No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation.
作者信息
Brosens L A A, van Hattem W A, Kools M C E, Ezendam C, Morsink F H, de Leng W W J, Giardiello F M, Offerhaus G J A
出版信息
Gut. 2009 Jan;58(1):154-6. doi: 10.1136/gut.2008.161232.
Abstract
摘要
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本文引用的文献
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2
Risk of colorectal cancer in juvenile polyposis.青少年息肉病患者患结直肠癌的风险。
Gut. 2007 Jul;56(7):965-7. doi: 10.1136/gut.2006.116913. Epub 2007 Feb 15.
3
Transforming growth factor beta receptor type II inactivation induces the malignant transformation of intestinal neoplasms initiated by Apc mutation.转化生长因子βⅡ型受体失活诱导由Apc突变引发的肠道肿瘤发生恶性转化。
Cancer Res. 2006 Oct 15;66(20):9837-44. doi: 10.1158/0008-5472.CAN-06-0890.
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TGF beta signaling in health and disease.健康与疾病中的转化生长因子β信号传导
Nat Genet. 2004 Aug;36(8):790-2. doi: 10.1038/ng0804-790.
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Heterozygous TGFBR2 mutations in Marfan syndrome.马凡综合征中的杂合型转化生长因子β受体2（TGFBR2）突变
Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4.
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The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.少年息肉病中MADH4和BMPR1A突变的患病率以及BMPR2、BMPR1B和ACVR1突变的缺失情况。
J Med Genet. 2004 Jul;41(7):484-91. doi: 10.1136/jmg.2004.018598.
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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).一种与MADH4（SMAD4）突变相关的青少年息肉病和遗传性出血性毛细血管扩张联合综合征。
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