نتایج جستجو برای: werner syndrome
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The MYC oncoprotein is a transcription factor that coordinates cell growth and division. MYC overexpression exacerbates genomic instability and sensitizes cells to apoptotic stimuli. Here we demonstrate that MYC directly stimulates transcription of the human Werner syndrome gene, WRN, which encodes a conserved RecQ helicase. Loss-of-function mutations in WRN lead to genomic instability, an elev...
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a characterised by obstructed hemivagina, agenesis uterine didelphys. It rare congenital results from defective fusion of the Müllerian ducts during development female reproductive system. also known as Herlyn-Werner-Wunderlich syndrome. Aim study was to project case developmental Mullerian OHVIRA anomaly. The most common ...
As ~75% of the Werner syndrome (WS) patients recognized between 1904 and 2008 all over the world are of Japanese origin, the most case reports and clinical studies on WS has been published in Japanese journals. Thus, the detailed English-written clinical review on the recent WS case reports has been warranted. Although WS has been characterized by a variety of clinical manifestations mimicking ...
The WRN DNA helicase is a member of the DExH-containing DNA helicase superfamily that includes XPB, XPD, and BLM. Mutations in WRN are found in patients with the premature aging and cancer susceptibility syndrome known as Werner syndrome (WS). p53 binds to the WRN protein in vivo and in vitro through its carboxyl terminus. WS fibroblasts have an attenuated p53- mediated apoptotic response, and ...
Herlyn werner wunderlich syndrome (HWWS) is a rare congenital mullerian ductal Anomaly (MDA) characterised by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It generally occurs at puberty and exhibhits non-specific and variable symptoms with acute or chronic pelvic pain shortly following menarche, causing a delay in diagnosis. Moreover, the diagnosis is com...
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