نتایج جستجو برای: ژن FHL1

تعداد نتایج: 15963  

جواد محمدی اصل غلامعباس دیناروند نادر صاکی ندا گلچین نسترن رنجبری

زمینه و هدف: نمونه­برداری سوزنی (FNA) بهترین روش برای تشخیص قبل از جراحی تومورهای تیرویید است که به طور گسترده برای بیماران انجام می­شود، اما متأسفانه برای حدود 20% موارد، جواب به صورت مشکوک و یا حد واسط گزارش می­شود. همچنین با توجه به جواب­های مثبت و منفی کاذب که گزارش می­شوند، نیاز به وجود بیومارکر احساس می­شود تا صحت آزمایش تشخیص قبل از جراحی را بهبود بخشد. هدف از این تحقیق ...

Journal: :Journal of cell science 2014
Brendan R Wilding Meagan J McGrath Gisèle Bonne Christina A Mitchell

FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). The molecular mechanisms underlying the pathogenesis of FHL1 myopathies are unknown. Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are detected in RBM muscle but not in se...

2011
Lihua Ding Chang Niu Yiqiong Zheng Zhihong Xiong Yufei Liu Jing Lin Huiwei Sun Ke Huang Wen Yang Xiru Li Qinong Ye

Four and a half LIM protein 1 (FHL1) belongs to the Lin-1, Isl-1 and Mec-3 (LIM)-only protein family and plays important roles in muscle growth and carcinogenesis. However, the biological function of FHL1 remains largely unknown. Here, we show that FHL1 physically and functionally interacted with oestrogen receptors (ERs), which are involved in breast cancer development and progression. FHL1 bo...

2018
M. Keßler A. Kieltsch E. Kayvanpour H. A. Katus B. Schoser J. Schessl S. Just W. Rottbauer

Missense mutations in the four and a half LIM domain 1 (FHL1) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscle. However, the mechanisms by which FHL1 mutations impact on FHL1 function and lead to alteration of muscle structure and function have not been deciphered yet. We generated here by Morpholino-modified antisense oligonucleotide-mediated gene knockd...

Journal: :The Journal of clinical investigation 2015
Inka Albrecht Cecilia Wick Åsa Hallgren Anna Tjärnlund Kanneboyina Nagaraju Felipe Andrade Kathryn Thompson William Coley Aditi Phadke Lina-Marcela Diaz-Gallo Matteo Bottai Inger Nennesmo Karine Chemin Jessica Herrath Karin Johansson Anders Wikberg A Jimmy Ytterberg Roman A Zubarev Olof Danielsson Olga Krystufkova Jiri Vencovsky Nils Landegren Marie Wahren-Herlenius Leonid Padyukov Olle Kämpe Ingrid E Lundberg

Mutations of the gene encoding four-and-a-half LIM domain 1 (FHL1) are the causative factor of several X-linked hereditary myopathies that are collectively termed FHL1-related myopathies. These disorders are characterized by severe muscle dysfunction and damage. Here, we have shown that patients with idiopathic inflammatory myopathies (IIMs) develop autoimmunity to FHL1, which is a muscle-speci...

Journal: :Human molecular genetics 2014
Andrea A Domenighetti Pao-Hsien Chu Tongbin Wu Farah Sheikh David S Gokhin Ling T Guo Ziyou Cui Angela K Peter Danos C Christodoulou Michael G Parfenov Joshua M Gorham Daniel Y Li Indroneal Banerjee Xianyin Lai Frank A Witzmann Christine E Seidman Jonathan G Seidman Aldrin V Gomes G Diane Shelton Richard L Lieber Ju Chen

Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy. However, it remains to be clarified whether mutations in FHL1 cause skeletal ...

2015
Jen Y. Lee Dede Lori Dominic J. Wells Paul R. Kemp

Myostatin is a TGFβ family ligand that reduces muscle mass. In cancer cells, TGFβ signalling is increased by the protein FHL1. Consequently, FHL1 may promote signalling by myostatin. We therefore tested the ability of FHL1 to regulate myostatin function. FHL1 increased the myostatin activity on a SMAD reporter and increased myostatin dependent myotube wasting. In mice, independent expression of...

2014
Yu Wang Jie Fu Mengmeng Jiang Xiaoai Zhang Long Cheng Xiaojie Xu Zhongyi Fan Jing Zhang Qinong Ye Haifeng Song Jin Q. Cheng

FHL1 is an important tumor-suppressor that is downregulated in multiple tumors by unknown mechanisms. We demonstrated that miR-410 specifically targets the 3'UTR of FHL1. Furthermore, using DNA bisulfite modification and sequencing experiments, we demonstrated that the FHL1 promoter is hypermethylated in cancer cells. FHL1 methylation is increased upon miR-410 expression, suggesting that the re...

Journal: :The Journal of biological chemistry 2006
Meagan J McGrath Denny L Cottle Mai-Anh Nguyen Jennifer M Dyson Imogen D Coghill Paul A Robinson Melissa Holdsworth Belinda S Cowling Edna C Hardeman Christina A Mitchell Susan Brown

Four and a half LIM protein 1 (FHL1/SLIM1) is highly expressed in skeletal and cardiac muscle; however, the function of FHL1 remains unknown. Yeast two-hybrid screening identified slow type skeletal myosin-binding protein C as an FHL1 binding partner. Myosin-binding protein C is the major myosin-associated protein in striated muscle that enhances the lateral association and stabilization of myo...

2016
Wei Cao Jiannan Liu Ronghui Xia Lu Lin Xu Wang Meng Xiao Chenping Zhang Jiang Li Tong Ji Wantao Chen

To identify X-linked novel tumor suppressors could provide novel insights to improve prognostic prediction and therapeutic strategy for some cancers. Using bioinformatics and Venn analysis of gene transcriptional profiling, we identified downregulation of X-linked four-and-a-half LIM domains protein 1 (FHL1) gene in head and neck squamous cell carcinoma (HNSCC). FHL1 functions were investigated...

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