Search Results - "mutant"

In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study by Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola, Chandrika Wijeyaratne

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Profile of pridopidine and its potential in the treatment of Huntington disease: the evidence to date by Squitieri F, de Yebenes JG

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Association between TNF, IL1B, IL6, IL10 and IFNG polymorphisms and recurrent miscarriage: a case control study by Jianting Ma, Xingguang Zhang, Gang He, Chunlin Yang

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ProGeo-neo: a customized proteogenomic workflow for neoantigen prediction and selection by Yuyu Li, Guangzhi Wang, Xiaoxiu Tan, Jian Ouyang, Menghuan Zhang, Xiaofeng Song, Qi Liu, Qibin Leng, Lanming Chen, Lu Xie

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Upregulation of CB2 receptors in reactive astrocytes in canine degenerative myelopathy, a disease model of amyotrophic lateral sclerosis by María Fernández-Trapero, Francisco Espejo-Porras, Carmen Rodríguez-Cueto, Joan R. Coates, Carmen Pérez-Díaz, Eva de Lago, Javier Fernández-Ruiz

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BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy by Vanessa Strings-Ufombah, Alberto Malerba, Shih-Chu Kao, Sonal Harbaran, Fanny Roth, Ornella Cappellari, Ngoc Lu-Nguyen, Keiko Takahashi, Sophie Mukadam, Georgina Kilfoil, Claudia Kloth, Petrus Roelvink, George Dickson, Capucine Trollet, David Suhy

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Motor neurons and glia exhibit specific individualized responses to TDP-43 expression in a Drosophila model of amyotrophic lateral sclerosis by Patricia S. Estes, Scott G. Daniel, Abigail P. Mccallum, Ashley V. Boehringer, Alona S. Sukhina, Rebecca A. Zwick, Daniela C. Zarnescu

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Association of Tumor Necrosis Factor Alpha Gene Polymorphisms with Inflammatory Bowel Disease in Iran. by Nosratollah Naderi, Alma Farnood, Tahereh Dadaei, Manijeh Habibi, Hedie Balaii, Farzad Firouzi, Aydin Mahban, Masoumeh Soltani, Mohammadreza Zali

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Influences of healthcare workers' behaviours towards infection prevention and control practices in the clinical setting: A systematic review by Gift A. Mutsonziwa, Marwa Mojab, Megha Katuwal, Paul Glew

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Bacteriophage SRD2021 Recognizing Capsular Polysaccharide Shows Therapeutic Potential in Serotype K47 <i>Klebsiella pneumoniae</i> Infections by Guijuan Hao, Rundong Shu, Liqin Ding, Xia Chen, Yonghao Miao, Jiaqi Wu, Haijian Zhou, Hui Wang

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Interleukin-6 gene polymorphism in Saudi population with recurrent aphthous stomatitis by Samah Jameel Saeed Shabana, Muhammad Hamid Zaini Mutawakkil, Hassan Mamdouh Aly El-Ashmaoui, Fathya Mohammed Abdel-Qawi Zahran

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Golgi-located NTPDase1 of Leishmania major is required for lipophosphoglycan elongation and normal lesion development whereas secreted NTPDase2 is dispensable for virulence. by Fiona M Sansom, Julie E Ralton, M Fleur Sernee, Alice M Cohen, David J Hooker, Elizabeth L Hartland, Thomas Naderer, Malcolm J McConville

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Cerebral hemispheric glioblastoma with PNET-like morphology and histone H3.3 G34 mutation in younger patients: Report of three rare cases and diagnostic pitfalls by Yuanyuan Cheng, Weiqi Bao, Qian Wu

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Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila by Hannah B. Gordon, Lourdes Valdez, Anthea Letsou

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Pathogenic Missense Mutations in Nicotine-metabolizing Cytochrome P450 2A6 Gene - An In silico Study by Kalaivani Venkadesan, L. Leelavathi, J. Vijayashree Priyadharsini, I. Meignana Arumugham, S. Rajesh Kumar

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An exonic splicing enhancer mutation in DUOX2 causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs by Chunwei Cao, Ying Zhang, Qitao Jia, Xiao Wang, Qiantao Zheng, Hongyong Zhang, Ruigao Song, Yongshun Li, Ailing Luo, Qianlong Hong, Guosong Qin, Jing Yao, Nan Zhang, Yanfang Wang, Hongmei Wang, Qi Zhou, Jianguo Zhao

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Peroxiredoxin 2 regulates DAF-16/FOXO mediated mitochondrial remodelling in response to exercise that is disrupted in ageing by Qin Xia, Penglin Li, José C. Casas-Martinez, Antonio Miranda-Vizuete, Emma McDermott, Peter Dockery, Katarzyna Goljanek-Whysall, Brian McDonagh

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The fate of nephrons in congenital and heritable renal disorders by Robert L. Chevalier

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Structure-guided design and cloning of peptide inhibitors targeting CDK9/cyclin T1 protein-protein interaction by Mohammad Sadegh Taghizadeh, Mohsen Taherishirazi, Ali Niazi, Alireza Afsharifar, Ali Moghadam

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Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects by Ana Rolo, Gabriel L. Galea, Dawn Savery, Nicholas D. E. Greene, Andrew J. Copp

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