Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

“…A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. …”
Get full text

Improving the N-glycosylation occupancy of plant-produced IgG1 by engineering the amino acid environment at Asn297 by Kathrin Göritzer, Valentina Ruocco, Ulrike Vavra, Shiva Izadi, Omayra C. Bolaños-Martínez, Thareeya Phetphoung, Nuttapat Pisuttinusart, Waranyoo Phoolcharoen, Richard Strasser

“…This was achieved through an amino acid mutation near the conserved glycosylation site in the CH2 domain of the heavy chain. …”
Get full text

A depth-controlled and energy-efficient routing protocol for underwater wireless sensor networks by Umesh Kumar Lilhore, Osamah Ibrahim Khalaf, Sarita Simaiya, Carlos Andrés Tavera Romero, Ghaida Muttashar Abdulsahib, Poongodi M, Dinesh Kumar

“…In the proposed energy-efficient routing protocol, an existing genetic algorithm is enhanced by adding an encoding strategy, a crossover procedure, and an improved mutation operation that helps determine the nodes. …”
Get full text

Prediction of Fracture Evolution and Groundwater Inrush from Karst Collapse Pillars in Coal Seam Floors: A Micromechanics-Based Stress-Seepage-Damage Coupled Modeling Approach by Yinlong Lu, Bingzhen Wu, Mengqi He, Lianguo Wang, Dan Ma, Zhen Huang

“…Groundwater inrush from a KCP is a gradual process instead of a mutation process. A reduction in the distance between the working face and a KCP and increases in the confined hydraulic pressure and the initial water-conducting height of the KCP can significantly increase the risk of groundwater inrush from the KCP.…”
Get full text

DNA methylation of ACADS promotes immunogenic cell death in hepatocellular carcinoma by Ze Qian, Yifan Jiang, Yacong Wang, Yu Li, Lin Zhang, Xiaofeng Xu, Diyu Chen

“…Methylation of ACADS MS-2 was associated with worse survival, and mutation of MS-2 increased ACADS mRNA levels in five HCC cell lines. …”
Get full text

Targeted Therapies Compared to Dacarbazine for Treatment of BRAFV600E Metastatic Melanoma: A Cost-Effectiveness Analysis by Vanessa Shih, Renske M. ten Ham, Christine T. Bui, Dan N. Tran, Jie Ting, Leslie Wilson

“…Two BRAFV600E targeted therapies, dabrafenib and vemurafenib, have received US approval for treatment of metastatic melanoma in BRAFV600E patients, a mutation that affects ~50% of patients. We evaluated the cost-effectiveness of BRAF inhibitors and traditional chemotherapy for treatment of metastatic melanoma. …”
Get full text

A Micro-RNA Connection in BRafV600E-Mediated Premature Senescence of Human Melanocytes by Gang Ren, Jingwei Feng, Ila Datar, Aaron H. Yeung, Srinivas Vinod Saladi, Yongqing Feng, Ivana de la Serna, Kam C. Yeung

“…The activating mutation of BRaf will also induce the cells to senesce. …”
Get full text

Transcriptomic Analysis of Pathogenicity Genes in Sclerotinia sclerotiorum Affecting Brassica napus by Hengameh Taheri, Mohamad Hamed Ghodoum Parizipour

“…Also, the possible effects of mutation pressure and natural selection in shaping CUB were determined. …”
Get full text

Comparative Analysis of Roadway Reinforcement Effects Based on Fluid-Solid Coupling in the Fractured Zone of Water-Rich Fault by Jihua Zhang, Yun Dong, Yadong Chen, Yang Jiang, Huasheng Sun, Yuqing Fan, Chun Wang

“…The permeability coefficient in the fractured zone is the largest, and the mutation rate at the fault plane is faster. Bolting not only reduces the permeability coefficient of the surrounding rock that is 1/10 of the beam support but also prevents the roof fissure water inrushing the roadway and the surrounding rock of the floor, while also causing the pore-water pressure to decrease, even reduce to zero, in front of the working face and floor. …”
Get full text

An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus by Homa Noori, Majid Rajabian, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani

“…DNA extraction followed by tetra amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR) as a genotyping method. …”
Get full text

Exploration of different quantitative polymerase chain reaction-based genotyping methods to distinguish Apcmin/+ mice from wildtype mice. by Yuting Sun, Tingyu Zhou, Silin Ye, Effie Yin Tung Lau, Yao Zeng, Jessie Qiaoyi Liang

“…Apcmin/+ mice, which harbour a germline Apc mutation (g.2549T>A) associated with multiple intestinal neoplasms, are extensively employed in colorectal cancer research. …”
Get full text

Differences in the genomic profiles of cell‐free DNA between plasma, sputum, urine, and tumor tissue in advanced NSCLC by Zhen Wu, Zhen Yang, Chun Sun Li, Wei Zhao, Zhi Xin Liang, Yu Dai, Qiang Zhu, Kai Ling Miao, Dong Hua Cui, Liang An Chen

“…In conclusion, sputum cfDNA can be considered as an alternative medium to liquid biopsy, while the complementarity of genomic profiles in cfDNA among plasma, sputum, and urine was beneficial to detect more diver genes alterations and improve the utility of liquid biopsy in advanced NSCLC (Liquid Biopsy for Detection of Driver Mutation in NSCLC; NCT02778854).…”
Get full text

In Vivo Resistance to Ceftolozane/Tazobactam in Pseudomonas aeruginosa Arising by AmpC- and Non-AmpC-Mediated Pathways by Erik Skoglund, Henrietta Abodakpi, Rafael Rios, Lorena Diaz, Elsa De La Cadena, An Q. Dinh, Javier Ardila, William R. Miller, Jose M. Munita, Cesar A. Arias, Vincent H. Tam, Truc T. Tran

“…Whole genome sequencing identified mutations in AmpC including the mutation (V213A) and a deletion of 7 amino acids (P210–G216) in the Ω-loop. …”
Get full text

Ship Formation and Route Optimization Design Based on Improved PSO and D-P Algorithm by Peilong Xu, Dan Lan, Haolin Yang, Shengtian Zhang, Hyeonseok Kim, Incheol Shin

“…The particle swarm algorithm introduces dynamic adaptive parameter adjustment and the cross mutation strategy of genetic algorithm, while the Douglas-Peucker algorithm integrates density-based noise application spatial clustering algorithm to improve model performance. …”
Get full text

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome by Lin-Lin Wang, Wei Zhou, Wei Zhao, Zhi-Qing Tian, Wei-Fan Wang, Xiao-Fang Wang, Tong-Xin Chen

“…We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. …”
Get full text

Combination of Gilbert's syndrome and gastrointestinal diseases by G. M. Dubrovina, O. K. Botvinyev, A. I. Kolotilina

“…The prevalence in European countries of reaches 9 %. Mutation of encoding gene — A (TA) 7TAA A is the principal cause of insufficiency of this enzyme, however development of clinical syndrome and severity of symptoms is related to other factors as well (male gender, additional genetic mutations, et al.). …”
Get full text

Morphophysiological alterations caused by insertional mutagenesis of contactin 5 (Cntn5) gene in transgenic mice by A. V. Smirnov, N. A. Feofanova, G. V. Kontsevaya, M. V. Anisimova, I. I. Kovrigin, I. A. Serova, M. P. Moshkin, L. A. Gerlinskaya, N. R. Battulin

“…We evaluated core parameters of lipid metabolism and heart activity in mice homozygous and heterozygous for Cntn5 mutation using wild- type animals as control. Our results uncovered that homozygous mutant mice have lower body weight than controls and that it is caused by slower accumulation of fat tissue. …”
Get full text

The rapid rise of SARS‐CoV‐2 Omicron subvariants with immune evasion properties: XBB.1.5 and BQ.1.1 subvariants by Danyi Ao, Xuemei He, Weiqi Hong, Xiawei Wei

“…This review provides a comprehensive overview of the epidemiological features, spike mutations, and immune evasion of BQ.1 and XBB lineages. …”
Get full text

In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder by Kübra Çoruh Kınalı, Ebru Özkan Oktay, Mesut Karahan

“…This data served as input for predictions, which were carried out using different computational tools like SIFT, PolyPhen-2, SNPs&GO, PROVEAN, MutationAssessor, PhD-SNP, PANTHER, SNAP-2, Meta-SNP, I-Mutant 2.0, MUpro, and Project HOPE. …”
Get full text

Improving the binding affinity of plastic degrading cutinase with polyethylene terephthalate (PET) and polyurethane (PU); an in-silico study by Deves Sabari V L, Gokulnath Rajmohan, Roshine S B, Srivaishnavi S, Kishore Nagasubramanian, Senthil Kumar G, Ponnusami Venkatachalam

“…In this work, unconserved regions of cutinase were identified as potential mutation sites to enhance binding efficiency. In-silico Alanine Scanning Mutagenesis (ASM) and Site Saturation Mutagenesis (SSM) were performed as screening tests to find variants of cutinase with better docking scores for both ligands, specifically S136D, N28M, and S136Q. …”
Get full text