{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:02:29Z","timestamp":1793242949664,"version":"4.5.0"},"reference-count":70,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,17]],"date-time":"2013-08-17T00:00:00Z","timestamp":1376697600000},"content-version":"vor","delay-in-days":1081,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.ajhg.2010.07.012","type":"journal-article","created":{"date-parts":[[2010,8,20]],"date-time":"2010-08-20T06:27:57Z","timestamp":1282285677000},"page":"354-364","source":"Crossref","is-referenced-by-count":137,"title":["Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria"],"prefix":"10.1016","volume":"87","author":[{"given":"Mary C.","family":"O'Driscoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B.","family":"Daly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill E.","family":"Urquhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme C.M.","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela T.","family":"Pilz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knut","family":"Brockmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriel","family":"McEntagart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada","family":"Abdel-Salam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole I.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger L.","family":"Ladda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Sell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"D'Arrigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waney","family":"Squier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Livingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanick J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2010.07.012_bib1","doi-asserted-by":"crossref","first-page":"3173","DOI":"10.1002\/ajmg.a.32614","article-title":"Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct \u201cpseudo-TORCH\u201d phenotype","volume":"146A","author":"Briggs","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib2","doi-asserted-by":"crossref","first-page":"2929","DOI":"10.1002\/ajmg.a.32549","article-title":"Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome","volume":"146A","author":"Abdel-Salam","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib3","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1002\/ajmg.a.32894","article-title":"Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes","volume":"149A","author":"Abdel-Salam","year":"2009","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib4","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1542\/peds.99.3.409","article-title":"Neuroradiographic findings in the newborn period and long-term outcome in children with symptomatic congenital cytomegalovirus infection","volume":"99","author":"Boppana","year":"1997","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2010.07.012_bib5","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1067\/mpd.2001.112061","article-title":"Early predictors of neurodevelopmental outcome in symptomatic congenital cytomegalovirus infection","volume":"138","author":"Noyola","year":"2001","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ajhg.2010.07.012_bib6","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1136\/jmg.2004.023952","article-title":"Genetics of the polymicrogyria syndromes","volume":"42","author":"Jansen","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib7","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1002\/ajmg.a.32293","article-title":"Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2","volume":"146A","author":"Dobyns","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib8","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1002\/ajmg.a.31443","article-title":"Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation","volume":"140","author":"Robin","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib9","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1093\/hmg\/ddl035","article-title":"SRPX2 mutations in disorders of language cortex and cognition","volume":"15","author":"Roll","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib10","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/ng1993","article-title":"Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis","volume":"39","author":"Baala","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib11","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1212\/WNL.0b013e3181b8799a","article-title":"Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations","volume":"73","author":"Passemard","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2010.07.012_bib12","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ana.20422","article-title":"Distinguishing the four genetic causes of Jouberts syndrome-related disorders","volume":"57","author":"Valente","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib13","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1002\/ana.10576","article-title":"Polymicrogyria and absence of pineal gland due to PAX6 mutation","volume":"53","author":"Mitchell","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib14","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1086\/431244","article-title":"Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems","volume":"77","author":"Brooks","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib15","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1002\/ajmg.a.31784","article-title":"CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene","volume":"143A","author":"Keren","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib16","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.a.30060","article-title":"MICRO syndrome: An entity distinct from COFS syndrome","volume":"128A","author":"Graham","year":"2004","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2010.07.012_bib17","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s00401-005-1059-8","article-title":"The cerebral cortex malformation in thanatophoric dysplasia: Neuropathology and pathogenesis","volume":"110","author":"Hevner","year":"2005","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib18","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1055\/s-2002-23598","article-title":"MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings","volume":"33","author":"Geerdink","year":"2002","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ajhg.2010.07.012_bib19","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.ajhg.2009.10.007","article-title":"Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia","volume":"85","author":"Abdollahi","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib20","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/BF00688066","article-title":"Migration of neuroblasts through partial necrosis of the cerebral cortex in newborn rats-contribution to the problems of morphological development and developmental period of cerebral microgyria. Histological and autoradiographical study","volume":"38","author":"Dvor\u00e1k","year":"1977","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib21","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/BF00689830","article-title":"A Golgi analysis of unlayered polymicrogyria","volume":"65","author":"Ferrer","year":"1984","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib22","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/BF01236058","article-title":"Unlayered polymicrogyria: Structural and developmental aspects","volume":"184","author":"Ferrer","year":"1991","journal-title":"Anat. Embryol. (Berl.)"},{"key":"10.1016\/j.ajhg.2010.07.012_bib23","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00293950","article-title":"Repair and reconstruction of the cortical plate following closed cryogenic injury to the neonatal rat cerebrum","volume":"82","author":"Suzuki","year":"1991","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib24","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF00687825","article-title":"Parabiotic twin syndrome with topical isocortical disruption and gastroschisis","volume":"67","author":"Barth","year":"1985","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib25","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1002\/ana.410200513","article-title":"Developmental Foix-Chavany-Marie syndrome in identical twins","volume":"20","author":"Graff-Radford","year":"1986","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib26","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1111\/j.1469-8749.1996.tb12088.x","article-title":"Congenital bilateral perisylvian syndrome in a monozygotic twin with intra-uterine death of the co-twin","volume":"38","author":"Van Bogaert","year":"1996","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib27","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1097\/00005072-197407000-00004","article-title":"Cerebral microgyria in a 27-week fetus: An architectonic and\u00a0topographic analysis","volume":"33","author":"Richman","year":"1974","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib28","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/BF00685371","article-title":"The cellular pathology of microgyria. A Golgi analysis","volume":"36","author":"Williams","year":"1976","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib29","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1136\/jnnp.56.3.314","article-title":"Localised neuronal migration disorder and intractable epilepsy: A prenatal vascular aetiology","volume":"56","author":"Reutens","year":"1993","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ajhg.2010.07.012_bib30","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1007\/s00381-007-0474-7","article-title":"Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: A review","volume":"23","author":"Raybaud","year":"2007","journal-title":"Childs Nerv. Syst."},{"key":"10.1016\/j.ajhg.2010.07.012_bib31","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00685375","article-title":"Pathogenesis of four-layered microgyric cortex in man","volume":"57","author":"McBride","year":"1982","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib32","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1083\/jcb.123.6.1777","article-title":"Occludin: A novel integral membrane protein localizing at tight junctions","volume":"123","author":"Furuse","year":"1993","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib33","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00418-004-0665-1","article-title":"Immunolocalization of tight junction proteins in the adult and developing human brain","volume":"122","author":"Virgintino","year":"2004","journal-title":"Histochem. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib34","doi-asserted-by":"crossref","first-page":"4131","DOI":"10.1091\/mbc.11.12.4131","article-title":"Complex phenotype of mice lacking occludin, a component of tight junction strands","volume":"11","author":"Saitou","year":"2000","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib35","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1242\/jcs.110.14.1603","article-title":"Occludin as a possible determinant of tight junction permeability in endothelial cells","volume":"110","author":"Hirase","year":"1997","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ajhg.2010.07.012_bib36","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/jcp.21508","article-title":"Peripheral nerve pericytes originating from the blood-nerve barrier expresses tight junctional molecules and transporters as barrier-forming cells","volume":"217","author":"Shimizu","year":"2008","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib37","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/humu.20383","article-title":"Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families","volume":"27","author":"Carr","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2010.07.012_bib38","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1093\/nar\/gkh340","article-title":"MUSCLE: Multiple sequence alignment with high accuracy and high throughput","volume":"32","author":"Edgar","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2010.07.012_bib39","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0968-0004(02)02229-6","article-title":"MARVEL: A conserved domain involved in membrane apposition events","volume":"27","author":"S\u00e1nchez-Pulido","year":"2002","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2010.07.012_bib40","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/1471-2121-10-95","article-title":"Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family","volume":"10","author":"Steed","year":"2009","journal-title":"BMC Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib41","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1091\/mbc.E09-08-0734","article-title":"Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions","volume":"21","author":"Raleigh","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib42","doi-asserted-by":"crossref","first-page":"3171","DOI":"10.1242\/jcs.115.15.3171","article-title":"Occludin TM4(-): An isoform of the tight junction protein present in primates lacking the fourth transmembrane domain","volume":"115","author":"Ghassemifar","year":"2002","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ajhg.2010.07.012_bib43","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1111\/j.1742-4658.2008.06467.x","article-title":"A novel splice variant of occludin deleted in exon 9 and its role in cell apoptosis and invasion","volume":"275","author":"Gu","year":"2008","journal-title":"FEBS J."},{"key":"10.1016\/j.ajhg.2010.07.012_bib44","doi-asserted-by":"crossref","first-page":"6987","DOI":"10.1128\/JVI.00196-10","article-title":"Splicing diversity of the human OCLN gene and its biological significance for hepatitis C virus entry","volume":"84","author":"Kohaar","year":"2010","journal-title":"J. Virol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib45","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0006-291X(02)02487-7","article-title":"Gene expression of the tight junction protein occludin includes differential splicing and alternative promoter usage","volume":"298","author":"Mankertz","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2010.07.012_bib46","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1091\/mbc.11.2.627","article-title":"Occludin 1B, a variant of the tight junction protein occludin","volume":"11","author":"Muresan","year":"2000","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib47","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1083\/jcb.138.4.891","article-title":"COOH terminus of occludin is required for tight junction barrier function in early Xenopus embryos","volume":"138","author":"Chen","year":"1997","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib48","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1083\/jcb.141.2.397","article-title":"Occludin-deficient embryonic stem cells can differentiate into polarized epithelial cells bearing tight junctions","volume":"141","author":"Saitou","year":"1998","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib49","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s00418-008-0424-9","article-title":"Tight junctions and the modulation of barrier function in disease","volume":"130","author":"F\u00f6rster","year":"2008","journal-title":"Histochem. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib50","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1083\/jcb.143.2.391","article-title":"A\u00a0single gene product, claudin-1 or -2, reconstitutes tight junction strands and recruits occludin in fibroblasts","volume":"143","author":"Furuse","year":"1998","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib51","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1083\/jcb.134.4.1031","article-title":"Functional dissociation of paracellular permeability and transepithelial electrical resistance and disruption of the apical-basolateral intramembrane diffusion barrier by expression of a mutant tight junction membrane protein","volume":"134","author":"Balda","year":"1996","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib52","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1749-6632.2009.04054.x","article-title":"Occludin phosphorylation in regulation of epithelial tight junctions","volume":"1165","author":"Rao","year":"2009","journal-title":"Ann. N Y Acad. Sci."},{"key":"10.1016\/j.ajhg.2010.07.012_bib53","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1006\/dbio.1996.0336","article-title":"Loss of occludin and functional tight junctions, but not ZO-1, during neural tube closure\u2014remodeling of the neuroepithelium prior to neurogenesis","volume":"180","author":"Aaku-Saraste","year":"1996","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib54","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1159\/000147748","article-title":"An overview of epithelio-mesenchymal transformation","volume":"154","author":"Hay","year":"1995","journal-title":"Acta Anat. (Basel)"},{"key":"10.1016\/j.ajhg.2010.07.012_bib55","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1203\/01.PDR.0000180535.14093.FB","article-title":"Development of tight junction molecules in blood vessels of germinal matrix, cerebral cortex, and white matter","volume":"58","author":"Ballabh","year":"2005","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ajhg.2010.07.012_bib56","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/S0092-8674(00)81553-6","article-title":"CNS myelin and sertoli cell tight junction strands are absent in Osp\/claudin-11 null mice","volume":"99","author":"Gow","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib57","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1083\/jcb.200302070","article-title":"Size-selective loosening of the blood-brain barrier in claudin-5-deficient mice","volume":"161","author":"Nitta","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib58","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.nbd.2009.07.030","article-title":"Structure and function of the blood-brain barrier","volume":"37","author":"Abbott","year":"2010","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2010.07.012_bib59","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/med.20064","article-title":"Neutrophils and the blood-brain barrier dysfunction after trauma","volume":"27","author":"Scholz","year":"2007","journal-title":"Med. Res. Rev."},{"key":"10.1016\/j.ajhg.2010.07.012_bib60","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10456-006-9061-x","article-title":"An intimate interplay between precocious, migrating pericytes and endothelial cells governs human fetal brain angiogenesis","volume":"10","author":"Virgintino","year":"2007","journal-title":"Angiogenesis"},{"key":"10.1016\/j.ajhg.2010.07.012_bib61","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1161\/01.RES.0000163634.51301.0d","article-title":"Angiogenesis and pericytes in the initiation of ectopic calcification","volume":"96","author":"Collett","year":"2005","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2010.07.012_bib62","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0092-8674(00)80898-3","article-title":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome","volume":"92","author":"des Portes","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib63","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0092-8674(00)80899-5","article-title":"Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein","volume":"92","author":"Gleeson","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib64","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/ng.380","article-title":"Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria","volume":"41","author":"Jaglin","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2010.07.012_bib65","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.cell.2006.12.017","article-title":"Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans","volume":"128","author":"Keays","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib66","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1471-2121-7-12","article-title":"Microtubules regulate disassembly of epithelial apical junctions","volume":"7","author":"Ivanov","year":"2006","journal-title":"BMC Cell Biol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib67","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1096\/fj.06-7786com","article-title":"Beta-tubulin cofactor D and ARL2 take part in apical junctional complex disassembly and abrogate epithelial structure","volume":"22","author":"Shultz","year":"2008","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2010.07.012_bib68","doi-asserted-by":"crossref","first-page":"C1717","DOI":"10.1152\/ajpcell.00309.2007","article-title":"Tight junction targeting and intracellular trafficking of occludin in polarized epithelial cells","volume":"293","author":"Subramanian","year":"2007","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.ajhg.2010.07.012_bib69","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.devcel.2009.12.008","article-title":"The tight junction protein, occludin, regulates the directional migration of epithelial cells","volume":"18","author":"Du","year":"2010","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2010.07.012_bib70","series-title":"An International System for Human Cytogenetic Nomenclature","author":"Shaffer","year":"2009"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971000368X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971000368X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,11,6]],"date-time":"2021-11-06T13:56:58Z","timestamp":1636207018000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292971000368X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":70,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S000292971000368X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2010.07.012","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.5982956.5987054","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}