Marc A. Willaredt, Kerstin Hasenpusch-Theil, Humphrey Gardner, Igor Kitanovic, Vera Hirschfeld-Warneken, Christian Gojak, Karin Gorgas, C. Lulu Bradford, Joachim Spatz, Stefan Woelfl, Thomas Theil, Kerry L. Tucker 1 Interdisciplinary Center for Neurosciences, University of Heidelberg, Heidelberg, Germany 2 Dept. of Anatomy, University of Heidelberg, Heidelberg, Germany 3 Centres for Neuroscienc...

Microtia is a congenital malformation of the outer ears. Although both genetic and environmental components have been implicated in microtia, the genetic causes of this innate disorder are poorly understood. Pigs have naturally occurring diseases comparable to those in humans, providing exceptional opportunity to dissect the molecular mechanism of human inherited diseases. Here we first demonst...

BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a f...

The primary cilium is a microtubule-based organelle that senses extracellular signals as a cellular antenna. Primary cilia are found on many types of cells in our body and play important roles in development and physiology. Defects of primary cilia cause a broad class of human genetic diseases called ciliopathies. To gain new insights into ciliary functions and better understand the molecular m...

Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes. However, no causal genes were reported for isolated microtia, the main form of microtia. We conducted a genome-wide linkage analysis on a 5-generation Chinese pedigree with isolated bilateral microtia. We identified a sugges...

objective(s): the aim of this study was to investigate the methylation status and mrna expression levels of p15, death-associated protein kinase (dapk), and suppressor of cytokine signaling-1 (socs1) genes in multiple myeloma (mm). materials and methods: the bone marrow samples of 54 mm patients were collected and the methylation status of the p15, dapk, and socs1 gene promoter regions was dete...

conclusions some results of the correlation coefficients are not the same with visualization. the reason may be due to the small number of data. materials and methods in the foundation-application study, we constructed two-way gene networks using nonparametric methods, such as spearman’s rank correlation coefficient and blomqvist’s measure, and compared them with pearson’s correlation coefficie...