A Single Amino Acid Substitution (Cys249Trp) in Crb1 Causes Retinal Degeneration and Deregulates Expression of Pituitary Tumor Transforming Gene Pttg1
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چکیده
منابع مشابه
A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.
Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paravenous retinochoroidal atrophy. Loss of Crb1 leads to displaced photoreceptors and focal degeneration of all neural layers attributable to loss of adhe...
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the distinction between malignant and benign pheochromocytoma has always been a diagnostic challenge over the last decades. to date, the only reliable criterion is metastasis. the aim of the present study was to investigate the possible expression of pituitary-tumor transforming gene (pttg1) and retinoblastoma (rb) in benign and malignant pheochromocytoma. paraffin blocks of 44 and 11 patients ...
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BACKGROUND Recently, a vertebrate securin [pituitary tumor transforming gene (PTTG) in humans] has been identified that inhibits sister chromatid separation and is involved in malignant transformation and tumorigenesis. Abundance of this protein would disrupt cell division, generate chromosomal instability and thereby increase cell susceptibility to acquisition of further mutations during subse...
متن کاملCorrelations of Pituitary Tumor Transforming Gene Expression with Human Pituitary Adenomas: A Meta-Analysis
OBJECTIVE Pituitary tumor transforming gene (PTTG) is an important paracrine growth factor involved in early lactotrope transformation and early onset of angiogenesis in pituitary hyperplasia. Emerging evidences have shown that PTTG expression may contribute to the etiology of pituitary adenomas; but individually published studies showed inconclusive results. This meta-analysis aimed to derive ...
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ژورنال
عنوان ژورنال: Journal of Neuroscience
سال: 2007
ISSN: 0270-6474,1529-2401
DOI: 10.1523/jneurosci.3496-06.2007