Associated Papers
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
Khan S et al.
The Journal of Gene Medicine, 2023
Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria.
Jha R et al.
Journal of Pediatric Genetics, 2022
Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.
Lin WX et al.
World Journal of Clinical Cases, 2022
GPR56: An adhesion GPCR involved in brain development, neurological disorders and cancer.
Ganesh RA et al.
Brain Research, 2020
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
Öncü-Öner T et al.
The Turkish Journal of Pediatrics, 2018
Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling.
Kishore A et al.
The Journal of Biological Chemistry, 2017
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.
Desai NA et al.
Journal of Child Neurology, 2015
Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.
Fujii Y et al.
Brain & Development, 2014
Disease-associated mutations prevent GPR56-collagen III interaction.
Luo R et al.
Plos One, 2012
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.
Chiang NY et al.
The Journal of Biological Chemistry, 2011
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Parrini E et al.
Epilepsia, 2009
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
Jin Z et al.
Human Molecular Genetics, 2007
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X et al.
Annals of Neurology, 2005
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