نتایج جستجو برای: col6a2
تعداد نتایج: 61 فیلتر نتایج به سال:
Background: Since both fetal and postnatal development is determined by early embryonic the molecular mechanism organogenesis process of mouse embryos have been thoroughly studied. However, specific in Mongolian sheep remains poorly understood. Methods: The 16-day 25-day embryo samples Inner Mongolia Hulunbuir short-tailed were evaluated transcriptome sequencing technique genes with significant...
Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel (version 1, March 9, 2016) consists of sequence analysis of genes associated with distal myopathy and muscular dystrophy: ACTA1, ANO5, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, LIMS2, LMNA, LMOD3, MTM1,...
INTRODUCTION Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxi...
Collagen VI, one of the extracellular matrix proteins, has been implicated in regulating cell proliferation and reducing apoptosis in several different systems. However, the role of collagen VI in the central nervous system remains unclear. In this manuscript, we demonstrated that upon ultraviolet (UV) irradiation, mouse primary hippocampal neurons specifically up-regulate the expression of Col...
Purpose: To elucidate molecular pathways contributing to metastatic cancer progression and poor clinical outcome in serous ovarian cancer. Experimental Design: Poor survival signatures from three different serous ovarian cancer datasets were compared and a common set of genes was identified. The predictive value of this gene signature was validated in independent datasets. The expression of the...
The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the alpha 1 and alpha 2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated as candidate genes. We investigate a large family of French Canadian descent (family 1489) in which the Bethlem myopathy is segregating. Fami...
Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually used for gene silencing by stimulating RNA cleavage through the recruitment of an endogenous endonu...
PURPOSE To elucidate molecular pathways contributing to metastatic cancer progression and poor clinical outcome in serous ovarian cancer. EXPERIMENTAL DESIGN Poor survival signatures from three different serous ovarian cancer datasets were compared and a common set of genes was identified. The predictive value of this gene signature was validated in independent datasets. The expression of the...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید