Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

Journal of the American College of Cardiology

Volumn 65, Issue 13, 2015, Pages 1324-1336

  Bertoli Avella, Aida M ^a,b   Gillis, Elisabeth ^b   Morisaki, Hiroko ^c   Verhagen, Judith M A ^a   De Graaf, Bianca M ^a   Van De Beek, Gerarda ^b   Gallo, Elena ^d   Kruithof, Boudewijn P T ^e   Venselaar, Hanka ^f,g   Myers, Loretha A ^d   Laga, Steven ^b   Doyle, Alexander J ^d,h,i   Oswald, Gretchen ^d,h   Van Cappellen, Gert W A ^a   Yamanaka, Itaru ^c   Van Der Helm, Robert M ^a   Beverloo, Berna ^a   De Klein, Annelies ^a   Pardo, Luba ^a   Lammens, Martin ^b   Evers, Christina ^j   Devriendt, Koenraad ^k   Dumoulein, Michiel ^l   Timmermans, Janneke ^g   Bruggenwirth, Hennie T ^a   Verheijen, Frans ^a   Rodrigus, Inez ^b   Baynam, Gareth ^m,n   Kempers, Marlies ^g   Saenen, Johan ^b   Van Craenenbroeck, Emeline M ^b   Minatoya, Kenji ^c   Matsukawa, Ritsu ^o   Tsukube, Takuro ^o   Kubo, Noriaki ^p   Hofstra, Robert ^a   Goumans, Marie Jose ^e   Bekkers, Jos A ^a   Roos Hesselink, Jolien W ^a   Van De Laar, Ingrid M B H ^a   Dietz, Harry C ^d,h   Van Laer, Lut ^b   Morisaki, Takayuki ^c,q   Wessels, Marja W ^a   Loeys, Bart L ^b   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^j UNIVERSITY OF HEIDELBERG   (Germany)

^k CENTER FOR HUMAN GENETICS   (Belgium)

^l AZ GROENINGE   (Belgium)

^m Genetic Services of Western Australia   (Australia)

ⁿ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^o Japanese Red Cross Kobe Hospital   (Japan)

^p Urakawa Redcross Hospital   (Japan)

^q OSAKA UNIVERSITY   (Japan)

more..

Author keywords

Gene; Loeys Dietz syndrome; TGF pathway; Thoracic aortic aneurysm

Indexed keywords

RECOMBINANT TRANSFORMING GROWTH FACTOR BETA1; RECOMBINANT TRANSFORMING GROWTH FACTOR BETA2; RECOMBINANT TRANSFORMING GROWTH FACTOR BETA3; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA3;

ABDOMINAL AORTA ANEURYSM; ACTA2 GENE; ADULT; AGED; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; BIFID UVULA; BONE DISEASE; CARDIOVASCULAR SYSTEM EXAMINATION; CERVICAL SPINE INJURY; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CLUBFOOT; COL3A1 GENE; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER MODEL; CONTROLLED STUDY; EFEMP2 GENE; ELECTROCARDIOGRAPHY; EXOME; FBN1 GENE; FLNA GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; MIDDLE AGED; MISSENSE MUTATION; MITRAL VALVE DISEASE; MUTATIONAL ANALYSIS; MYH11 GENE; MYLK GENE; NOTCH1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PRKG1 GENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; SK1 GENE; SKELETAL OVERGROWTH; SLC2A10 GENE; SMAD3 GENE; SYNDROMIC AORTIC ANEURYSM; TGFB2 GENE; TGFB3 GENE; TGFBR1 GENE; TGFBR2 GENE; THORACIC AORTIC ANEURYSM; TRANSTHORACIC ECHOCARDIOGRAPHY; UPREGULATION; VELOCARDIOFACIAL SYNDROME; DISSECTING ANEURYSM; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; MUTATION; PEDIGREE;

ADULT; AGED; ANEURYSM, DISSECTING; AORTIC ANEURYSM; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA3;

EID: 84933037220     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2015.01.040     Document Type: Article

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