نتایج جستجو برای: col6a1
تعداد نتایج: 128 فیلتر نتایج به سال:
BACKGROUND To clarify the role of the POU domain transcription factor Oct4 in Adipose Tissue Stromal Cells (ATSCs), we investigated the regulation of Oct4 expression and other embryonic genes in fully differentiated cells, in addition to identifying expression at the gene and protein levels. The ATSCs and several immature cells were routinely expressing Oct4 protein before and after differentia...
PURPOSE Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia. METHODS A total of 48 patients suspec...
Commentary on: Adipocyte-derived endotrophin promotes malignant tumor progression Collagen VI (COL6, encoded by the COL6A1, COL6A2, and COL6A3 genes) is an extracellular matrix protein that forms a microfilamentous network in various connective tissues, including skeletal muscle, cartilage, skin and adipose tissue. Among the various tissues, adipose tissue is by far the most abundant source of ...
PURPOSE With advances in phenotyping tools and availability of molecular characterization, an increasing number of phenotypically and genotypically diverse inherited corneal dystrophies are described. We aimed to determine the underlying causative genetic mechanism in a three-generation pedigree affected with a unique anterior membrane corneal dystrophy characterized by early onset recurrent co...
BACKGROUND Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, limiting the diagnostic rate using phenotype driven genetic testing. Next generation sequencing provi...
To the Editor: For noninvasive prenatal diagnosis, markers that directly reflect changes in chromosome dosage are preferred over indirect markers that are associated with epiphenomena (1, 2). The RNA:single-nucleotide polymorphism (SNP) allelic ratio strategy was described recently as a means to directly assess fetal chromosome dosage in maternal plasma (2). Quantitive comparison of the allelic...
PURPOSE To increase our understanding of the mechanisms that remodel the sclera during the development of lens-induced myopia, when the sclera responds to putative "go" signals of retinal origin, and during recovery from lens-induced myopia, when the sclera responds to retinally-derived "stop" signals. METHODS Seven groups of tree shrews were used to examine mRNA levels during minus lens comp...
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