Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Human Molecular Genetics

Volumn 13, Issue 20, 2004, Pages 2493-2503

  Navarro, Claire L ^a   De Sandre Giovannoli, Annachiara ^a,b   Bernard, Rafaëlle ^a,b   Boccaccio, Irène ^a   Boyer, Amandine ^b   Geneviève, David ^d   Hadj Rabia, Smail ^d   Gaudy Marqueste, Caroline ^b   Smitt, Henk Sillevis ^e   Vabres, Pierre ^f   Faivre, Laurence ^g   Verloes, Alain ^h   Van Essen, Ton ⁱ   Flori, Elisabeth ^j   Hennekam, Raoul ^e   Beemer, Frits A ^k   Laurent, Nicole ^g   Le Merrer, Martine ^d   Cau, Pierre ^a,c   Lévy, Nicolas ^a,b  

^a INSERM   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL DE LA CONCEPTION   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f POITIERS UNIVERSITY HOSPITAL   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j HÔPITAL DE HAUTEPIERRE   (France)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; MESSENGER RNA; METALLOPROTEINASE;

ARTICLE; BONE DYSPLASIA; BONE MINERALIZATION; CELL FUNCTION; CELL NUCLEUS; CELL NUCLEUS MEMBRANE; CLAVICLE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DEATH; DISEASE COURSE; EXON; FACE MALFORMATION; FEMALE; FETUS; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERKERATOSIS; INFANT; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; LUNG HYPOPLASIA; MICROGNATHIA; NUCLEAR LAMINA; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; SKIN BLOOD VESSEL; SKIN DISEASE; SKULL DEFECT; STOP CODON;

BONE AND BONES; CELL NUCLEUS; EXONS; FETUS; FIBROBLASTS; HUMANS; INFANT, NEWBORN; LAMIN TYPE A; LIPOPROTEINS; MEMBRANE PROTEINS; METALLOPROTEASES; MUTATION; NUCLEAR LAMINA; RNA SPLICING; SKIN; SKIN ABNORMALITIES; SYNDROME;

INSERTION SEQUENCES;

EID: 19544374472     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh265     Document Type: Article

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