Results 221 to 230 of about 1,702,970 (343)

Correction: APR-246 induces apoptosis and enhances chemo-sensitivity via activation of ROS and TAp73-Noxa signal in oesophageal squamous cell cancer with TP53 missense mutation. [PDF]

Br J Cancer
Kobayashi T, Makino T, Yamashita K, Saito T, Tanaka K, Takahashi T, Kurokawa Y, Yamasaki M, Nakajima K, Morii E, Eguchi H, Doki Y.   +11 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

A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013
C. Proukakis, Christopher G. Dudzik, T. Brier, D. Mackay, J. Cooper, G. Millhauser, H. Houlden, A. Schapira   +7 more
semanticscholar   +1 more source

A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in the <i>CYP24A1</i> Gene. [PDF]

JCEM Case Rep
Ahsan T, Yahya M, Dilawar H, Kumar A, Siddiqui R.   +4 more
europepmc   +1 more source

A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent colitis-associated tumorigenesis. [PDF]

J Clin Invest
Verna G, De Santis S, Islam BN, Sommella EM, Licastro D, Zhang L, De Almeida Celio F, Miller EN, Merciai F, Caponigro V, Xin W, Campiglia P, Pizarro TT, Chieppa M, Cominelli F.   +14 more
europepmc   +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

A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction. [PDF]

Front Cardiovasc Med
Ji YY, Wu Y, Sun J, Lin XX, Chen XM, Ji CC, Liu LJ, Cheng YJ, Wu SH.   +8 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source