A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

PubWeight™: 0.83‹?›

🔗 View Article (PMC 3135102)

Published in Pediatr Neurol on July 01, 2011

Authors

Rong Luo1, Hye Min Yang, Zhaohui Jin, Dicky J J Halley, Bernard S Chang, Lesley MacPherson, Louise Brueton, Xianhua Piao

Author Affiliations

1: Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Articles cited by this

G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42

A mechanism for Wnt coreceptor activation. Mol Cell (2004) 4.31

A developmental and genetic classification for malformations of cortical development. Neurology (2005) 3.50

From hematopoiesis to neuropoiesis: evidence of overlapping genetic programs. Proc Natl Acad Sci U S A (2001) 2.66

GPR56, an atypical G protein-coupled receptor, binds tissue transglutaminase, TG2, and inhibits melanoma tumor growth and metastasis. Proc Natl Acad Sci U S A (2006) 2.08

GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci (2008) 1.93

The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. Genomics (2004) 1.90

Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev (2002) 1.47

GPR56 is a GPCR that is overexpressed in gliomas and functions in tumor cell adhesion. Oncogene (2005) 1.43

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol (2005) 1.37

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet (2007) 1.34

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol (2003) 1.33

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet (2002) 1.20

Functional cross-interaction of the fragments produced by the cleavage of distinct adhesion G-protein-coupled receptors. J Biol Chem (2009) 1.09

Articles by these authors

G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42

Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13

Retracted Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem (2002) 2.97

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet (2010) 2.74

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40

GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci (2008) 1.93

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol (2006) 1.87

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science (2014) 1.85

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet (2009) 1.58

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proc Natl Acad Sci U S A (2011) 1.53

A functional role for nicotine in Bcl2 phosphorylation and suppression of apoptosis. J Biol Chem (2002) 1.46

The relationship of interictal epileptiform discharges to clinical epilepsy severity: a study of routine electroencephalograms and review of the literature. J Clin Neurophysiol (2010) 1.45

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A (2010) 1.40

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol (2005) 1.37

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. Eur J Hum Genet (2005) 1.35

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet (2007) 1.34

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat (2006) 1.34

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol (2003) 1.33

Application of Matched-Filtering to Extract EEG Features and Decouple Signal Contributions from Multiple Seizure Foci in Brain Malformations. Int IEEE EMBS Conf Neural Eng (2009) 1.32

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat (2009) 1.30

A survey of assisted reproductive technology births and imprinting disorders. Hum Reprod (2007) 1.30

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat (2008) 1.23

GPR56-regulated granule cell adhesion is essential for rostral cerebellar development. J Neurosci (2009) 1.23

Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A (2007) 1.22

Mutations in GRIP1 cause Fraser syndrome. J Med Genet (2012) 1.20

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. Eur J Hum Genet (2012) 1.17

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A (2007) 1.16

Identification and characterization of the interaction between tuberin and 14-3-3zeta. J Biol Chem (2002) 1.09

KCNJ10 mutations disrupt function in patients with EAST syndrome. Nephron Physiol (2011) 1.07

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism. Eur J Hum Genet (2011) 1.03

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A (2005) 1.03

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat (2010) 1.00

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. Eur J Hum Genet (2010) 1.00

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet (2002) 0.97

Preparation of chitosan-stabilized Fe(0) nanoparticles for removal of hexavalent chromium in water. Sci Total Environ (2009) 0.97

New multifunctional molecular conjugate vector for targeting, imaging, and therapy of tumors. Mol Ther (2005) 0.96

Characterization of G protein-coupled receptor 56 protein expression in the mouse developing neocortex. J Comp Neurol (2012) 0.95

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet (2015) 0.94

Multiscale information for network characterization in epilepsy. Conf Proc IEEE Eng Med Biol Soc (2011) 0.94

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. Am J Med Genet A (2006) 0.93

Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. Horm Res Paediatr (2012) 0.93

High-frequency neuronal network modulations encoded in scalp EEG precede the onset of focal seizures. Epilepsy Behav (2012) 0.92

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. Hum Mutat (2010) 0.91

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. Mol Genet Metab (2010) 0.91

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families. Epilepsia (2004) 0.91

Novel no-stop FLNA mutation causes multi-organ involvement in males. Am J Med Genet A (2013) 0.89

Abnormal structural and functional brain connectivity in gray matter heterotopia. Epilepsia (2012) 0.88

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). Eur J Hum Genet (2009) 0.88

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol (2012) 0.88

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. PLoS One (2012) 0.88

G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. FEBS J (2013) 0.88

GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration. Mol Neurobiol (2012) 0.88

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet (2008) 0.87

GPR56 and its related diseases. Prog Mol Biol Transl Sci (2009) 0.87

Physiological consequences of abnormal connectivity in a developmental epilepsy. Ann Neurol (2015) 0.87

Kinetics of hexavalent chromium removal from water by chitosan-Fe0 nanoparticles. Chemosphere (2009) 0.87

Integration of gray matter nodules into functional cortical circuits in periventricular heterotopia. Epilepsy Behav (2013) 0.86

Disease-associated mutations prevent GPR56-collagen III interaction. PLoS One (2012) 0.86

Combined cardiological and neurological abnormalities due to filamin A gene mutation. Clin Res Cardiol (2010) 0.86

Decreasing ammonium generation using hydrogenotrophic bacteria in the process of nitrate reduction by nanoscale zero-valent iron. Sci Total Environ (2009) 0.85

GPR56 functions together with α3β1 integrin in regulating cerebral cortical development. PLoS One (2013) 0.85

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. Am J Med Genet A (2013) 0.85

Gray matter volumes and cognitive ability in the epileptogenic brain malformation of periventricular nodular heterotopia. Epilepsy Behav (2009) 0.85

Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. Biochem Biophys Res Commun (2005) 0.85

One-step synthesis and characterization of core-shell Fe@SiO2 nanocomposite for Cr (VI) reduction. Sci Total Environ (2012) 0.84

It's All About Who You Know: The Importance of Connections in Understanding Epilepsy and Associated Cognitive Dysfunction. Epilepsy Curr (2014) 0.84

Dissecting signaling and functions of adhesion G protein-coupled receptors. Ann N Y Acad Sci (2012) 0.83

Neuropathy in a human without the PMP22 gene. Arch Neurol (2011) 0.82

Magnetic resonance spectroscopy suggests key differences in the metastatic behaviour of medulloblastoma. Eur J Cancer (2007) 0.82

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet (2013) 0.82

The Face (and Arm) of Treatment for Seizures in VGKC/LGI1 Antibody-Associated Limbic Encephalitis. Epilepsy Curr (2014) 0.82

Reactivity characteristics of poly(methyl methacrylate) coated nanoscale iron particles for trichloroethylene remediation. J Hazard Mater (2009) 0.82

Adhesion-GPCRs in the CNS. Adv Exp Med Biol (2010) 0.81

Network dynamics of the epileptic brain at rest. Conf Proc IEEE Eng Med Biol Soc (2010) 0.81

Estimation of brain state changes associated with behavior, stimulation and epilepsy. Conf Proc IEEE Eng Med Biol Soc (2009) 0.81

Univerricht-Lundborg disease: underdiagnosed in the Netherlands. Epilepsia (2004) 0.81

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification. Arch Neurol (2008) 0.80

Short echo time single voxel 1H magnetic resonance spectroscopy in the diagnosis and characterisation of pineal tumours in children. Pediatr Blood Cancer (2011) 0.80

Information theoretic measures of network coordination in high-frequency scalp EEG reveal dynamic patterns associated with seizure termination. Epilepsy Res (2013) 0.79

EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A (2005) 0.79

New functions and signaling mechanisms for the class of adhesion G protein-coupled receptors. Ann N Y Acad Sci (2014) 0.78

[Posterior pedicle screw system and interbody fusion in the treatment of degenerative scoliosis]. Beijing Da Xue Xue Bao (2003) 0.78

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev (2009) 0.78

Tubulinopathies and Their Brain Malformation Syndromes: Every TUB on Its Own Bottom. Epilepsy Curr (2015) 0.78

Diagnosing relapse in children's brain tumors using metabolite profiles. Neuro Oncol (2013) 0.78

Complete FXN deletion in a patient with Friedreich's ataxia. Genet Test Mol Biomarkers (2012) 0.78

Management of pyopagus conjoined twins. Childs Nerv Syst (2004) 0.77

Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. Am J Med Genet A (2014) 0.77

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat (2010) 0.77

Long-term clinical outcomes of selective segmental transforaminal lumbar interbody fusion combined with posterior spinal fusion for degenerative lumbar scoliosis. ANZ J Surg (2014) 0.77

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. Am J Med Genet A (2012) 0.77

Microdysgenesis: Historical roots of an important concept in epilepsy. Epilepsy Behav (2009) 0.77