نتایج جستجو برای: col11a1

تعداد نتایج: 147  

Journal: :Gene expression patterns : GEP 2010
Ming Fang Jason S Adams B Lane McMahan Raquel J Brown Julia Thom Oxford

Minor fibrillar collagens are recognized as the organizers and nucleators during collagen fibrillogenesis but likely serve additional functions. The minor fibrillar collagens include collagens type V and XI. Mutations of collagens type V and XI can cause Ehlers-Danlos, Stickler's, and Marshall's syndromes in human. We have characterized the spatiotemporal expression patterns of Col11a1, Col11a2...

2004
A V Poulson M Baguley J D Scott M P Snead

T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...

2013
Wanting Liu Yonghong Peng Desmond J. Tobin

Genome-wide microarray technology has facilitated the systematic discovery of diagnostic biomarkers of cancers and other pathologies. However, meta-analyses of published arrays often uncover significant inconsistencies that hinder advances in clinical practice. Here we present an integrated microarray analysis framework, based on a genome-wide relative significance (GWRS) and genome-wide global...

Journal: :Journal of medical genetics 2004
A V Poulson J M M Hooymans A J Richards P Bearcroft R Murthy D M Baguley J D Scott M P Snead

T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...

چکیده مقدمه: فتق دیسک کمر (LDH) یک بیماری دژنره است که ژنتیک و اثرات محیط در ابتلا به آن موثر می باشد. کلاژن نوع XI برای ساخت ماتریکس خارج سلولی و ساخت کلاژن غضروف دارای اهمیت می باشد.     rs1676486 یک SNPی بوده که منجر به تبدیل C-T شده در نتیجه تغییر در بیان COL11A1 رخ می دهد. الل T منجر به کاهش رونوشت COL11A1 شده و در نهایت منجر به بهم ریختن تعادل بیان ...

Journal: :Cancers 2023

Adrenocortical carcinoma (ACC) is a rare but highly aggressive cancer with limited treatment options and poor survival for patients advanced disease. An improved understanding of the transcriptional programs engaged in ACC will help direct rational, targeted therapies. Whereas activating mutations Wnt/β-catenin signaling are frequently observed, β-catenin-dependent targets that promote tumor pr...

2014
Dong-Joo Cheon Yunguang Tong Myung-Shin Sim Judy Dering Dror Berel Xiaojiang Cui Jenny Lester Jessica A. Beach Mourad Tighiouart Ann E. Walts Beth Y. Karlan Sandra Orsulic

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...

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