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

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

by André, Jean-Luc , Fründ, Stefan , Fryssira, Helen , Lücke, Thomas , Asakura, Yumi , Morimoto, Marie , Stenzel, Peter , Saraiva, Jorge M , Charrow, Joel , Taha, Doris , Stein, Anja , Basiratnia, Mitra , Guillen-Navarro, Encarna , Cochat, Pierre , McLeod, D R , Clewing, J M , Hendson, Glenda , Wand, Dorothea , Boerkoel, Cornelius F , Mayfield, Christy , Lamfers, Petra , Zonana, Jonathan , Deschenes, Georges , Keller, Kory , Semerci, C N , Yu, Zhongxin , Stajić, Nataša , Parham, David M , Massella, Laura , Weinkauf, Justin G , Ponniah, Umakumaran , Shoemaker, Lawrence , Bonneau, Dominique , Cordeiro, Isabel , Frange, Pierre , Levtchenko, Elena , Milford, David V , Buck, Anna , Lewis, David B , Bokenkamp, Arend , Kirmani, Salman , Nobili, François , Kobelka, Christine , Najafian, Behzad , Gormley, Andrew K , Fenkçi, M S , Bogdanović, Radovan

in adult / aorta / Arteriosclerosis / artery / artery intima proliferation / Autopsy / autosomal recessive disorder / binding protein / CELL-PROLIFERATION / Child / Child, Preschool / COSTELLO-SYNDROME / DEFICIENCY / DNA Helicases / elastin / ELASTIN-BINDING-PROTEIN / emphysema / EXPRESSION / female / fibroblast / gene expression profiling / gene expression regulation / gene mutation / gene sequence / GENETIC-DISEASES / Genetics & Heredity / Genetics(clinical) / genomic DNA / histopathology / human / human cell / human tissue / Humans / hyperplasia / Immunohistochemistry / Immunologic Deficiency Syndromes / IMMUNOOSSEOUS DYSPLASIA / Life Sciences & Biomedicine / lung disease / lung parenchyma / major clinical study / Male / medical record review / Medicine / Medicine(all) / Medicine, Research & Experimental / Medizin / messenger RNA / MOUSE MODELS / MUTATIONS / myofibroblast / Nephrotic Syndrome / nuclear protein / Osteochondrodysplasias / osteopontin / Pharmacology (medical) / preschool child / Primary Immunodeficiency Diseases / protein expression / protein localization / Pulmonary Embolism / Pulmonary emphysema / R / Research & Experimental Medicine / Schimke immuno-osseous dysplasia / Schimke immunoosseous dysplasia / school child / Science & Technology / single nucleotide polymorphism / SMARCAL1 / smooth muscle fiber / SUPRAVALVULAR AORTIC-STENOSIS / SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1 / umbilical cord / unclassified drug / Vascular disease / vascular smooth muscle

2012

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

by André, Jean-Luc , Fründ, Stefan , Fryssira, Helen , Lücke, Thomas , Asakura, Yumi , Morimoto, Marie , Stenzel, Peter , Saraiva, Jorge M , Charrow, Joel , Taha, Doris , Stein, Anja , Basiratnia, Mitra , Guillen-Navarro, Encarna , Cochat, Pierre , McLeod, D R , Clewing, J M , Hendson, Glenda , Wand, Dorothea , Boerkoel, Cornelius F , Mayfield, Christy , Lamfers, Petra , Zonana, Jonathan , Deschenes, Georges , Keller, Kory , Semerci, C N , Yu, Zhongxin , Stajić, Nataša , Parham, David M , Massella, Laura , Weinkauf, Justin G , Ponniah, Umakumaran , Shoemaker, Lawrence , Bonneau, Dominique , Cordeiro, Isabel , Frange, Pierre , Levtchenko, Elena , Milford, David V , Buck, Anna , Lewis, David B , Bokenkamp, Arend , Kirmani, Salman , Nobili, François , Kobelka, Christine , Najafian, Behzad , Gormley, Andrew K , Fenkçi, M S , Bogdanović, Radovan

in adult / aorta / Arteriosclerosis / artery / artery intima proliferation / Autopsy / autosomal recessive disorder / binding protein / CELL-PROLIFERATION / Child / Child, Preschool / COSTELLO-SYNDROME / DEFICIENCY / DNA Helicases / elastin / ELASTIN-BINDING-PROTEIN / emphysema / EXPRESSION / female / fibroblast / gene expression profiling / gene expression regulation / gene mutation / gene sequence / GENETIC-DISEASES / Genetics & Heredity / Genetics(clinical) / genomic DNA / histopathology / human / human cell / human tissue / Humans / hyperplasia / Immunohistochemistry / Immunologic Deficiency Syndromes / IMMUNOOSSEOUS DYSPLASIA / Life Sciences & Biomedicine / lung disease / lung parenchyma / major clinical study / Male / medical record review / Medicine / Medicine(all) / Medicine, Research & Experimental / Medizin / messenger RNA / MOUSE MODELS / MUTATIONS / myofibroblast / Nephrotic Syndrome / nuclear protein / Osteochondrodysplasias / osteopontin / Pharmacology (medical) / preschool child / Primary Immunodeficiency Diseases / protein expression / protein localization / Pulmonary Embolism / Pulmonary emphysema / R / Research & Experimental Medicine / Schimke immuno-osseous dysplasia / Schimke immunoosseous dysplasia / school child / Science & Technology / single nucleotide polymorphism / SMARCAL1 / smooth muscle fiber / SUPRAVALVULAR AORTIC-STENOSIS / SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1 / umbilical cord / unclassified drug / Vascular disease / vascular smooth muscle

2012

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

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

by André, Jean-Luc , Fründ, Stefan , Fryssira, Helen , Lücke, Thomas , Asakura, Yumi , Morimoto, Marie , Stenzel, Peter , Saraiva, Jorge M , Charrow, Joel , Taha, Doris , Stein, Anja , Basiratnia, Mitra , Guillen-Navarro, Encarna , Cochat, Pierre , McLeod, D R , Clewing, J M , Hendson, Glenda , Wand, Dorothea , Boerkoel, Cornelius F , Mayfield, Christy , Lamfers, Petra , Zonana, Jonathan , Deschenes, Georges , Keller, Kory , Semerci, C N , Yu, Zhongxin , Stajić, Nataša , Parham, David M , Massella, Laura , Weinkauf, Justin G , Ponniah, Umakumaran , Shoemaker, Lawrence , Bonneau, Dominique , Cordeiro, Isabel , Frange, Pierre , Levtchenko, Elena , Milford, David V , Buck, Anna , Lewis, David B , Bokenkamp, Arend , Kirmani, Salman , Nobili, François , Kobelka, Christine , Najafian, Behzad , Gormley, Andrew K , Fenkçi, M S , Bogdanović, Radovan

in adult / aorta / Arteriosclerosis / artery / artery intima proliferation / Autopsy / autosomal recessive disorder / binding protein / CELL-PROLIFERATION / Child / Child, Preschool / COSTELLO-SYNDROME / DEFICIENCY / DNA Helicases / elastin / ELASTIN-BINDING-PROTEIN / emphysema / EXPRESSION / female / fibroblast / gene expression profiling / gene expression regulation / gene mutation / gene sequence / GENETIC-DISEASES / Genetics & Heredity / Genetics(clinical) / genomic DNA / histopathology / human / human cell / human tissue / Humans / hyperplasia / Immunohistochemistry / Immunologic Deficiency Syndromes / IMMUNOOSSEOUS DYSPLASIA / Life Sciences & Biomedicine / lung disease / lung parenchyma / major clinical study / Male / medical record review / Medicine / Medicine(all) / Medicine, Research & Experimental / Medizin / messenger RNA / MOUSE MODELS / MUTATIONS / myofibroblast / Nephrotic Syndrome / nuclear protein / Osteochondrodysplasias / osteopontin / Pharmacology (medical) / preschool child / Primary Immunodeficiency Diseases / protein expression / protein localization / Pulmonary Embolism / Pulmonary emphysema / R / Research & Experimental Medicine / Schimke immuno-osseous dysplasia / Schimke immunoosseous dysplasia / school child / Science & Technology / single nucleotide polymorphism / SMARCAL1 / smooth muscle fiber / SUPRAVALVULAR AORTIC-STENOSIS / SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1 / umbilical cord / unclassified drug / Vascular disease / vascular smooth muscle

2012

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

Journal Article

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

André, Jean-Luc,

Fründ, Stefan,

Fryssira, Helen,

Lücke, Thomas,

Asakura, Yumi,

Morimoto, Marie,

Stenzel, Peter,

Saraiva, Jorge M,

Charrow, Joel,

Taha, Doris,

Stein, Anja,

Basiratnia, Mitra,

Guillen-Navarro, Encarna,

Cochat, Pierre,

McLeod, D R,

Clewing, J M,

Hendson, Glenda,

Wand, Dorothea,

Boerkoel, Cornelius F,

Mayfield, Christy,

Lamfers, Petra,

Zonana, Jonathan,

Deschenes, Georges,

Keller, Kory,

Semerci, C N,

Yu, Zhongxin,

Stajić, Nataša,

Parham, David M,

Massella, Laura,

Weinkauf, Justin G,

Ponniah, Umakumaran,

Shoemaker, Lawrence,

Bonneau, Dominique,

Cordeiro, Isabel,

Frange, Pierre,

Levtchenko, Elena,

Milford, David V,

Buck, Anna,

Lewis, David B,

Bokenkamp, Arend,

Kirmani, Salman,

Nobili, François,

Kobelka, Christine,

Najafian, Behzad,

Gormley, Andrew K,

Fenkçi, M S,

Bogdanović, Radovan

2012

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Publisher

Springer Science and Business Media LLC

Subject

/ Arteriosclerosis

/ artery intima proliferation

/ autosomal recessive disorder

/ binding protein

/ CELL-PROLIFERATION

/ Child, Preschool

/ COSTELLO-SYNDROME

/ DNA Helicases

/ ELASTIN-BINDING-PROTEIN

/ gene expression profiling

/ gene expression regulation

/ gene mutation

/ gene sequence

/ GENETIC-DISEASES

/ Genetics & Heredity

/ Genetics(clinical)

/ histopathology

/ Immunohistochemistry

/ Immunologic Deficiency Syndromes

/ IMMUNOOSSEOUS DYSPLASIA

/ Life Sciences & Biomedicine

/ lung parenchyma

/ major clinical study

/ medical record review

/ Medicine(all)

/ Medicine, Research & Experimental

/ messenger RNA

/ myofibroblast

/ Nephrotic Syndrome

/ nuclear protein

/ Osteochondrodysplasias

/ Pharmacology (medical)

/ preschool child

/ Primary Immunodeficiency Diseases

/ protein expression

/ protein localization

/ Pulmonary Embolism

/ Pulmonary emphysema

/ R

/ Research & Experimental Medicine

/ Schimke immuno-osseous dysplasia

/ Schimke immunoosseous dysplasia

/ Science & Technology

/ single nucleotide polymorphism

/ smooth muscle fiber

/ SUPRAVALVULAR AORTIC-STENOSIS

/ SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1

/ umbilical cord

/ unclassified drug

/ Vascular disease

/ vascular smooth muscle

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