Results 191 to 200 of about 255,701 (284)

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

A missense mutation (L166P) in DJ‐1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo‐oligomerization [PDF]

, 2003
Darren J. Moore, Li Zhang, Ted M. Dawson, Valina L. Dawson   +3 more
openalex   +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

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 more
europepmc   +1 more source

Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report. [PDF]

Medicine (Baltimore)
Gao Y, Zheng Y, Lian J, Zeng L, Zeng L.
europepmc   +1 more source

Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene [PDF]

, 2006
Matthias Titeux, J. Mazereeuw‐Hautier, S. Hadj‐Rabia, Cathérine Prost, Laure Tonasso, Sylvie Fraitag, Y. De Prost, Alain Hovnanian, Christine Bodemer   +8 more
openalex   +1 more source

Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Sci Rep
Gong X, Lei X, Li Z, Xing Y.
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

Spontaneous ovarian hyperstimulation in a nonpregnant woman with PCOS: a rare case highlighting FMN2 missense mutation and androgen receptor gene deletion. [PDF]

J Ovarian Res
Ota K, Takahashi T, Nitta E, Watanabe K, Isayama K, Morimoto Y, Tsuji K, Matsuyama Y, Matsuyama T, Ota Y, Kanenishi K, Mizukami Y, Shimoya K.   +12 more
europepmc   +1 more source

A Missense Mutation in PPARD Causes a Major QTL Effect on Ear Size in Pigs

, 2011
Jun Ren, Yanyu Duan, Ruimin Qiao, Fei Yao, Zhiyan Zhang, Bin Yang, Yuanmei Guo, Shijun Xiao, Rongxin Wei, Zixuan Ouyang, Nengshui Ding, Huashui Ai, Lusheng Huang   +12 more
openalex   +2 more sources