Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 354-364

  O'Driscoll, Mary C ^a   Daly, Sarah B ^a   Urquhart, Jill E ^a   Black, Graeme C M ^a   Pilz, Daniela T ^b   Brockmann, Knut ^c   McEntagart, Meriel ^d   Abdel Salam, Ghada ^e   Zaki, Maha ^e   Wolf, Nicole I ^f,g   Ladda, Roger L ^h   Sell, Susan ^h   D'Arrigo, Stefano ⁱ   Squier, Waney ^j   Dobyns, William B ^k   Livingston, John H ^l   Crow, Yanick J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d ST GEORGE S HOSPITAL   (United Kingdom)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h PENN STATE CHILDREN S HOSPITAL   (United States)

ⁱ DEPARTMENT OF NEUROSURGERY   (Italy)

^j RADCLIFFE INFIRMARY   (United Kingdom)

^k UNIVERSITY OF CHICAGO   (United States)

^l LEEDS GENERAL INFIRMARY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

OCCLUDIN; MEMBRANE PROTEIN; OCLN PROTEIN, HUMAN; OCLN PROTEIN, MOUSE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BAND LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLOOD BRAIN BARRIER; BRAIN CALCIFICATION; CLINICAL ARTICLE; COPY NUMBER VARIATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GRAY MATTER; HUMAN; MICROGYRIA; MOUSE; NEUROIMAGING; NEUROLOGIC DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; ANIMAL; BRAIN CORTEX; CALCINOSIS; CEREBROSPINAL FLUID; CHROMOSOME 5; COMPLICATION; COMPUTER PROGRAM; CONSANGUINITY; CORTICAL DYSPLASIA; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; IN SITU HYBRIDIZATION; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; TIGHT JUNCTION;

ANIMALS; BASE SEQUENCE; CALCINOSIS; CEREBRAL CORTEX; CHROMOSOMES, HUMAN, PAIR 5; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALFORMATIONS OF CORTICAL DEVELOPMENT; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OCCLUDIN; SOFTWARE; TIGHT JUNCTIONS;

EID: 77956374543     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.012     Document Type: Article

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