Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation by Xun Wang, Cong Zheng, Wen Liu, Hui Yang

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Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums by Hongtao Xiao, Yuna Tong, Yuxuan Zhu, Min Peng

“…In this review, we summarized and discussed the spectrum of mutations involving these four genes. By the end of 2017, the number of FEVR causing mutations reported for NDP, FZD4, LRP5, and TSPAN12 was, respectively, 26, 121, 58, and 40. …”
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Crime Films and Lexical Change: Can an Analysis of an Electronic Corpus of Fifteen Crime Films Help Students Understand Semantic Mutations? by Jean-Louis Vidalenc

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Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients by Yinan Zhang, Xiujuan Du, Xinqian Geng, Chen Chu, Huijuan Lu, Yixie Shen, Ruihua Chen, Pingyan Fang, Yanmei Feng, Xiaojie Zhang, Yan Chen, Yanping Zhou, Congrong Wang, Weiping Jia

“…In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. …”
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Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation by Lizl Lasky, Lindsay Bliss, Christos Sidiropoulos

“…Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown. …”
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A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions by Mehdi Nadiri, Mortaza Raeisi, Seyed Ali Mousavi Aghdas

“…The impact of this mutation on the pattern of disease presentation and response to treatment is not clear yet.…”
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Thicker Carotid Intima Media Thickness in Children with Monocyte Chemoattractant Protein-1: A-2138T and A-2464G Mutation by Yuyun Yueniwati, Valentina Yurina, Mohammad Rasjad Indra

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Overexpression of multiple cytochrome P450 genes with and without knockdown resistance mutations confers high resistance to deltamethrin in Culex quinquefasciatus by Saowanee Chamnanya, Benyapa Kiddela, Jassada Saingamsook, Woottichai Nachaiwieng, Nongkran Lumjuan, Pradya Somboon, Jintana Yanola

“…This study aimed to investigate the expression levels of cytochrome P450 genes and detect mutations of the vgsc gene in deltamethrin-resistant Cx. quinquefasciatus populations in Thailand. …”
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Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens by Ricardo Vieira, Maria José Simões, Susana Carmona, Conceição Egas, Carlos Faro, Américo Figueiredo

“…DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing. …”
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Samuel Guicheteau, La révolution des ouvriers nantais. Mutation économique, identité sociale et dynamique révolutionnaire (1740-1815) by Maurice Genty

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Human lineage mutations regulate RNA-protein binding of conserved genes NTRK2 and ITPR1 involved in human evolution by Min Zhao, Weichen Song, Shunying Yu, Wenxiang Cai, Guan Ning Lin

“…These genes also carried excess damaging coding mutations that caused neurodevelopmental disorders, ataxia and schizophrenia. …”
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Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNAThr Gene by Ke Li, Lijun Wu, Jianjiang Liu, Wei Lin, Qiang Qi, Tianlan Zhao

“…This mutation has been implicated to be important for tRNA identity and stability. …”
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Long Term Survival and Continued Complete Response of Vemurafenib in a Metastatic Melanoma Patient with BRAF V600K Mutation by K. Sahadudheen, Md. Rafiqul Islam, M. Iddawela

“…BRAF kinase inhibitors such as Vemurafenib have shown improvement in overall survival, progression-free survival, and response rates in patients with metastatic melanoma with BRAF V600K mutation. However, there were no cases of complete remission reported in patients with V600K mutation before. …”
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A Case of Non-Small Cell Lung Cancer with Mutually Exclusive <i>EGFR</i> and <i>KRAS</i> Mutations by Abhimanyu Tushir, Israh Akhtar, Anjali Seth

“…Historically, <i>EGFR</i> and <i>KRAS</i> mutations were believed to be mutually exclusive. However, over the past few years, there have been emerging case reports showing the co-existence of both mutations in a single case. …”
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Activating Mutation (V617F) in the Tyrosine Kinase JAK2 is Absent in Locally-Confined or Castration-Resistant Prostate Cancer by Lei Gu, Xian-Hua Zhu, Tapio Visakorpi, Kalle Alanen, Tuomas Mirtti, Tina Bocker Edmonston, Marja T. Nevalainen

“…Recently, a single gain-of-function point mutation of JAK2 was described in myeloproliferative diseases leading to constitutive Jak2 kinase activity, subsequent Stat5a/b activation and involvement of V617F Jak2 in the pathogenesis of myeloproliferative disorders.…”
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Paying attention to the SARS-CoV-2 dialect : a deep neural network approach to predicting novel protein mutations by Magdalyn E. Elkin, Xingquan Zhu

“…Abstract Predicting novel mutations has long-lasting impacts on life science research. …”
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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family by Pedro Marques, Sayka Barry, Amy Ronaldson, Arla Ogilvie, Helen L. Storr, Peter J. Goadsby, Michael Powell, Mary N. Dang, Harvinder S. Chahal, Jane Evanson, Ajith V. Kumar, Joan Grieve, Márta Korbonits

“…Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). …”
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Regards sur le Mozambique contemporain by Fabrice Folio

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Using partially shared radiomics features to simultaneously identify isocitrate dehydrogenase mutation status and epilepsy in glioma patients from MRI images by Yida Wang, Ankang Gao, Hongxi Yang, Jie Bai, Guohua Zhao, Huiting Zhang, Yang Song, Chenglong Wang, Yong Zhang, Jingliang Cheng, Guang Yang

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On a data model associated with antitrust behaviors by Weiguang Zhou, Guangxin Wang, Jixiao Lu, Hongxin Ruan, Jun Wang, Rui Zhang

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