Results 1 to 10 of about 14,599 (157)

Thoracic SMARCA4-deficient undifferentiated tumor

Discover Oncology, 2023
AbstractThoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently described smoking-related malignancy. The pathogenesis of SMARCA4-UT is the mutational inactivation and loss of expression of a subunit encoding the mammalian switch/sucrose nonfermenting ATPase-dependent chromatin remodeling complex (which can be mobilized using ...
Jiapeng Jiang, Zhixin Chen, Jiali Gong, Na Han, Hongyang Lu   +4 more
exaly   +4 more sources

A Pan-Cancer Analysis of SMARCA4 Alterations in Human Cancers [PDF]

Frontiers in Immunology, 2021
BackgroundSMARCA4, the essential ATPase subunit of SWI/SNF chromatin remodeling complex, regulates transcription through the control of chromatin structure and is increasingly thought to play significant roles in human cancers. This study aims to explore the potential role of SMARCA4 with a view to providing insights on pathologic mechanisms implicated
Jisheng Li, Jie Wu, Bin Xu
exaly   +4 more sources

SMARCA4/BRG1-Deficient Sinonasal Carcinoma [PDF]

Archives of Pathology & Laboratory Medicine, 2021
Context.— Molecular analysis of poorly differentiated/undifferentiated sinonasal neoplasms has resulted in identification of a growing number of genetically defined tumors. SMARCA4-deficient sinonasal carcinoma is one such recently described entity that emerged from within sinonasal undifferentiated carcinoma ...
Aanchal, Kakkar, Subiyathul Farah, Ashraf, Amber, Rathor, Amit Kumar, Adhya, Suresh, Mani, Kapil, Sikka, Deepali, Jain   +6 more
openaire   +2 more sources

SMARCA4 biology in alveolar rhabdomyosarcoma

Oncogene, 2022
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and phenocopies a muscle precursor that fails to undergo terminal differentiation. The alveolar subtype (ARMS) has the poorest prognosis and represents the greatest unmet medical need for RMS. Emerging evidence supports the role of epigenetic dysregulation in RMS.
Narendra Bharathy, Megan M. Cleary, Jin-Ah Kim, Kiyo Nagamori, Kenneth A. Crawford, Eric Wang, Debarya Saha, Teagan P. Settelmeyer, Reshma Purohit, Damianos Skopelitis, Kenneth Chang, Jessica A. Doran, C. Ward Kirschbaum, Suriya Bharathy, Davis W. Crews, Matthew E. Randolph, Anthony N. Karnezis, Lisa Hudson-Price, Jyotsna Dhawan, Joel E. Michalek, Alessio Ciulli, Christopher R. Vakoc, Charles Keller   +22 more
openaire   +4 more sources

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change. [PDF]

, 2020
In pharmacogenomic studies of quantitative change, any association between genetic variants and the pretreatment (baseline) measurement can bias the estimate of effect between those variants and drug response.
Haldar, Tanushree, Hoffmann, Thomas J, Iribarren, Carlos, Krauss, Ronald M, Medina, Marisa W, Oni-Orisan, Akinyemi, Ranatunga, Dilrini K, Risch, Neil, Schaefer, Catherine   +8 more
core   +2 more sources

SMARCA4-deficient Sinonasal Carcinoma [PDF]

Head and Neck Pathology, 2017
The term "sinonasal undifferentiated carcinoma (SNUC)" has been coined in 1986 for a highly aggressive sinonasal tract epithelial neoplasm showing distinctive morphology, but lacking any specific line of differentiation. Recent developments resulted in a dynamic splitting of new entities traditionally included in the spectrum of SNUC.
Abbas, Agaimy, Wilko, Weichert
openaire   +2 more sources

Intratumoral heterogeneity analysis reveals hidden associations between protein expression losses and patient survival in clear cell renal cell carcinoma. [PDF]

, 2017
Intratumoral heterogeneity (ITH) is a prominent feature of kidney cancer. It is not known whether it has utility in finding associations between protein expression and clinical parameters. We used ITH that is detected by immunohistochemistry (IHC) to aid
Devarajan, Karthik, Dulaimi, Essel, Jiang, Wei, O\u27Neill, Raymond, Parsons, Theodore, Peiper, Stephen C., Solomides, Charalambos C., Testa, Joseph R., Uzzo, Robert, Wang, Qiong, Yang, Haifeng   +10 more
core   +3 more sources

Chromatin accessibility underlies synthetic lethality of SWI/SNF subunits in ARID1A-mutant cancers. [PDF]

, 2017
ARID1A, a subunit of the SWI/SNF chromatin remodeling complex, is frequently mutated in cancer. Deficiency in its homolog ARID1B is synthetically lethal with ARID1A mutation.
Amaral, Maria Luisa, Benner, Christopher, Hargreaves, Diana C, Kelso, Timothy WR, Porter, Devin K, Shokhirev, Maxim N   +5 more
core   +1 more source

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Identification of H3K4me1-associated proteins at mammalian enhancers. [PDF]

, 2017
Enhancers act to regulate cell-type-specific gene expression by facilitating the transcription of target genes. In mammalian cells, active or primed enhancers are commonly marked by monomethylation of histone H3 at lysine 4 (H3K4me1) in a cell-type ...
Albuquerque, Claudio P, Corbett, Kevin D, Ge, Kai, Hsia, Judy E, Huang, Hui, Lee, Ah Young, Local, Andrea, Ren, Bing, Shiau, Andrew K, Singh, Namit, Wang, Chaochen, Wang, Dong, Wang, Wei, Zhou, Huilin   +13 more
core   +2 more sources