Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Morimoto, Marie ^a,b   Yu, Zhongxin ^c   Stenzel, Peter ^d   Clewing, J Marietta ^e   Najafian, Behzad ^f   Mayfield, Christy ^g   Hendson, Glenda ^h   Weinkauf, Justin G ⁱ   Gormley, Andrew K ^c   Parham, David M ^c   Ponniah, Umakumaran ^c   André, Jean Luc ^j   Asakura, Yumi ^k   Basiratnia, Mitra ^l   Bogdanović, Radovan ^m   Bokenkamp, Arend ⁿ   Bonneau, Dominique ^o   Buck, Anna ^p   Charrow, Joel ^q   Cochat, Pierre ^r   Cordeiro, Isabel ^s   Deschenes, Georges ^t   Fenkçi, M Semin ^u   Frange, Pierre ^v   Fründ, Stefan ^w   Fryssira, Helen ^x   Guillen Navarro, Encarna ^y   Keller, Kory ^z   Kirmani, Salman ^aa   Kobelka, Christine ^ab   Lamfers, Petra ^ac   Levtchenko, Elena ^ad   Lewis, David B ^ae   Massella, Laura ^af   McLeod, D Ross ^ag   Milford, David V ^ah   Nobili, François ^ai   Saraiva, Jorge M ^aj   Semerci, C Nur ^ak   Shoemaker, Lawrence ^al   Stajić, Nataša ^m   Stein, Anja ^am   Taha, Doris ^an   Wand, Dorothea ^ao   Zonana, Jonathan ^z   Lücke, Thomas ^ap   Boerkoel, Cornelius F ^a,b   more..

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^b Rare Disease Foundation   (Canada)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g Warren Clinic   (United States)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

ⁱ UNIVERSITY OF ALBERTA   (Canada)

^j HÔPITAL D ENFANTS   (France)

^k KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^l SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^m Institute of Mother and Child Healthcare of Serbia   (Serbia)

ⁿ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^o ANGERS UNIVERSITY HOSPITAL   (France)

^p HANNOVER MEDICAL SCHOOL   (Germany)

^q CHILDREN'S MEMORIAL HOSPITAL   (United States)

^r UNIVERSITÉ DE LYON   (France)

^s HOSPITAL DE SANTA MARIA   (Portugal)

^t HÔPITAL ROBERT DEBRÉ   (France)

^u Cerrahi Hospital   (Turkey)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^x UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^y HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^z OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^aa MAYO CLINIC   (United States)

^ab KAISER PERMANENTE   (United States)

^ac Mercy Pediatrics and Adolescent Clinic   (United States)

^ad UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ae STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^af BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^ag ALBERTA CHILDREN'S HOSPITAL   (Canada)

^ah BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^ai HÔPITAL SAINT JACQUES   (France)

^aj CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^ak PAMUKKALE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^al University of Louisville School of Medicine   (United States)

^am UNIVERSITY HOSPITAL ESSEN   (Germany)

^an Cape Breton Regional Hospital   (Canada)

^ao MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^ap RUHR UNIVERSITY BOCHUM   (Germany)

more..

Author keywords

Elastin; Pulmonary emphysema; Schimke immuno osseous dysplasia; SMARCAL1; Vascular disease

Indexed keywords

BINDING PROTEIN; ELASTIN; ELASTIN BINDING PROTEIN; GENOMIC DNA; MESSENGER RNA; NUCLEAR PROTEIN; OSTEOPONTIN; SWI SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A LIKE 1; UNCLASSIFIED DRUG;

ADULT; AORTA; ARTERIOSCLEROSIS; ARTERY; ARTERY INTIMA PROLIFERATION; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CHILD; EMPHYSEMA; FEMALE; FIBROBLAST; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; LUNG DISEASE; LUNG PARENCHYMA; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MYOFIBROBLAST; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SMOOTH MUSCLE FIBER; UMBILICAL CORD; VASCULAR SMOOTH MUSCLE;

ADULT; ARTERIOSCLEROSIS; AUTOPSY; CHILD; CHILD, PRESCHOOL; DNA HELICASES; EMPHYSEMA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; NEPHROTIC SYNDROME; OSTEOCHONDRODYSPLASIAS; PULMONARY EMBOLISM;

EID: 84866491739     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-70     Document Type: Article

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