Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Nature Genetics

Volumn 43, Issue 2, 2011, Pages 121-126

  Van De Laar, Ingrid M B H ^a   Oldenburg, Rogier A ^a   Pals, Gerard ^b   Roos Hesselink, Jolien W ^a   De Graaf, Bianca M ^a   Verhagen, Judith M A ^a   Hoedemaekers, Yvonne M ^a   Willemsen, Rob ^a   Severijnen, Lies Anne ^a   Venselaar, Hanka ^c,d   Vriend, Gert ^c,d   Pattynama, Peter M ^a   Collée, Margriet ^a   Majoor Krakauer, Danielle ^a   Poldermans, Don ^a   Frohn Mulder, Ingrid M E ^a   Micha, Dimitra ^b   Timmermans, Janneke ^d   Hilhorst Hofstee, Yvonne ^e   Bierma Zeinstra, Sita M ^a   Willems, Patrick J ^f   Kros, Johan M ^a   Oei, Edwin H G ^a   Oostra, Ben A ^a   Wessels, Marja W ^a   Bertoli Avella, Aida M ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Genetic Diagnostics Belgium   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONNECTIVE TISSUE GROWTH FACTOR; MESSENGER RNA; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD6 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA1;

ANEURYSM OSTEOARTHRITIS SYNDROME; AORTA DISSECTION; CHROMOSOME 15Q; CLINICAL FEATURE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; REVIEW; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL RATE; THORACIC AORTA ANEURYSM;

AGE OF ONSET; AORTA, THORACIC; AORTIC ANEURYSM; CHROMOSOMES, HUMAN, PAIR 15; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; OSTEOARTHRITIS; SIGNAL TRANSDUCTION; SMAD3 PROTEIN; SYNDROME; TRANSFORMING GROWTH FACTOR BETA;

EID: 79251602475     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.744     Document Type: Review

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