Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticu... by Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman

“…Two induced pluripotent stem cell (hiPSC) lines from a patient carrying the common homozygous mutation c.3421C > T, p.Arg1141X in the ATP-binding cassette transporter gene (ABCC6; OMIM264800) were established and fully characterized. …”
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Gene expression of psychiatric disorder-related kinesin superfamily proteins (Kifs) is potentiated in alternatively activated primary cultured microglia by Suguru Iwata, Mitsuhiro Hyugaji, Yohei Soga, Momo Morikawa, Tetsuya Sasaki, Yosuke Takei

“…Furthermore, the microglia derived from a mouse line which possesses a mutation inducing truncated KIF17 indicated disrupted morphological phenotype of alternatively activated microglia. …”
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Targeting ceramide transfer protein sensitizes AML to FLT3 inhibitors via a GRP78-ATF6-CHOP axis by Xiaofan Sun, Yue Li, Juan Du, Fangshu Liu, Caiping Wu, Weihao Xiao, Guopan Yu, Xiaowei Chen, Robert Peter Gale, Hui Zeng

“…Here, we show that knocking down CERT inhibits the growth and promotes the apoptosis of AML cells carrying FLT3-ITD mutation. Combining CERT inhibitor with FLT3 inhibitor exhibits synergistic effects on FLT3-ITD mutated acute myeloid leukemia (AML) cells. …”
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Prolonged Remission in Metastatic Ano‐Rectal Malignant Melanoma With Single Agent Temozolomide by Anusha Mruthyunjaya Swamy, Deepak Sundriyal, Mayank Kapoor, Mridul Khanna, Ravi Hari Phulware, Kranthi Kumar Jandrasupalli, Ujjawal Shriwastav, Amit Sehrawat

“…Case Report We diagnosed a 55‐year‐old female with stage IV anorectal melanoma, BRAF V600 mutation negative. Owing to her poor performance status (PS) and non‐affordability of immunotherapy, after informed decision‐making, she was started on single agent, temozolomide. …”
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How Normal Is the Liver in Which the Inflammatory Type Hepatocellular Adenoma Develops? by Jing Han, Marius C. van den Heuvel, Hironori Kusano, Koert P. de Jong, Annette S. H. Gouw

“…IHCA contains either a mutation of gp130 or STAT3. Both mutations lead to a similar morphologic phenotype and to increased expression of C-reactive protein (CRP) and/or serum amyloid-A (SAA). …”
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Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature by Ryo Miyagi, Toshihiko Nishisho, Shinjiro Takata, Yoshimitsu Shimatani, Shunichi Toki, Koichi Sairyo

“…We hypothesize that degenerative changes occurring in adipose tissue during muscle atrophy can cause lipomatous neoplasms and moreover that the mutation of MD-related genes may lead to the proliferation of tumor cells or to malignancy.…”
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Computational problems of analysis of short next generation sequencing reads by R. te Boekhorst, F. M. Naumenko, N. G. Orlova, E. R. Galieva, A. M. Spitsina, I. V. Chadaeva, Y. L. Orlov, I. I. Abnizova

“…Finally this work presents identification of mutations (“Variant calling”) in sequencing data and its quality control.…”
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Pan-Cancer Analyses of the Tumor Microenvironment Reveal That Ubiquitin-Conjugating Enzyme E2C Might Be a Potential Immunotherapy Target by Guang-zhao Huang, Ze-qun Chen, Juan Wu, Ting-ru Shao, Chen Zou, Yi-long Ai, Xiao-zhi Lv

“…Furthermore, the gene expression profiles, mutation data, and survival data of 33 cancer types were obtained from UCSC Xena. …”
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A Case of Von Hippel–Lindau Disease with Bilateral Pheochromocytoma and Ectopic Hypersecretion of Intact Parathyroid Hormone in an Adolescent Girl by Rym Belaid, Ibtissem Oueslati, Melika Chihaoui, Meriem Yazidi, Wafa Grira, Fatma Chaker

“…Genetic testing revealed a mutation of the VHL gene. The patient underwent a bilateral adrenalectomy. …”
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Study of the effect of the introduction of mitochondrial import determinants into the gRNA structure on the activity of the gRNA/SpCas9 complex in vitro by E. G. Zakirova, Y. V. Vyatkin, N. A. Verechshagina, V. V. Muzyka, I. O. Mazunin, K. E. Orishchenko

“…The possible way to reduce adverse effects of the mutation is by shifting the level of heteroplasmy towards the wild-type mtDNA molecules. …”
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Modified Whale Optimization Algorithm for Solar Cell and PV Module Parameter Identification by Xiaojia Ye, Wei Liu, Hong Li, Mingjing Wang, Chen Chi, Guoxi Liang, Huiling Chen, Hailong Huang

“…In order to better balance the exploration and exploitation of WOA, we propose a novel modified WOA (MWOA) in which both the mutation strategy based on Levy flight and a local search mechanism of pattern search are introduced. …”
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Multiomic machine learning on lactylation for molecular typing and prognosis of lung adenocarcinoma by Mengmeng Hua, Tao Li

“…LRG mRNA and long non-coding RNA transcriptomes, epigenetic methylation data, and somatic mutation data from The Cancer Genome Atlas LUAD cohort were analyzed to identify lactylation cancer subtypes (CSs) using 10 multiomics ensemble clustering techniques. …”
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Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis by Katie Fox Hanson, Paul Birinyi, Ronald Walker, Constantine Raptis, Rebecca Chernock, Jeroen Coppens, Katherine E. Schwetye

“…Next-generation sequencing of a panel of cancer-associated genes demonstrated 19 identical, clinically significant mutations as well as a high tumor mutation burden in both the parotid-region and CP angle tumors, indicating a metastatic relationship between the two and a melanocytic identity of the parotid-region tumor.…”
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Cinnamaldehyde impacts key cellular signaling pathways for induction of programmed cell death in high-grade and low-grade human glioma cells by Yoo Na Kim, Ketki Patil, S. Balakrishna Pai

“…Gliomas comprise high-grade gliomas like glioblastoma multiforme (GBMs), many of which have mutation in the tumor suppressor p53 gene and low-grade gliomas (LGGs). …”
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Postrecruitment Function of Yeast Med6 Protein during the Transcriptional Activation by Mediator Complex by Gwang Sik Kim, Young Chul Lee

“…Consistent with this, the recombinant forms of Med6p having these mutations partially (Δ2) restore or fail (Δ5 and Δ6) to restore in vitro transcriptional defects caused by temperature-sensitive med6 mutation. …”
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Does Thrombocyte Size Give Us an Idea about Thrombocytosis Etiology? by Selami Kocak Toprak, Betul Erismis, Sema Karakus, Nazmiye Kursun, Aysegul Haberal, Mustafa Gurhan Ulusoy

“…In the presence of a pathogenetic mutation in JAK2 or MPL, a differential diagnosis of essential thrombocythemia (ET) from reactive causes is relatively simple. …”
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Effective in vivo binding energy landscape illustrates kinetic stability of RBPJ-DNA binding by Duyen Huynh, Philipp Hoffmeister, Tobias Friedrich, Kefan Zhang, Marek Bartkuhn, Francesca Ferrante, Benedetto Daniele Giaimo, Rhett A. Kovall, Tilman Borggrefe, Franz Oswald, J. Christof M. Gebhardt

“…We propose an effective in vivo binding energy landscape of TF-DNA interactions as instructive visualization of binding kinetics and mutation-induced changes.…”
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A New DG Multiobjective Optimization Method Based on an Improved Evolutionary Algorithm by Wanxing Sheng, Ke-yan Liu, Yongmei Liu, Xiaoli Meng, Xiaohui Song

“…The improved Pareto evolutionary algorithm, which introduces a penalty factor in the objective function constraints, uses an adaptive crossover and a mutation operator in the evolutionary process and combines a simulated annealing iterative process. …”
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Experimental Investigation on Long-Term Strength and Acoustic Emission Characteristics of Coal Pillar under Inclined Compression Loading by Chong Li, Sifeng He, Zhijun Xu

“…No matter any inclination angles, AE events can be divided into quiet period, low amplitude rising period, and high amplitude rising period with the periodic mutation of multistage loading points. Moreover, the cumulative AE energy gradually decreases with the increase of the inclination angles, which indicated that the shear stress caused by the specimen inclination can make crack initiation and propagation with less energy absorption. …”
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The Prediction of Necroptosis-Related lncRNAs in Prognosis and Anticancer Therapy of Colorectal Cancer by Hanyu Xiao, Qidan Pang, Yong Wang, Suhe Lai, Hong Chen

“…By analyzing the difference in the tumor microenvironment, microsatellite instability, and tumor mutation burden between the two groups, we explored the potential chemotherapy and immunotherapy drugs. …”
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