An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation by Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu

“…A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. …”
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Faking the News: Intentional Guided Variation Reflects Cognitive Biases in Transmission Chains Without Recall by Stubbersfield Joseph, Tehrani Jamshid, Flynn Emma

“…Two potential forms of mutation in cultural evolution have been identified: ‘copying error’, where learners make random modifications to a behaviour and ‘guided variation’ where learners makes non-random modifications. …”
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Paroxysmal Nonkinesigenic Dyskinesia with Tremor by Robert Fekete

“…Genetic diagnosis was confirmed via A7V mutation of the myofibrillogenesis regulator (MR-1) gene. …”
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The Domestic Cat as a Large Animal Model for Characterization of Disease and Therapeutic Intervention in Hereditary Retinal Blindness by Kristina Narfström, Koren Holland Deckman, Marilyn Menotti-Raymond

“…The first model is the autosomal recessive, slowly progressive, late-onset, rod-cone degenerative disease caused by a mutation in the CEP290 gene. The second model addressed in this paper is the autosomal dominant early onset rod cone dysplasia, putatively caused by the mutation found in the CRX gene. …”
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Q-Learning-Driven Butterfly Optimization Algorithm for Green Vehicle Routing Problem Considering Customer Preference by Weiping Meng, Yang He, Yongquan Zhou

“…In order to improve the overall optimization ability of the algorithm, enhance the optimization accuracy, and prevent the algorithm from falling into a local optimum, the Gaussian mutation mechanism with dynamic variance was introduced, and the migration mutation mechanism was also used to enhance the population diversity of the algorithm. …”
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A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever by Sevket Ozkaya, Saliha E. Butun, Serhat Findik, Atilla Atici, Adem Dirican

“…The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L) gene mutation in both our patient and his grandchild. …”
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Rapid Evaluation of Mutant Exon-11 in c-kit in a Recurrent MCT Case Using CD117 Immunocytofluorescence, FACS-Cell Sorting, and PCR by Dettachai Ketpun, Achariya Sailasuta, Prapruddee Piyaviriyakul, Nattawat Onlamoon, Kovit Pattanapanyasat

“…Therefore, fine-needle aspiration (FNA) was performed to collect the MCT cells and these cells were submitted to our laboratory for the detection of internal-tandem-duplicated (ITD) mutation of exon-11 in c-kit, prior to the treatment. …”
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A Hybrid Genetic Algorithm with Tabu Search Using a Layered Process for High-Order QAM in MIMO Detection by Taehyoung Kim, Gyuyeol Kong

“…In the <i>mutation</i> process, the ’tabu’ concept is also employed to prevent the repeated search of the same area. …”
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Motion-Genetic Testing is Useful in the Diagnosis of Nonhereditary Pancreatic Conditions: Arguments Against the Motion by Jonathan A Cohn

“…Thus, the risk of pancreatitis is greatest among individuals who are CFTR compound heterozygotes and who also have the PSTI mutation. Nonetheless, most people with CFTR and PSTI mutations do not develop pancreatitis. …”
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Metabolic Analysis of the Mode of Action and Mode of Resistance for Novobiocin in Staphylococcus aureus by Weile Xie, Dan Luo, Zhe Wang

“…Through whole genome sequencing, three mutations of S. aureus in gyrB, potB, and fpgS were identified. …”
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Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy by Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat

“…The diagnosis was confirmed by identifying a compound heterozygous of a novel frameshift, c.606dup (p.Ala203CysfsTer9), a mutation in exon 4, and a missense, c.956C > T (p.Pro319Leu), a mutation in exon 7 of the CAPN3 gene, via whole exome sequencing. …”
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Clinical and Functional Characteristics of a Novel KLF11 Cys354Phe Variant Involved in Maturity-Onset Diabetes of the Young by Yujing Sun, Jingru Qu, Jing Wang, Ruxing Zhao, Chuan Wang, Li Chen, Xinguo Hou

“…Background. Mutations in human KLF11 may lead to the development of maturity-onset diabetes of the young 7 (MODY7). …”
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Proinflammatory Cytokine IL-6 and JAK-STAT Signaling Pathway in Myeloproliferative Neoplasms by Vladan P. Čokić, Olivera Mitrović-Ajtić, Bojana B. Beleslin-Čokić, Dragana Marković, Marijana Buač, Miloš Diklić, Nada Kraguljac-Kurtović, Svetozar Damjanović, Pavle Milenković, Mirjana Gotić, Puri K. Raj

“…Regarding laboratory data, leukocytosis has been observed in polycythemia vera (PV) and JAK2V617F mutation positive versus negative primary myelofibrosis (PMF) patients. …”
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The transcription factor dFOXO controls the expression of insulin pathway genes and lipids content under heat stress in <i>Drosophila melanogaster</i> by M. A. Eremina, P. N. Menshanov, O. D. Shishkina, N. E. Gruntenko

“…We found that neither mutation influenced dfoxo expression and its uprise under short-term heat stress, but both of them disrupted the stress response of the dilp6 and dInR genes. …”
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Promoter Methylation Precedes Chromosomal Alterations in Colorectal Cancer Development by Sarah Derks, Cindy Postma, Peter T. M. Moerkerk, Sandra M. van den Bosch, Beatriz Carvalho, Mario A. J. A. Hermsen, Walter Giaretti, James G. Herman, Matty P. Weijenberg, Adriaan P. de Bruïne, Gerrit A. Meijer, Manon van Engeland

“…This study aimed to explore the timing of promoter methylation and relationship with mutations and chromosomal alterations in colorectal carcinogenesis. …”
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Insights into Omicron: Genomic Characterization and Inpatient Risk Assessment at Single Tertiary Hospital in Indonesia by Turbawaty DK, Komala DR, Andriyoko B

“…The spike gene had the highest frequency, accounting for 28.8% out of the 532 types of mutations identified. In BA.5.2 lineage, 97.01, 92.53, and 100% had L452R mutation, F486V mutation, and H69/V70 deletion, respectively. …”
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Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

“…Methods We thoroughly examined the clinical features and genetic mutations evident in two patients with biallelic mutations in the DNAJC12 gene. …”
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Comparative genomics analysis of the reason for 12C6+ heavy-ion irradiation in improving Fe3O4 nanoparticle yield of Acidithiobacillus ferrooxidans by Jiani Yang, Shuang Zhang, Lirong Geng, Dan Zhao, Siyu Xing, Xinyue Ji, Lei Yan

“…Comparative genome analysis detected 14 mutation sites, causing six synonymous mutations, one missense mutation, and one nonsense mutation. …”
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Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis by Moriah Forster, Timothy Moran, Anne Beaven, Timothy Voorhees

“…On further workup, the patient was ultimately found to have a homozygous intrionic mutation in ZAP-70. This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. …”
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The first recorded case of herbicide resistance in Estonia: common chickweed (Stellaria media) resistant to sulfonylureas by Silvia Pihu, Andres Mäe, Hannah Joy Vivian Kennedy, Katerina Hamouzova

“…Molecular analysis identified a mutation at position 574 in the ALS gene, where tryptophan was replaced by leucine. …”
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