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
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
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Vetrini F et al.
American Journal of Human Genetics, 2016
Structural Basis for Regulation of GPR56/ADGRG1 by Its Alternatively Spliced Extracellular Domains.
Salzman GS et al.
Neuron, 2016
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 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
G protein-coupled receptor-dependent development of human frontal cortex.
Piao X et al.
Science (new York, N.y.), 2004
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