نتایج جستجو برای: tgfbr2

تعداد نتایج: 564  

Journal: :Human molecular genetics 2001
H P Ji M C King

The coding sequences of multiple human tumor suppressor genes include microsatellite sequences that are prone to mutations. Saccharomyces cerevisiae strains deficient in DNA mismatch repair (MMR) can be used to determine de novo mutation rates of these human tumor suppressor genes as well as any other gene sequence. Microsatellites in human TGFBR2, PTEN and APC genes were placed in yeast vector...

Journal: :Gastroenterology 2005
Karsten Schulmann Yuriko Mori Victoria Croog Jing Yin Andreea Olaru Anca Sterian Fumiaki Sato Suna Wang Yan Xu Elena Deacu Agnes T Berki James P Hamilton Takatsugu Kan John M Abraham Wolff Schmiegel Noam Harpaz Stephen J Meltzer

BACKGROUND & AIMS Patients with inflammatory bowel disease (IBD) are at increased risk of developing colorectal cancer (CRC). We sought to determine the frequency of high-level microsatellite instability (MSI-H) and the mutational and methylation profile of MSI-H IBD-related neoplasms (IBDNs). METHODS A total of 124 IBDNs (81 cancers, 43 dysplasias) from 78 patients were studied for the frequ...

2013
Cheri Y. Li David K. Wood Joanne H. Huang Sangeeta N. Bhatia

The cancer microenvironment, which incorporates interactions with stromal cells, extracellular matrix (ECM), and other tumor cells in a 3-dimensional (3D) context, has been implicated in every stage of cancer development, including growth of the primary tumor, metastatic spread, and response to treatment. Our understanding of the tumor microenvironment and our ability to develop new therapies w...

2015
Laurence Campens Bert Callewaert Laura Muiño Mosquera Marjolijn Renard Sofie Symoens Anne De Paepe Paul Coucke Julie De Backer

BACKGROUND Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overlap between syndromic H-TAD entities and the absence of discriminating features in isolated cases. T...

Journal: :International journal of molecular medicine 2009
Tetsuro Yoshida Kimihiko Kato Kiyoshi Yokoi Mitsutoshi Oguri Sachiro Watanabe Norifumi Metoki Hidemi Yoshida Kei Satoh Yukitoshi Aoyagi Yutaka Nishigaki Yoshinori Nozawa Yoshiji Yamada

The purpose of the present study was to identify genetic variants which confer susceptibility to chronic kidney disease (CKD) in high- or low-risk subjects defined by conventional risk factors separately. The study population comprised 2828 Japanese individuals, including 434 subjects with CKD [estimated glomerular filtration rate (eGFR) <60 ml/min/1.73 m(2)] and 2394 controls (eGFR > or =60 ml...

Journal: :Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2012
I Mouna Ben Amor Thomas Edouard Francis H Glorieux Gilles Chabot Marc Tischkowitz Paul Roschger Klaus Klaushofer Frank Rauch

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder caused by heterozygous mutations in the genes encoding transforming growth factor beta receptor 1 or 2 (TGFBR1 or TGFBR2). Although an association between LDS and osteoporosis has been reported, the skeletal phenotype regarding bone mass is not well characterized. Here, we report on two LDS patients with mutation...

2017
Anika Witt Achim Salamon Diana Boy Doris Hansmann Andreas Büttner Andreas Wree Rainer Bader Anika Jonitz-Heincke

The main goal of cartilage repair is to create functional tissue by enhancing the in vitro conditions to more physiological in vivo conditions. Chondrogenic growth factors play an important role in influencing cartilage homeostasis. Insulin‑like growth factor (IGF)‑1 and transforming growth factor (TGF)‑β1 affect the expression of collagen type II (Col2) and glycosaminoglycans (GAGs) and, there...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید