A DE-Based Scatter Search for Global Optimization Problems by Kun Li, Huixin Tian

“…To adaptively select the mutation operator that is most appropriate to the current problem, an adaptive mechanism for the candidate mutation operators is developed. …”
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Impact of Novel Resistance Profiles in HIV-1 Reverse Transcriptase on Phenotypic Resistance to NVP by Liyan Jiao, Hanping Li, Lin Li, Daomin Zhuang, Yongjian Liu, Zuoyi Bao, Siyang Liu, Jingyun Li

“…To clarify the impact of H221Y mutation on drug resistance to NVP. Methods. 646 bp HIV-1 pol gene fragments (from 592 to 1237 nucleotide) with different NNRTIs mutation profiles from AIDS patients receiving antiretroviral therapy containing NVP regimens were introduced into pNL4-3 backbone plasmid. …”
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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome by Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

“…A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. …”
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Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature by Elizabeth S. Sandberg, Ali S. Calikoglu, Karen J. Loechner, Lydia L. Snyder

“…Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. …”
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The use of whole genome amplification for genomic evaluation of bovine embryos by K. S. Pantiukh, I. V. Rukin, S. V. Portnov, A. Khatib, S. L. Panteleev, A. M. Mazur

“…The carrier status of HH0 and HH5 was confirmed by testing the casual mutation using PCR analysis. The carrier status for HCD has not been confirmed by casual mutation analysis. …”
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Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma in the Same Patient as a Collision Tumour by Oguz Dikbas, Aslihan Alpaslan Duman, Gulname Findik Guvendi

“…We do not know the presence of BRAF gene mutation in this case report yet.…”
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Antagonistic functions of CTL1 and SUH1 mediate cell wall assembly in Arabidopsis by Nguyen Thi Thuy, Hyun‐Jung Kim, Suk‐Whan Hong

“…In this study, we identified suppressor of hot2 1 (suh1) as a genetic suppressor of the ctl1hot2‐1 mutation in Arabidopsis. The mutation in SUH1 restored almost all examined ctl1hot2‐1 defects to nearly wild‐type levels or at least partially. …”
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Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis by Sriram Vijayraghavan, Thomas Blouin, James McCollum, Latarsha Porcher, François Virard, Jiri Zavadil, Carol Feghali-Bostwick, Natalie Saini

“…In the genomes of patients with systemic sclerosis, we find evidence of somatic hypermutation or kategis (typically only seen in cancer genomes), we identify mutation signatures closely resembling the error-prone translesion polymerase Polη activity, and observe an activation-induced deaminase-like mutation signature, which overlaps with genomic regions displaying kataegis.…”
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The RNA-binding protein Puf5 and the HMGB protein Ixr1 regulate cell cycle-specific expression of CLB1 and CLB2 in Saccharomyces cerevisiae. by Megumi Sato, Varsha Rana, Yasuyuki Suda, Tomoaki Mizuno, Kenji Irie

“…The decreased expression of CLB1 by the puf5Δ mutation caused a severe growth defect of the puf5Δ clb2Δ double mutant. …”
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Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder by Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

“…The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. …”
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Hemophilia A Haplotypes in Southwestern Iran by Bizhen Keikhaei Dehdezi, Ali Khodadadi, Arta Farhadi Kia, Faezeh Abbasi, Saeed Bitraf, Roya Salehi Kahyesh

“…In 39 patients, the most common bleeding site was in the joints, and only one case had bleeding in the gastrointestinal tract. A high mutation diversity was observed in gene mutations and inversions; the most reported case was intron-22 gene inversion. …”
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Lack of Detection of Xenotropic Murine Leukemia Virus-Related Virus in HIV-1 Lymphoma Patients by Krista A. Delviks-Frankenberry, Chawaree Chaipan, Rachel Bagni, Kathleen Wyvill, Robert Yarchoan, Vinay K. Pathak

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Real-world data of dacomitinib as first-line treatment for patients with EGFR-mutant non-small-cell lung cancer by Ji Eun Shin, Hyun Ae Jung, Sehhoon Park, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Myung-Ju Ahn, Byoung Yong Shim

“…Based on the type of EGFR mutation, the median PFS was 18.1 months (95% CI, 14.5 to NE) in patients with exon 19 deletion, and 15.9 months (95% CI, 12.5 to NE) in patients with L858R mutation. …”
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An exploratory study on the differential diagnostic indicators between adult systemic EBV-positive T-cell lymphoproliferative disorders and angioimmunoblastic T-cell lymphoma with... by Xiaodan Zheng, Yuanyuan Zheng, Yanlin Zhang, Jianlan Xie, Xiaojing Teng, Kuo Bi, Lan Sun, Xiaowen Huang, Mulan Jin, Xiaoge Zhou

“…Results 7 cases of adult EBV+ T-LPD: all cases had no more than 1 T follicular helper (THF) marker was expressed, and there were significantly more EBER+/CD3 + cells than EBER+/CD20 + cells; 5 cases had mutation detection results, in which only 1 had the characteristic KMT2D mutation, 2 had TET2 mutations, and no common mutations such as DDX3X were detected.16 cases of AITL with multiple EBV infections: all cases were found to express at least 2 TFH markers, with 87% of them expressing at least 3 TFH markers., and had significantly more EBER+/CD20 + cells than EBER+/CD3 + cells; 4 cases had mutation test results, with mutated high-frequency genes being TET2 (100%, and all of them had 2 or more TET2 mutations) and RHOA G17V (100%), DNMT3A mutation occurred in 2 cases (50%), and IDH2 R172 mutation occurred in 1 case (25%). …”
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Will the Amaranthus tuberculatus Resistance Mechanism to PPO-Inhibiting Herbicides Evolve in Other Amaranthus Species? by Chance W. Riggins, Patrick J. Tranel

“…Here we investigate inter- and intraspecific variability of the PPX2 gene—specifically exon 9, which includes the mutation site—in ten amaranth species via sequencing and a PCR-RFLP assay. …”
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Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder by Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson

“…A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“…Structural changes caused by the mutation include cerebellar hypoplasia or atrophy, microcephalus, and hypoplasia of ventral pons. …”
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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes by Heather Choat, Kerri Derrevere, Lisa Knight, Whitney Brown, Elizabeth H. Mack

“…In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. …”
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Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

“…This mutation affected the interaction with cofactor pyridoxal 5′-phosphate since the patient’s hemoglobin improved with oral administration of pyridoxine tablets. …”
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