update

  2025cites this paper
• Malformations of Cortical Development: Updated Imaging Review.

  2024cites this paper
• Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

  2023cites this paper
• The lncRNA XIST/miR-29b-3p/COL3A1 axis regulates central carbon metabolism in head and neck squamous cell carcinoma and is associated with poor tumor prognosis

  2023cites this paper
• Cobblestone‐like brain malformation with a new bi‐allelic ADGRG1 (GPR‐56) mutation: Fetal imaging‐pathology correlation

  2023cites this paper
• Functions of G protein‐coupled receptor 56 in health and disease

  2022cites this paper
• The dysmorphic phenotype in vascular Ehlers Danlos syndrome

  2022cites this paper
• Novel variants identified in a three‑generation family with concomitant exotropia

  2022cites this paper
• Type III Collagen is Required for Adipogenesis and Actin Stress Fibre Formation in 3T3-L1 Preadipocytes

  2021cites this paper
• Collagens in the Physiopathology of the Ehlers–Danlos Syndromes

  2021cites this paper
• Diagnostic Approach to Cerebellar Hypoplasia

  2021cites this paper
• Procollagen type III amino‐terminal propeptide and insulin‐like growth factor I as biomarkers of growth hormone administration

  2021cites this paper
• Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome

  2021cites this paper
• Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential

  2021cites this paper
• Definitions and classification of malformations of cortical development: practical guidelines

  2020cites this paper
• The Ehlers–Danlos syndromes

  2020cites this paper
• GPR56: An Adhesion GPCR Involved in Brain Development, Neurological Disorders and Cancer.

  2020cites this paper
• Cerebellar dysplasia related to PIK3CA mutation: a three-case series

  2020cites this paper
• Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology

  2020cites this paper
• Insight into developmental mechanisms of global and focal migration disorders of cortical development.

  2020cites this paper
• Cardiac ECM: Its Epigenetic Regulation and Role in Heart Development and Repair

  2020cites this paper
• Development of the Central Nervous System

  2019cites this paper
• Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.

  2019cites this paper
• Fetal and neonatal neurogenetics.

  2019cites this paper
• Posterior Fossa Malformations.

  2019cites this paper
• Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

  2019cites this paper
• Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

  2019cites this paper
• Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

  2019cites this paper
• Ehlers-Danlos syndromes and epilepsy: An updated review.

  2018cites this paper
• Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

  2018cites this paper
• Cardiac Extracellular Matrix

  2018cites this paper
• Vascular aspects of the Ehlers-Danlos Syndromes.

  2018cites this paper
• Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

  2017cites this paper
• Genetics and mechanisms leading to human cortical malformations.

  2017cites this paper