Results 211 to 220 of about 1,540,335 (330)

Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

Proceedings of the National Academy of Sciences of the United States of America, 2003
S. Kato, Shuang-yin Han, Wen Liu, Kazunori Otsuka, H. Shibata, R. Kanamaru, C. Ishioka   +6 more
semanticscholar   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene. [PDF]

Sci Rep
Shadhin MST, Mia MS, Das Topu TK, Tanmoy MSI, Aktar S, Sultana J, Hossen F, Pranto AR, Tahsin N, Shahir NF, Talukder MEK.   +10 more
europepmc   +1 more source

To be or not to be a protein coding mutation, that's the question! [PDF]

NAR Genom Bioinform
De Groote D, Pepe D, Janssens X, De Keersmaecker K.   +3 more
europepmc   +1 more source

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid. [PDF]

Calcif Tissue Int
Meng L, Hu J, Sun L, Zhang Q, Wang O, Jiang Y, Xing X, Xia W, Li M.   +8 more
europepmc   +1 more source

Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. [PDF]

, 2017
Cohn, David E, Goodfellow, Paul J, Kurita, Takeshi, Miranda, Mario A, Mutch, David G, O\u27Hern, Matthew J, Sapp, Caroline E, Serna, Vanida A, Walker, Christopher J   +8 more
core   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source