Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

(2019) Eliana Marisa Ramos et al.   NEUROGENETICS

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

(2019) Lou Grangeon et al.   BRAIN

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China

(2019) Si Chen et al.   PARKINSONISM & RELATED DISORDERS

New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

(2019) Laura D Ferreira et al.   BRAIN

Primary familial brain calcifications

(2019) Ana Westenberger et al.   CURRENT OPINION IN NEUROLOGY

Mice Knocked Out for the Primary Brain Calcification–Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time

(2018) Nina Jensen et al.   AMERICAN JOURNAL OF PATHOLOGY

Junctional adhesion molecules JAM-B and JAM-C promote autoimmune-mediated liver fibrosis in mice

(2018) Edith Hintermann et al.   JOURNAL OF AUTOIMMUNITY

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

(2018) Xiang-Ping Yao et al.   NEURON

A molecular atlas of cell types and zonation in the brain vasculature

(2018) Michael Vanlandewijck et al.   NATURE

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

(2018) Yalda Forouhideh et al.   BRAIN

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain

(2018) Y. Peng et al.   CLINICAL GENETICS

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification

(2018) You Chen et al.   MOVEMENT DISORDERS

MYORG is associated with recessive primary familial brain calcification

(2018) David Arkadir et al.   Annals of Clinical and Translational Neurology

Somatodendritic Expression of JAM2 Inhibits Oligodendrocyte Myelination

(2016) Stephanie A. Redmond et al.   NEURON

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

(2015) Andrea Legati et al.   NATURE GENETICS

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

Fahr's disease in two siblings in a family: A case report

(2015) HONG WANG et al.   Experimental and Therapeutic Medicine

Tight junction dynamics: the role of junctional adhesion molecules (JAMs)

(2014) S. Garrido-Urbani et al.   CELL AND TISSUE RESEARCH

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain

(2013) Masatoshi Inden et al.   BRAIN RESEARCH

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Pericyte loss influences Alzheimer-like neurodegeneration in mice

(2013) Abhay P. Sagare et al.   Nature Communications

Relationship Between Cyclophilin A Levels and Matrix Metalloproteinase 9 Activity in Cerebrospinal Fluid of Cognitively Normal Apolipoprotein E4 Carriers and Blood-Brain Barrier Breakdown

(2013) Matthew R. Halliday et al.   JAMA Neurology

Blood–spinal cord barrier breakdown and pericyte reductions in amyotrophic lateral sclerosis

(2012) Ethan A. Winkler et al.   ACTA NEUROPATHOLOGICA

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Delineation of the Clinical, Molecular and Cellular Aspects of NovelJAM3Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

(2012) Nadia A. Akawi et al.   HUMAN MUTATION

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Pericytes as a new target for pathological processes in CADASIL

(2012) Dorota Dziewulska et al.   NEUROPATHOLOGY

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

(2010) Mary C. O'Driscoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

(2010) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Pericytes regulate the blood–brain barrier

(2010) Annika Armulik et al.   NATURE

Pericytes are required for blood–brain barrier integrity during embryogenesis

(2010) Richard Daneman et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Endothelial-Mural Cell Signaling in Vascular Development and Angiogenesis

(2009) Konstantin Gaengel et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY