{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Manual"},"PMID":{"@attributes":{"Version":"1"},"@text":"14730302"},"DateCompleted":{"Year":"2004","Month":"03","Day":"01"},"DateRevised":{"Year":"2026","Month":"01","Day":"28"},"Article":{"@attributes":{"PubModel":"Print-Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Print"},"@text":"1061-4036"},"JournalIssue":{"@attributes":{"CitedMedium":"Print"},"Volume":"36","Issue":"2","PubDate":{"Year":"2004","Month":"Feb"}},"Title":"Nature genetics","ISOAbbreviation":"Nat Genet"},"ArticleTitle":"A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.","Pagination":{"StartPage":"172","EndPage":"177","MedlinePgn":"172-7"},"Abstract":{"AbstractText":["Cell adhesion to extracellular matrix (ECM) proteins is crucial for the structural integrity of tissues and epithelial-mesenchymal interactions mediating organ morphogenesis. Here we describe how the loss of a cytoplasmic multi-PDZ scaffolding protein, glutamate receptor interacting protein 1 (GRIP1), leads to the formation of subepidermal hemorrhagic blisters, renal agenesis, syndactyly or polydactyly and permanent fusion of eyelids (cryptophthalmos). Similar malformations are characteristic of individuals with Fraser syndrome and animal models of this human genetic disorder, such as mice carrying the blebbed mutation (bl) in the gene encoding the Fras1 ECM protein. GRIP1 can physically interact with Fras1 and is required for the localization of Fras1 to the basal side of cells. In one animal model of Fraser syndrome, the eye-blebs (eb) mouse, Grip1 is disrupted by a deletion of two coding exons. Our data indicate that GRIP1 is required for normal cell-matrix interactions during early embryonic development and that inactivation of Grip1 causes Fraser syndrome-like defects in mice."]},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Takamiya","ForeName":"Kogo","Initials":"K","AffiliationInfo":[{"Affiliation":"Howard Hughes Medical Institute, Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Kostourou","ForeName":"Vassiliki","Initials":"V"},{"@attributes":{"ValidYN":"Y"},"LastName":"Adams","ForeName":"Susanne","Initials":"S"},{"@attributes":{"ValidYN":"Y"},"LastName":"Jadeja","ForeName":"Shalini","Initials":"S"},{"@attributes":{"ValidYN":"Y"},"LastName":"Chalepakis","ForeName":"Georges","Initials":"G"},{"@attributes":{"ValidYN":"Y"},"LastName":"Scambler","ForeName":"Peter J","Initials":"PJ"},{"@attributes":{"ValidYN":"Y"},"LastName":"Huganir","ForeName":"Richard L","Initials":"RL"},{"@attributes":{"ValidYN":"Y"},"LastName":"Adams","ForeName":"Ralf H","Initials":"RH"}]},"Language":["eng"],"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D013485"},"@text":"Research Support, Non-U.S. Gov't"},{"@attributes":{"UI":"D013487"},"@text":"Research Support, U.S. Gov't, P.H.S."}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2004","Month":"01","Day":"18"}]},"MedlineJournalInfo":{"Country":"United States","MedlineTA":"Nat Genet","NlmUniqueID":"9216904","ISSNLinking":"1061-4036"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D048868"},"@text":"Adaptor Proteins, Signal Transducing"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D000941"},"@text":"Antigens"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D002352"},"@text":"Carrier Proteins"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016326"},"@text":"Extracellular Matrix Proteins"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D009419"},"@text":"Nerve Tissue Proteins"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D011509"},"@text":"Proteoglycans"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D018091"},"@text":"Receptors, AMPA"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D000099216"},"@text":"Chondroitin Sulfate Proteoglycan 4"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C482018"},"@text":"Fras1 protein, mouse"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C491310"},"@text":"GRIP1 protein, human"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C491309"},"@text":"Grip1 protein, mouse"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D048868","MajorTopicYN":"N"},"@text":"Adaptor Proteins, Signal Transducing"}},{"DescriptorName":{"@attributes":{"UI":"D000818","MajorTopicYN":"N"},"@text":"Animals"}},{"DescriptorName":{"@attributes":{"UI":"D000941","MajorTopicYN":"N"},"@text":"Antigens"},"QualifierName":[{"@attributes":{"UI":"Q000096","MajorTopicYN":"N"},"@text":"biosynthesis"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D002352","MajorTopicYN":"N"},"@text":"Carrier Proteins"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"},{"@attributes":{"UI":"Q000502","MajorTopicYN":"N"},"@text":"physiology"}]},{"DescriptorName":{"@attributes":{"UI":"D030321","MajorTopicYN":"N"},"@text":"Denys-Drash Syndrome"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D004195","MajorTopicYN":"N"},"@text":"Disease Models, Animal"}},{"DescriptorName":{"@attributes":{"UI":"D004622","MajorTopicYN":"N"},"@text":"Embryo, Mammalian"},"QualifierName":[{"@attributes":{"UI":"Q000002","MajorTopicYN":"N"},"@text":"abnormalities"}]},{"DescriptorName":{"@attributes":{"UI":"D016326","MajorTopicYN":"N"},"@text":"Extracellular Matrix Proteins"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"},{"@attributes":{"UI":"Q000502","MajorTopicYN":"N"},"@text":"physiology"}]},{"DescriptorName":{"@attributes":{"UI":"D005455","MajorTopicYN":"N"},"@text":"Fluorescent Antibody Technique"}},{"DescriptorName":{"@attributes":{"UI":"D007668","MajorTopicYN":"N"},"@text":"Kidney"},"QualifierName":[{"@attributes":{"UI":"Q000002","MajorTopicYN":"N"},"@text":"abnormalities"}]},{"DescriptorName":{"@attributes":{"UI":"D051379","MajorTopicYN":"N"},"@text":"Mice"}},{"DescriptorName":{"@attributes":{"UI":"D009419","MajorTopicYN":"N"},"@text":"Nerve Tissue Proteins"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"},{"@attributes":{"UI":"Q000502","MajorTopicYN":"N"},"@text":"physiology"}]},{"DescriptorName":{"@attributes":{"UI":"D017434","MajorTopicYN":"N"},"@text":"Protein Structure, Tertiary"}},{"DescriptorName":{"@attributes":{"UI":"D011509","MajorTopicYN":"N"},"@text":"Proteoglycans"},"QualifierName":[{"@attributes":{"UI":"Q000096","MajorTopicYN":"N"},"@text":"biosynthesis"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D018091","MajorTopicYN":"N"},"@text":"Receptors, AMPA"},"QualifierName":[{"@attributes":{"UI":"Q000235","MajorTopicYN":"Y"},"@text":"genetics"},{"@attributes":{"UI":"Q000502","MajorTopicYN":"N"},"@text":"physiology"}]},{"DescriptorName":{"@attributes":{"UI":"D012867","MajorTopicYN":"N"},"@text":"Skin"},"QualifierName":[{"@attributes":{"UI":"Q000196","MajorTopicYN":"N"},"@text":"embryology"},{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D000099216","MajorTopicYN":"N"},"@text":"Chondroitin Sulfate Proteoglycan 4"}}]}},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2003","Month":"10","Day":"24"},{"@attributes":{"PubStatus":"accepted"},"Year":"2003","Month":"12","Day":"18"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2004","Month":"1","Day":"20","Hour":"5","Minute":"0"},{"@attributes":{"PubStatus":"medline"},"Year":"2004","Month":"3","Day":"3","Hour":"5","Minute":"0"},{"@attributes":{"PubStatus":"entrez"},"Year":"2004","Month":"1","Day":"20","Hour":"5","Minute":"0"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"14730302"},{"@attributes":{"IdType":"doi"},"@text":"10.1038\/ng1292"},{"@attributes":{"IdType":"pii"},"@text":"ng1292"}]}}}}