Results 21 to 30 of about 31,788 (164)

VHL mosaicism: the added value of multi-tissue analysis

npj Genomic Medicine, 2022
Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms.
Leslie E. Oldfield, Jessica Grzybowski, Sylvie Grenier, Elizabeth Chao, Gregory S. Downs, Kirsten M. Farncombe, Tracy L. Stockley, Ozgur Mete, Raymond H. Kim   +8 more
doaj   +1 more source

Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

Cancer Cell International, 2021
Background Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most
Dali Tong, Yao Zhang, Jun Jiang, Gang Bi
doaj   +1 more source

SWI/SNF tumor suppressor gene PBRM1/BAF180 in human clear cell kidney cancer

Molecular & Cellular Oncology, 2017
Mutations within chromatin modulating protein complexes have dominated the novel cancer gene landscape. However, little is known about how individual aberrations contribute to cancer formation.
Amrita M. Nargund, Hatice U. Osmanbeyoglu, Emily H. Cheng, James J. Hsieh   +3 more
doaj   +1 more source

Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes

BMC Cancer, 2009
Background In von Hippel-Lindau (VHL) disease, germline mutations in the VHL tumor suppressor gene cause clear cell renal carcinomas, hemangioblastomas, and pheochromocytomas.
Isanova Bella, Alexander Ashlynn E, Rosenbloom Ava, Bangiyeva Valentina, Popko Timothy, Schoenfeld Alan R   +5 more
doaj   +1 more source

Characterization of therapeutic antibodies targeting lymphatic and vascular resistance factor for the treatment of hypervascularized and highly metastatic cancers

Molecular Oncology, EarlyView.
LVRF (lymphatic and vascular resistance factor) is a VEGFA splice variant upregulated in response to anti‐angiogenic therapy that fosters tumor adaptation through enhanced vascularization, lymphangiogenesis, and metastatic dissemination. Targeting LVRF with fully human neutralizing antibodies disrupts these processes and limits resistant tumor growth ...
Marion David, Arthur Karaulic, Audrey Bennetot, Clémence Fournier, Quentin Odet, Arthur Gouraud, Isabelle Bourget, Cédric Gaggioli, Sandy Giuliano, Frédéric Luciano, Olivier Léger, Zaki Sellam, Gilles Pagès   +12 more
wiley   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

A New Recruitable E3 Ligase UHRF1 Supporting Targeted Protein Degradation: A Minimal Azide as a Recruitment Ligand

Advanced Science, EarlyView.
Targeted protein degradation is often limited by the scarcity of usable E3 ligases. Herein, we report the first small‐molecule GPX4 degraders that incorporate either electrophilic warheads or a minimal azide group as an E3 recruitment ligand. The azide‐based degrader DK‐5070 effectively drives potent GPX4 degradation; mechanistic studies reveal that ...
Zehong Lin, Kang Duan, Rui Wan, Tao Jiang, Jinzhe Wei, Miao Sun, Mariia A. Skryl'nikova, Maxim A. Gureev, Zhi‐Min Zhang, Zhang Zhang, Ke Ding, Nan Ma, Tongzheng Liu, Yi Tan, Zhengqiu Li   +14 more
wiley   +1 more source

Mutated Von Hippel-Lindau-renal cell carcinoma (RCC) promotes patients specific natural killer (NK) cytotoxicity

Journal of Experimental & Clinical Cancer Research, 2018
Background Previous evidence demonstrated that restoration of wild type VHL in human renal cancer cells decreased in vitro NK susceptibility. To investigate on the role of tumoral VHL status versus NK capability in renal cancer patients, 51 RCC patients ...
Anna Maria Trotta, Sara Santagata, Serena Zanotta, Crescenzo D’Alterio, Maria Napolitano, Giuseppina Rea, Rosa Camerlingo, Fabio Esposito, Elvira Lamantia, Annamaria Anniciello, Giovanni Botti, Nicola Longo, Gerardo Botti, Sandro Pignata, Sisto Perdonà, Stefania Scala   +15 more
doaj   +1 more source

Near‐Infrared Fluorescent PROTAC Enables Theranostic Imaging and Selective Tau Degradation in Alzheimer's Disease

Advanced Science, EarlyView.
Here, we report a novel NIR fluorescent PROTAC platform that enables real‐time imaging and targeted degradation of Alzheimer's p‐Tau. Our lead compound effectively clears p‐Tau, reduces APP/Aβ, and alleviates cognitive deficits in AD mice. This work demonstrates a theranostic strategy for visualizing degradation and developing next‐generation AD ...
Ziwei Ren, Qian Yue, Ning Gao, Qiu‐Lian Hao, Yan Huo, Chuchu Li, Xinyue Leng, Lu‐Lu Sun, Maggie Pui Man Hoi, Hai‐Hao Han, Mingliang Ma, Xu‐Wen Li   +11 more
wiley   +1 more source

Hereditary pheochromocytoma/paraganglioma and associated syndromes: a clinical and genetic study

陆军军医大学学报
Objective To summarize and analyze the clinical phenotypes, hereditary features and treatment and follow-up strategies of different hereditary pheochromocytoma/paragangliomas (PCC/PGL) and related syndromes.
TANG Peng, LAN Weihua, ZHANG Yao
doaj   +1 more source