2003
DOI: 10.1038/sj.ejhg.5201034
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Mutation analysis of the Smad3 gene in human osteoarthritis

Abstract: Osteoarthritis (OA) is the most common joint disease worldwide. Recent studies have shown that targeted disruption of Smad3 in mouse results in OA. To reveal the possible association between the Smad3 gene mutation and human OA, we employed polymerase chain reaction-single strand conformation polymorphism and sequencing to screen mutations in all nine exons of the Smad3 gene in 32 patients with knee OA and 50 patients with only bone fracture. A missense mutation of the Smad3 gene was found in one patient. The … Show more

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Cited by 45 publications
(37 citation statements)
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References 14 publications
(10 reference statements)
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“…This is corroborated in Smad3 knock-out mice, which show premature chondrocyte maturation and subsequent premature osteoarthritis 25 27. A direct role for SMAD3 in osteoarthritis is further supported by the identification of a SMAD3 mutation in a patient with knee osteoarthritis,18 the recent association between a single-nucleotide polymorphism in intron 1 of SMAD3 and the risk of both hip and knee osteoarthritis,28 and several in vitro studies 29…”
Section: Discussionmentioning
confidence: 81%
“…This is corroborated in Smad3 knock-out mice, which show premature chondrocyte maturation and subsequent premature osteoarthritis 25 27. A direct role for SMAD3 in osteoarthritis is further supported by the identification of a SMAD3 mutation in a patient with knee osteoarthritis,18 the recent association between a single-nucleotide polymorphism in intron 1 of SMAD3 and the risk of both hip and knee osteoarthritis,28 and several in vitro studies 29…”
Section: Discussionmentioning
confidence: 81%
“…Yaş lan ma, ge ne tik, hor mo nal ve me ka nik fak tör ler has ta lı ğın iler le me sin de rol alan te mel un sur lar dır. 1 Araş tır ma lar ge ne tik et ken lerin, os te o ar trit ge li şi mi ne kat kı sı nın faz la ol du ğu nu gös ter mek te dir. Fark lı aday gen ler le ya pı lan ça lış -ma lar da ise bu gen ler den bir kıs mı nın os te o ar trit ile iliş ki li ol du ğu tes pit edil miş tir.…”
Section: Osteoartrit Tanısı Konmuş Hasta Bireylerdeunclassified
“…10 Os te oar trit li has ta lar la ya pı lan mu tas yon ça lış ma sın da bir has ta da Smad3 gen mu tas yo nu tes pit edil miş ve Smad3 ge nin de ki mu tas yo nun in san da OA 'e yatkın lık oluş tu ra bi le cek ola sı bir fak tör ola bi le ce ği bil di ril miş tir. 1 Bu ça lış ma nın te mel ama cı, Smad3 ge nin de ki nük le o tid de ği şim le ri nin OA pa to ge ne zi ile iliş kisi ni araş tır mak ve bu de ği şim le rin Türk po pü las yonun da ki fre kans la rı nı or ta ya koy mak tır.…”
Section: Osteoartrit Tanısı Konmuş Hasta Bireylerdeunclassified
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