Inactivation of the CMAH gene and deficiency of Neu5Gc play a role in human brain evolution by Yuxin Liu, Jinhong Li, Qicai Liu

“…These missing genes might be the key to the evolution of humans’ unique cognitive skills. An inactivation mutation in CMP-N-acetylneuraminic acid hydroxylase (CMAH) was the result of natural selection. …”
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Risk Stratification and Adjuvant Chemotherapy for High‐Risk Stage IA Lung Adenocarcinoma: The Unmet Needs by Chen Shen, Haoran Liu, Bofei Li, Jiaming Wang, Yiyang Wang, Feichao Bao, Zhitao Gu, Wentao Fang

“…Testing rates for EGFR mutation and ALK fusion among high‐risk patients were only 52.4% and 43.9%, respectively, while mutation rates reached up to 55.7% and 9.4%, respectively. …”
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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

“…Furthermore, one family demonstrated a compound-heterozygous double mutation, while another carried a type “2 + 0” mutation alongside a point mutation. …”
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Role of Prothrombin and Methylenetetrahydrofolate Reductase Gene Polymorphisms as well as Thrombophilia Markers, as Risk Factors for Unexplained Recurrent Miscarriage: A Case-Contr... by Zeinab Ahmed Abd Elhameed, Omar M Shaaban, Hanan G Abd Elazeem, Azza Abouelfadle, Tarek Farghaly, Ghada Mahran, Mohamed Ismail Seddik

“…MTHFRC677T gene showed C/T mutation in 33.3% of group I and 32.2% of group II, while T/T mutation was detected in 12.8%of group I and 8.9% of the group II. …”
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Protracted Clonal Trajectory of a JAK2 V617F-Positive Myeloproliferative Neoplasm Developing during Long-Term Remission from Acute Myeloid Leukemia by Stephen E. Langabeer, Karl Haslam, Maria Anne Smyth, John Quinn, Philip T. Murphy

“…Alternatively, both malignancies possibly evolved from a common precursor defined by a predisposition mutation with divergent evolution into MPN through acquisition of the JAK2 V617F and AML through acquisition of different mutations. …”
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Differential Analysis of Genetic, Epigenetic, and Cytogenetic Abnormalities in AML by Mirazul Islam, Zahurin Mohamed, Yassen Assenov

“…Combining the methylation and mutation data reveals three distinct patient groups and four clusters of genes. …”
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Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement by Georgios Koutsis, Georgia Karadima, Paraskewi Floroskoufi, Maria Raftopoulou, Marios Panas

“…We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. …”
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Detecting Communities in Complex Networks Using an Adaptive Genetic Algorithm and Node Similarity-Based Encoding by Sajjad Hesamipour, Mohammad Ali Balafar, Saeed Mousazadeh

“…Besides the fact that the proposed encoding can avoid meaningless mutations or disconnected communities, we show that the new initial population generation function and the new adaptive mutation function can improve the convergence time of the algorithm. …”
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Prediction of Chaotic Time Series Based on BEN-AGA Model by LiYun Su, Fan Yang

“…We design the dynamic crossover probability and mutation probability to control the crossover process and the mutation process, and the optimal parameters are selected through the fitness function to evaluate the chromosome. …”
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M694V gene polymorphism may not contribute to the pathogenesis of reactive arthritis in the North Indian population by Anamika Kumari Anuja, Koshy Nitin Thomas, Mantabya Kumar Singh, Ashish Jacob Mathew, Vikas Agarwal, Latika Gupta

“…All 49 patients of adult and juvenile ReA were negative for the M694V mutation. Conclusions: This is the first study assessing the prevalence of MEFV gene mutation in SpA in India. …”
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Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation by Sylvie Hermouet, Edith Bigot-Corbel, Betty Gardie

“…These observations suggested that part of the inflammation observed in patients with JAK2-mutated MPNs may not be the consequence of JAK2 mutation. …”
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Molecular Characterization of Antibiotic Resistance and Genetic Diversity of Klebsiella pneumoniae Strains by Bahareh Arabzadeh, Zeynab Ahmadi, Reza Ranjbar

“…PCR and sequencing detected mutation in the gyrA gene in 51% of quinolone-resistant K. pneumoniae. …”
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Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

“…It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). …”
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Genotypic Investigation of Clostridium difficile in Prince Edward Island by H Martin, LP Abbott, DE Low, B Willey, M Mulvey, J Scott Weese

“…Three different ribotypes, all NAP1, toxinotype III strains, had a frameshift mutation in the tcdC gene (Δ117), while one isolate (ribotype 078, NAP4, toxinotype V) had a truncating mutation (C184T) in the tcdC gene.…”
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Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports by Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa

“…Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. …”
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Evolutionary Explanations of the “Actuarial Senescence in the Wild” and of the “State of Senility” by Giacinto Libertini

“…Only the theory attributing an adaptive value to IMICAW allows an evolutionary explanation for it and for the aforesaid inverse correlation, while the other three theories (“mutation accumulation”, “antagonistic pleiotropy”, and “disposable soma” th.) even predict a positive correlation.Afterwards, the same theories are tested as possible explanations for the “state of senility”[3], namely the deteriorated state of individuals in artificially protected conditions (captivity, civilization, etc.) at ages rarely or never observable in the wild. …”
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ER Stress and Iron Homeostasis: A New Frontier for the UPR by Susana J. Oliveira, Maria de Sousa, Jorge P. Pinto

“…The C282Y mutation of HFE accounts for the majority of cases of the iron overload disease Hereditary Hemochromatosis (HH). …”
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Marker-Assisted Selection for Recognizing Wheat Mutant Genotypes Carrying HMW Glutenin Alleles Related to Baking Quality by Mohammad Javad Zamani, Mohammad Reza Bihamta, Behnam Naserian Khiabani, Zahra Tahernezhad, Mohammad Taher Hallajian, Marzieh Varasteh Shamsi

“…To realize the effect of mutation, seed storage proteins were measured. It showed that mutation had effect on the amount of seed storage protein on the mutant seeds (which showed polymorphism).…”
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Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder by Syouichi Katayama, Noriyuki Sueyoshi, Tetsuya Inazu, Isamu Kameshita

“…Because CDKL5 mutations identified in patients with CDD cause enzymatic loss of function, CDKL5 catalytic activity is likely strongly associated with the disease. …”
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Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss by Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang

“…Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. …”
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