Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis by Joyce Moore, Jennifer Klowak, Gloria Isaza, Steven Arora, Vladimir Belostotsky, Nina Stein, Rahul Chanchlani

“…We report the first case of AION in a 2-year 11-month-old child receiving chronic hemodialysis secondary to polycystic kidney disease from a phosphomannomutase 2 gene mutation. This case highlights the consideration for frequent blood pressure monitoring and ophthalmic screening in a certain cohort of children receiving chronic dialysis.…”
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Methodology for identifying the socio-economic genome on the commodity market for sugar production by D. Yu. Zhmurko

“…New patterns in the displacement (mutation) of the cyclic genome of the world sugar production are revealed. …”
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Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome by Nasrollah Maleki, Bahman Bashardoust, Manouchehr Iranparvar Alamdari, Zahra Tavosi

“…Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. …”
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Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration by Natalie Diaz

“…Genetic testing confirmed a homozygous missense mutation consistent with the diagnosis of PKAN. Conclusion. …”
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Allgrove syndrome in endocrinology: Difficulties of diagnosis and treatment features. Case report by Uliana V. Buyvalenko, Anna R. Levshina, Anna K. Eremkina, Kseniya A. Komshilova, Nadezhda M. Platonova

“…Genetic analysis and detection of the AAAS gene mutation is the main step in the diagnosis of the syndrome. …”
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Comparative Glycopeptide Analysis for Protein Glycosylation by Liquid Chromatography and Tandem Mass Spectrometry: Variation in Glycosylation Patterns of Site-Directed Mutagenized... by Young Hye Hahm, Sung Ho Hahm, Hyoun Young Jo, Yeong Hee Ahn

“…Furthermore, the comparative analysis of a mutagenized rAb glycoprotein proved that a single amino acid mutation in the Fc portion of the antibody molecule caused increased variations in glycosylation patterns. …”
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Maturity-Onset Diabetes of Young Type 5: Diabetes with Extrapancreatic Features by Adnan Haider, Oksana Symczyk, Ayesha Hassan, Muhammad Atif Khan, Inderpreet Madahar, Dylan Holland

“…Because of the family history of diabetes and morphologic renal abnormalities at young ages on the maternal side of the family, our patient was evaluated for maturity-onset diabetes of adult and was found to have HNF-1β mutation. Conclusion. This case highlights the importance of considering the diagnosis of maturity-onset diabetes of young and particularly MODY-5 in individuals with extrapancreatic features. …”
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Significance of Persistent Inflammation in Respiratory Disorders Induced by Nanoparticles by Yasuo Morimoto, Hiroto Izumi, Etsushi Kuroda

“…Chemical and physical damage are associated with point mutation by free radicals and double strand brake, respectively. …”
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The Effects of Different Representations on Static Structure Analysis of Computer Malware Signatures by Ajit Narayanan, Yi Chen, Shaoning Pang, Ban Tao

“…The continuous growth of malware presents a problem for internet computing due to increasingly sophisticated techniques for disguising malicious code through mutation and the time required to identify signatures for use by antiviral software systems (AVS). …”
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An Adaptive Hybrid Algorithm Based on Particle Swarm Optimization and Differential Evolution for Global Optimization by Xiaobing Yu, Jie Cao, Haiyan Shan, Li Zhu, Jun Guo

“…A novel adaptive hybrid algorithm based on PSO and DE (HPSO-DE) is formulated by developing a balanced parameter between PSO and DE. Adaptive mutation is carried out on current population when the population clusters around local optima. …”
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Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside by Rajeshwari D. Koilkonda, John Guy

“…Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA). Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC). …”
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Utility of Bruton’s Tyrosine Kinase Inhibitors in Light Chain Amyloidosis Caused by Lymphoplasmacytic Lymphoma (Waldenström’s Macroglobulinemia) by Maroun Bou Zerdan, Jason Valent, Maria Julia Diacovo, Karl Theil, Chakra P. Chaulagain

“…All patients evaluated had the MYD88 mutation. This may explain the good response to BTK inhibitors therapy in our series. …”
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Multitask Oriented Virtual Resource Integration and Optimal Scheduling in Cloud Manufacturing by Zhen Cheng, Dechen Zhan, Xibin Zhao, Hai Wan

“…The genetic algorithm based on the real number matrix encoding is proposed. And crossover and mutation operation rules are designed for the real number matrix. …”
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DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood by Adrian Zammit, Deborah Grech Marguerat, Josephine Psaila, Alexander Attard

“…The majority of cases are due to a novel mutation. The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. …”
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Simultaneous Pose and Correspondence Estimation Based on Genetic Algorithm by Haiwei Yang, Fei Wang, Zhe Li, Hang Dong

“…And then each individual is modified (selection, crossover, and mutation) in current iterative process. Finally, the fittest individual is stochastically selected from the final population. …”
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The PRC2.1 subcomplex opposes G1 progression through regulation of CCND1 and CCND2 by Adam D Longhurst, Kyle Wang, Harsha Garadi Suresh, Mythili Ketavarapu, Henry N Ward, Ian R Jones, Vivek Narayan, Frances V Hundley, Arshia Zernab Hassan, Charles Boone, Chad L Myers, Yin Shen, Vijay Ramani, Brenda J Andrews, David P Toczyski

“…In addition to its core catalytic subunits, mutation of the PRC2.1 accessory protein MTF2, but not the PRC2.2 protein JARID2, rendered cells resistant to palbociclib treatment. …”
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Isolation of a tumor neoantigen specific CD8+ TCR from a skin biopsy of a vaccination site by Maria Paula Roberti, Pornpimol Charoentong, Yanhong Lyu, Marten Meyer, Stefan B. Eichmüller, Patrick Schmidt, Frank Momburg, Miray Cetin, Felix Hartmann, Nektarios A. Valous, Albrecht Stenzinger, Laura Michel, Peter Lichter, Andreas Schneeweiss, Verena Thewes, Carlo Fremd, Inka Zörnig, Dirk Jäger

“…T cells that recognize tumor-specific mutations are crucial for cancer immunosurveillance and in adoptive transfer of TILs or transgenic-TCR T cell products. …”
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Assessment of prognosis and responsiveness to immunotherapy in colorectal cancer patients based on the level of immune cell infiltration by Kaili Liao, Minqi Zhu, Lei Guo, Zijun Gao, Jinting Cheng, Bing Sun, Yihui Qian, Bingying Lin, Jingyan Zhang, Tingyi Qian, Yixin Jiang, Yanmei Xu, Qionghui Zhong, Xiaozhong Wang

“…The high-risk subgroup in our model exhibited elevated immune cell infiltration coupled with a higher tumor mutation burden, but the difference in response to immunotherapy was not significant compared to the low-risk group. …”
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Analysis of Nucleotide Alterations in the E6 Genomic Region of Human Papillomavirus Types 6 and 11 in Condyloma Acuminatum Samples from Brazil by Marina Carrara Dias, Bruna Stuqui, Paola Jocelan Scarin Provazzi, Cíntia Bittar, Natália Maria Candido, Renata Prandini Adum de Matos, Rodolfo Miglioli Badial, Caroline Measso do Bonfim, Patricia Pereira dos Santos Melli, Silvana Maria Quintana, José Antônio Cordeiro, Paula Rahal, Marilia de Freitas Calmon

“…Twelve samples were identified as the HPV6B3 variant, presenting the mutation (guanine) G474A (adenine), and one of them also showed the mutation (thymine) T369G. …”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. …”
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