Results 221 to 230 of about 1,544,422 (378)

Missense Mutations That Inactivate the Aspergillus nidulans nrtA Gene Encoding a High-Affinity Nitrate Transporter [PDF]

, 2004
James R. Kinghorn, Joan Sloan, Ghassan Kanan, Edisio R DaSilva, Duncan A. Rouch, Shiela E. Unkles   +5 more
openalex   +1 more source

CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia. [PDF]

Genes (Basel)
Nariman A, Nikoo MH, Sarrafzadegan N, Zibanejad MJ, Jervekani ZT, Daliri K, Tabatabaiefar MA.   +6 more
europepmc   +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

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
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 recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2. [PDF]

Anim Genet
Fuller AM, Davidson C, Petersen JL.
europepmc   +1 more source

A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors

Nature Genetics, 2014
I. Petrini, P. Meltzer, In-Kyu Kim, M. Lucchi, K. Park, G. Fontanini, James Gao, P. Zucali, F. Calabrese, A. Favaretto, F. Rea, J. Rodriguez-Canales, R. Walker, M. Pineda, Y. Zhu, C. Lau, K. Killian, S. Bilke, D. Voeller, S. Dakshanamurthy, Yi-Song Wang, G. Giaccone   +21 more
semanticscholar   +1 more source

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact

Céline Léon, Marie Francoise Odou, Bertrand Roquelaure, Louis Lebreton, Mathias Ruiz, Carolin Victoria Schneider, Céline Renoux, Aurélie Evrard, Malika Balduyck, Magali Dechomet, Christine Lombard, Mathilde Butori Pepino, Kai Markus Schneider, Víctor Marín, Sylvaine Di-Tomasso, Cyril Dourthe, Jean-William Dupuy, Anne-Aurélie Raymond, Sophie Collardeau‐Frachon, Aurélie Haffner, Radia Fritih, Emmanuelle Goubert, Vanna Geromel, Philippe Joly, Alexandre Fabre, Marion Bouchecareilh   +25 more
openalex   +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

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