2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). Journal Of Medical Genetics 2018, 56: 332. PMID: 30487245, PMCID: PMC6581149, DOI: 10.1136/jmedgenet-2018-105623.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleBrainChildChild, PreschoolConsanguinityExome SequencingFaciesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHomozygoteHumansInfantLoss of Function MutationMagnetic Resonance ImagingMaleModels, MolecularNeurodevelopmental DisordersPedigreePhenotypePolymorphism, Single NucleotideProtein ConformationSyndromeConceptsScrotal agenesisCerebellar hypoplasiaCharacteristic facial gestaltHomozygous truncating variantConsanguineous familyUnrelated consanguineous familiesOphthalmological anomaliesSyndromic neurodevelopmental disorderCardinal featuresCerebello-oculoCorneal dystrophyLabioscrotal foldsTruncating variantsFunction variantsFacial gestaltExome sequencingSyndromeSimilar phenotypic featuresGenetic causeFacial dysmorphismNeurodevelopmental disordersMissense variantsVariable microcephalyNeurodevelopmental syndromeAffected individuals
2004
The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells
Komuro A, Masuda Y, Kobayashi K, Babbitt R, Gunel M, Flavell RA, Marchesi VT. The AHNAKs are a class of giant propeller-like proteins that associate with calcium channel proteins of cardiomyocytes and other cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 4053-4058. PMID: 15007166, PMCID: PMC384694, DOI: 10.1073/pnas.0308619101.Peer-Reviewed Original Research