Esophageal Cancer Epigenomics and Integrome Analysis of Genome-Wide Methylation and Expression in High Risk Northeast Indian Population.
New Delhi, India. In Omics, Nov 2015
These included four genes (PTK2, RND1, RND3, and UBL3) with promoter hypermethylation and downregulation, and 19 genes (SEMG2, CD97, CTNND2, CADM3, OMD, NEFM, FBN2, CTNNB1, DLX6, UGT2B4, CCDC80, PZP, SERPINA4, TNFSF13B, NPC1, COL1A1, TAC3, BMP8A, and IL22RA2) with promoter hypomethylation and upregulation.
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
New Haven, United States. In Ann Thorac Surg, Nov 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Fibrillin microfibrils in bone physiology.
New York City, United States. In Matrix Biol, Oct 2015
UNASSIGNED: The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in spite of representing a low abundance component of skeletal matrices.
Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
New York City, United States. In Plos Genet, Jun 2015
These new findings demonstrate that loss of fibrillin-2 results in phenotypes similar to those found in congenital muscular dystrophies and that FBN2 should be considered as a candidate gene for recessive congenital muscular dystrophy.
The Role of Immunohistochemistry in Rhabdomyosarcoma Diagnosis Using Tissue Microarray Technology and a Xenograft Model.
Valencia, Spain. In Fetal Pediatr Pathol, 2014
Desmin, myogenin, CK, EMA, INI1, LSD1, AP2β, fibrillin-2, HMGA2, nestin, and SIRT1 were tested using immunohistochemical staining.
Biogenesis and function of fibrillin assemblies.
New York City, United States. In Cell Tissue Res, 2010
Fibrillin-1 and fibrillin-2 are large cysteine-rich glycoproteins that serve two key physiological functions: as supporting structures that impart tissue integrity and as regulators of signaling events that instruct cell performance.