نتایج جستجو برای: gene defect

تعداد نتایج: 1219432  

Journal: :Eukaryotic cell 2007
Alexander Dünkler Jürgen Wendland

Rho proteins are essential regulators of morphogenesis in eukaryotic cells. In this report, we investigate the role of two previously uncharacterized Rho proteins, encoded by the Candida albicans RHO3 (CaRHO3) and CaCRL1/CaRHO4 genes. The CaRHO3 gene was found to contain one intron. Promoter shutdown experiments using a MET3 promoter-controlled RHO3 revealed a strong cell polarity defect and a ...

Journal: :The Journal of endocrinology 1999
T Kotani K Umeki I Yamamoto H Maesaka K Tachibana S Ohtaki

In this study we describe a novel mutation of the thyroid peroxidase (TPO) gene that resulted in a total iodide organification defect. TPO activity and thyroxine formation in thyroglobulin in the thyroid gland of the patient were below the limits of detection. However, TPO mRNA was detectable at a similar size and concentration as compared with normal thyroid tissues when measured by Northern b...

ژورنال: یافته 2012
طائی, نادره , فرجی گودرزی, مژگان, فیروزی, مجید ,

Background : Pentalogy of Cantrell is a very rare congenital anomaly which is diagnosed with severe thoracoabdominal defect, omphalocele, lower sternal defect, anterior diaphragmatic defect anterior pericardial defect and ectopia cordis.Pathogenesis is unknown, mesodermal developmental defects in 14-18 days after conception maybe responsible . Case Report: The case is newborn with omphalocele ...

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