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Dermatofibrosarcoma protuberans: from translocation to targeted therapy.

Noujaim(Jonathan),Thway(Khin),Fisher(Cyril),… Cancer Biol Med 2016-01-18

...COL1A1;PDGFB) found in a majority of cases. In recent years, imatinib, a PDGFβR, ABL and KIT inhibitor, has revolutioniz...

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC2…

Gupta(Swati),Fahiminiya(Somayyeh),Wang(Tracy… Cold Spring Harb Mol Case Stud 2016-05-05

...COL1A1) secretion because of abnormal pro-COL1A1 retention in the endoplasmic reticulum (ER). The mutation we identified...

Stability of Reference Genes during Tri-Lineage Differentiation of Human Adipos…

Diesel(Luciana Fraga da Costa),dos Santos(Br… J Stem Cells 2016-06-17

...COL1A1, and RUNX2). Each marker showed a similar expression when normalized by H2AFZ, HPRT1, or RPL5, confirming that th...

Computational identification of miRNAs that modulate the differentiation of mes…

Seenprachawong(Kanokwan),Nuchnoi(Pornlada),N… PeerJ 2016-05-12

...COL1A1 and OSX) is important in controlling the differentiation of mesenchymal stem cells (MSCs) to bone tissues. The re...

Association of COL1A1 polymorphism with high myopia: a Meta-analysis.

Jin(Guang-Ming),Zhao(Xiao-Jing),Chen(Ai-Ming… Int J Ophthalmol 2016-05-10

...COL1A1 rs2075555 polymorphism and high myopia risk. We calculated the pooled odds ratios (ORs) of COL1A1 rs2075555 polym...

Increased Expression of Several Collagen Genes is Associated with Drug Resistan…

Januchowski(Radosław),Świerczewska(Monika),S… J Cancer 2016-07-08

...COL1A1, COL5A2, COL12A1 and COL17A1. 2. Genes with greater than a 50-fold increase in expression: COL1A2, COL15A1 and CO...

Genetic association of COL1A1 polymorphisms with high myopia in Asian populatio…

Gong(Bo),Qu(Chao),Huang(Xiao-Fang),Ye(Zi-Men… Int J Ophthalmol 2016-09-02

...COL1A1 polymorphisms with high myopia by a systematic review and Meta-analysis.,All association studies on COL1A1 and hi...

Expanding the clinical and genetic heterogeneity of hereditary disorders of con…

Alazami(Anas M),Al-Qattan(Sarah M),Faqeih(Ei… Hum Genet 2016-08-31

...COL1A1 variant. In addition, exome capture in a familial case identified a homozygous truncating variant in a novel and ...

[Analysis of gross deletions of COL1A1/2 genes in Chinese families affected wit…

Wang(Han),Zhao(Xiuli),Ren(Xiuzhi),Xiao(Jifan… Zhonghua Yi Xue Yi Chuan Xue … 2016-09-22

...COL1A1/2 genes among 46 patients affected with OI, in whom no mutation was detected in the sequences of the COL1A1/2 gen...

Comparative Transcriptome Analysis Identifies CCDC80 as a Novel Gene Associated…

Sasagawa(Shota),Nishimura(Yuhei),Sawada(Hiro… Front Pharmacol 2016-07-04

...COL1A1) expression. To validate the function of CCDC80 in vivo, we knocked out ccdc80 in zebrafish using the clustered r...

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