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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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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It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer by Patsy W. P. Lee, Scott W. Strum, Elena Tsvetkova

“…(Tyr2215Thrfs∗14) frameshift mutation and somatic GNAS 2531G>A p.(Arg844His) mutation. …”
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The Role of the IL-20 Subfamily in Glaucoma by Mary K. Wirtz, Kate E. Keller

“…In particular, our lab recently identified a T104M mutation in IL-20 receptor-B (IL-20RB) in primary open angle glaucoma patients from a large pedigree. …”
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Simulation Study of Swarm Intelligence Based on Life Evolution Behavior by Yanmin Liu, Ying Bi, Changling Sui, Yuanfeng Luo, Zhuanzhou Zhang, Rui Liu

“…Additionally, PSO is a random swarm intelligence algorithm with the genetic and sociological property, so we embed the improved mutation and crossover operation to particle swarm optimization (PSO) and designed DNA-PSO algorithm to optimize single and multiobjective optimization problems. …”
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An Improved Feedforward-Robust Algorithm for Active Vibration Control of Helicopter Maneuver Flight by Yifan Qin, Yang Lu, Huiyu Yue

“…To solve the problem of secondary path mutation and external disturbance abrupt changes during helicopter maneuver flight, the previous research proposed a hybrid active vibration control law. …”
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A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge by Hamza Hashmi, Drew Murray, John Greenwell, Marwan Shaikh, Soumit Basu, Maxwell Krem

“…Patients who have the BRAF V600E mutation are treated first line with vemurafenib. For those without the mutation with symptomatic ECD, conventional or PEGylated interferon alpha is recommended. …”
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Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency by Saddaf Ayub, Abeerah Zainub, Nida Shafi, Zara Khalid Khan, Lubna Siddique, Syed Irfan Raza

“…The mutation leads to Artemis deficiency T-/B-/NK+ type of SCID. …”
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A new efficient genetic algorithm-Taguchi-based approach for multi-period inventory routing problem by Amin Farahbakhsh, Amir Saman Kheirkhah

“…The algorithm parameters, including crossover and mutation rates, population size, number of iterations, and selection pressure, are fine-tuned using the Taguchi method. …”
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Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? by Jean-François Viallard, Marie Parrens, Frédéric Rieux-Laucat

“…The heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. …”
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Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report by Şule Çalışkan Kamış, Begül Yağcı

“…Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease. …”
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