Associated Papers
Generic residue numbering of the GAIN domain of adhesion GPCRs.
Seufert F et al.
Nature Communications, 2025
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
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
Structural Basis for Regulation of GPR56/ADGRG1 by Its Alternatively Spliced Extracellular Domains.
Salzman GS et al.
Neuron, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
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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