Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature

2021 ◽  
Author(s):  
Hossein Jafari Khamirani ◽  
Sina Zoghi ◽  
Zahra Mehdipour Namdar ◽  
Neda Kamal ◽  
Mehdi Dianatpour ◽  
...  
2017 ◽  
Vol 22 (1-2) ◽  
pp. 75-97 ◽  
Author(s):  
Małgorzata Figiel ◽  
Andrzej Górecki

Author(s):  
Natale D'Alessandro ◽  
Lydia Giannitrapani ◽  
Manuela Labbozzetta ◽  
Paola Poma ◽  
Luigi Inguglia ◽  
...  

2010 ◽  
Vol 107 (12) ◽  
pp. 1490-1497 ◽  
Author(s):  
Konstanze Beck ◽  
Ben J. Wu ◽  
Jun Ni ◽  
Fernando S. Santiago ◽  
Kristine P. Malabanan ◽  
...  

2017 ◽  
Vol 44 (4) ◽  
pp. 1651-1664 ◽  
Author(s):  
Guo-yi Wu ◽  
Chen Rui ◽  
Ji-qiao Chen ◽  
Eiketsu Sho ◽  
Shan-shan Zhan ◽  
...  

Background/Aims: An increase in intracellular lipid droplet formation and hepatic triglyceride (TG) content usually results in nonalcoholic fatty liver disease. However, the mechanisms underlying the regulation of hepatic TG homeostasis remain unclear. Methods: Oil red O staining and TG measurement were performed to determine the lipid content. miRNA expression was evaluated by quantitative PCR. A luciferase assay was performed to validate the regulation of Yin Yang 1 (YY1) by microRNA (miR)-122. The effects of miR-122 expression on YY1 and its mechanisms involving the farnesoid X receptor and small heterodimer partner (FXR-SHP) pathway were evaluated by quantitative PCR and Western blot analyses. Results: miR-122 was downregulated in free fatty acid (FFA)-induced steatotic hepatocytes, and streptozotocin and high-fat diet (STZ-HFD) induced nonalcoholic steatohepatitis (NASH) in mice. Transfection of hepatocytes with miR-122 mimics before FFA induction inhibited lipid droplet formation and TG accumulation in vitro. These results were verified by overexpressing miR-122 in the livers of STZ-HFD-induced NASH mice. The 3’-untranslated region (3’UTR) of YY1 mRNA is predicted to contain an evolutionarily conserved miR-122 binding site. In silico searches, a luciferase reporter assay and quantitative PCR analysis confirmed that miR-122 directly bound to the YY1 3’UTR to negatively regulate YY1 mRNA in HepG2 and Huh7 cells. The (FXR-SHP) signaling axis, which is downstream of YY1, may play a key role in the mechanism of miR-122-regulated lipid homeostasis. YY1-FXR-SHP signaling, which is negatively regulated by FFA, was enhanced by miR-122 overexpression. This finding was also confirmed by overexpression of miR-122 in the livers of NASH mice. Conclusions: The present results indicate that miR-122 plays an important role in lipid (particularly TG) accumulation in the liver by reducing YY1 mRNA stability to upregulate FXR-SHP signaling.


2001 ◽  
Vol 77 (3) ◽  
pp. 935-942 ◽  
Author(s):  
Jo Ann Berndt ◽  
Jin G. Kim ◽  
Mirjana Tosic ◽  
Christopher Kim ◽  
Lynn D. Hudson

Author(s):  
Karina A. Lenartowicz ◽  
Anshit Goyal ◽  
Michelle L. Mauermann ◽  
Thomas J. Wilson ◽  
Robert J. Spinner

2004 ◽  
Vol 128 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Ajay Rawal ◽  
Thomas C. Keeler ◽  
Michelangelo A. Milano

Abstract We report a case of testicular extramedullary myeloid cell tumor in a 37-year-old man who presented with an acute testicular hemorrhage. A pathologic examination revealed no gross tumor mass. A well-differentiated extramedullary myeloid cell tumor infiltrate was seen histologically, localized largely to the seminiferous tubules. The patient had no evidence of any past or concurrent myeloid disorders. The lack of the usual clinical features of a testicular mass and the presence of an intratubular pattern of infiltration can further compound the challenges in diagnosing this entity.


Sign in / Sign up

Export Citation Format

Share Document