The anti-sigma factor TcdC modulates hypervirulence in an epidemic BI/NAP1/027 clinical isolate of Clostridium difficile. by Glen P Carter, Gillian R Douce, Revathi Govind, Pauline M Howarth, Kate E Mackin, Janice Spencer, Anthony M Buckley, Ana Antunes, Despina Kotsanas, Grant A Jenkin, Bruno Dupuy, Julian I Rood, Dena Lyras

“…This study provides evidence that a naturally occurring mutation in a negative regulator of toxin production, the anti-sigma factor TcdC, is an important factor in the development of hypervirulence in epidemic C. difficile isolates, presumably because the mutation leads to significantly increased toxin production, a contentious hypothesis until now. …”
Get full text

Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome by Chandrika Jayakanthi Subasinghe, Noel Somasundaram, Pathmanathan Sivatharshya, Lalana Devi Ranasinghe, Márta Korbonits

“…Genetic analysis revealed that one was heterozygous for a nonsense mutation and other for missense mutation in MEN1 gene. …”
Get full text

The southern house mosquito Culex quinquefasciatus in Abu Dhabi, UAE, is developing resistance to deltamethrin insecticide by Amgd sayed Ali, Asim Iqbal, Tamilarasan Kamalanathan, Antony Raj Gnanaprakasam, Sabu Shajahan, Mohammad Hamad Alsadeq, Mohamed Mahmood Al Marzooqi, Mohamad Hamdan, Mohammad Ali Al-Deeb

“…We detected the mutation and found the kdr allele in all the sampled locations. …”
Get full text

Evaluation of Antiplatelet/Anticoagulant Use and Prognosis in Primary Thrombophilia Patients with COVID-19 by Cenk Sunu, Alper Erkin, Ayşe Çelik Yılmaz

“…The most common gene mutation in the study was plasminogen activator inhibitor-1 (PAI-1) mutation, and there was no statistically significant difference between PAI-1 gene mutation and new thrombotic events (p=0.988). …”
Get full text

Characterization of a novel covS SNP identified in Australian group A Streptococcus isolates derived from the M1UK lineage by Johanna Richter, Amanda J. Cork, Yvette Ong, Nadia Keller, Andrew J. Hayes, Mark A. Schembri, Amy V. Jennison, Mark R. Davies, Kate Schroder, Mark J. Walker, Stephan Brouwer

“…Such mutations have not been fully characterized in the M1UK lineage. …”
Get full text

On the causal connection in lifespan correlations and the possible existence of a ‘number of life’ at molecular level by Andrés Escala

“…We find that the dataset of mammals studied is consistent with a direct proportionality between the somatic mutation rate and the respiration frequency, being a tentative link between both invariant numbers.…”
Get full text

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations by Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura

“…We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.…”
Get full text

Application of Fuzzy Immune Algorithm and Soft Computing in the Design of 2-DOF PID Controller by Ning Ding, Priti Prabhakar, Anita Khosla, Vishal Jagota, Edwin Ramirez-Asis, Bhupesh Kumar Singh

“…To solve the difficulty in selecting the crossover probability and mutation probability in genetic algorithms, a fuzzy immune algorithm based on adaptive estimation of crossover probability and mutation probability in a fuzzy reasoning system is proposed, and it is used in the parameter optimization design of a two-degree-of-freedom PID controller. …”
Get full text

Analysis of Water and Sediment Characteristics in Rongjiang River Basin by AO Liangting

“…The Rongjiang River Basin is a tidal reach,where the movement of water and sediment is complicated.Over the years,sediment deposition and soil erosion are serious.Hence,the study of the variations of water and sediment in the Rongjiang River Basin is of great significance for water area management and river management in the basin.Upon the comprehensive analysis of the water and sediment data of Dongqiaoyuan Hydrological Station in the mainstream of Rongjiang River from 1953 to 2017,the trend analysis of the water and sediment sequence is carried out by the moving average method and Mann-Kendall trend test.The mutation analysis is made by the Mann-Kendall mutation test and ordered cluster analysis.Meanwhile,Morlet wavelet analysis is used to discuss the periodicity of the water and sediment process.The characteristics,variations,and influencing factors of water and sediment in the Rongjiang River Basin are obtained to provide theoretical support and a digital model for further study of the characteristics of water and sediment in the basin.…”
Get full text

Nucleic Acid-Based Therapy Approaches for Huntington's Disease by Tatyana Vagner, Deborah Young, Alexandre Mouravlev

“…Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. …”
Get full text

Improved Whale Optimization Algorithm for Solving Constrained Optimization Problems by Gui-Ying Ning, Dun-Qian Cao

“…First, the standard WOA is improved from the three aspects of initial population, convergence factor, and mutation operation. At the same time, Gaussian mutation is introduced. …”
Get full text

Bayesian network structure learning algorithm based on hybrid binary salp swarm-differential evolution algorithm by Bin LIU, Ruixing FAN, Haoran LIU, Liyue ZHANG, Haiyu WANG, Chunlan ZHANG

“…Aiming at the disadvantages of Bayesian network structure learned by heuristic algorithms,which were trapping in local minimums and having low search efficiency,a method of learning Bayesian network structure based on hybrid binary slap swarm-differential evolution algorithm was proposed.An adaptive scale factor was used to balance local and global search in the swarm grouping stage.The improved mutation operator and crossover operator were taken into salp search strategy and differential search strategy respectively to renew different subswarms in the update stage.Two-point mutation operator was adopted to improve the swarm’s diversity in the stage of merging of subswarms.The convergence analysis of the proposed algorithm demonstrates that best structure can be found through the iterative search of population.Experimental results show that the convergence accuracy and efficiency of the proposed algorithm are improved compared with other algorithms.…”
Get full text

Acute Limb Ischemia in the Young: A Rare Case of Essential Thrombocytosis by Johanes Nugroho, Ruth Gunadi

“…Laboratory data revealed she had a platelet count reaching up to 1.38 mil/μL, with other blood profiles being normal. A JAK2 mutation examination was later performed and proved positive. …”
Get full text

Cuproptosis-Related Signature Predicts the Prognosis, Tumor Microenvironment, and Drug Sensitivity of Hepatocellular Carcinoma by Xiangjun Qi, Jiayun Guo, Guoming Chen, Caishan Fang, Leihao Hu, Jing Li, Chi Zhang

“…The mRNA transcriptome profiling data, somatic mutation data, and copy number gene level data of The Cancer Genome Atlas-Liver Hepatocellular Carcinoma project (TCGA-LIHC) were downloaded for subsequent analysis. …”
Get full text

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population by Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

“…Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese ARNSHL cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation.…”
Get full text

Savolitinib Induced Pathological Complete Response in Non-small Cell Lung Cancer with MET Amplification: A Case Report by Meng LU, Ran ZHANG, Baiwei LI, Haidi XU, Yongkuan GUO, Jian YOU, Bingsheng SUN

“…Mesenchymal-epithelial transition factor (MET) gene mutation is a large class of mutations commonly seen in non-small cell lung cancer (NSCLC). …”
Get full text

Analysis of Amino Acid Changes in the Fusion Protein of Virulent Newcastle Disease Virus from Vaccinated Poultry in Nigerian Isolates by Olubukola O. Funsho-Sanni, Elijah E. Ella, Lawal D. Rogo, Olufunsho S. Sanni, Helen I. Inabo, Sodangi A. Luka, Ismaila Shittu

“…Mutation in this A2 antigenic epitope has been reported to induce escape mutation to monoclonal antibodies generated using the NDV LaSota strain. …”
Get full text

Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant by Zhen Li, Zhen Li, Changming Han, Hongwei Zhao

“…The identification of this novel mutation enriches the spectrum of known SLC6A1 gene variants.…”
Get full text

Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granul... by Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer

“…A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. …”
Get full text

Huntington’s disease modeling on HEK293 cell line by D. V. Sharipova, T. B. Malankhanova, A. A. Malakhova

“…Our results indicate that the mutation in the first exon of HTT gene affects not only neurons, but also other types of cells, and HEK293 cell clones bearing the mutation can serve as in vitro model for studying some mechanisms of HTT functioning.…”
Get full text