GNQ-209P Mutation in Metastatic Uveal Melanoma and Treatment Outcome by Nagla Abdel Karim, Ihab Eldessouki, Ahmad Taftaf, Deeb Ayham, Ola Gaber, Abouelmagd Makramalla, Zelia M. Correa

“…We report a series of patients with metastatic UM with distinct mutational profiles. One had significant liver metastases with proven GNQ-209P mutation on tissue biopsy while peripheral blood molecular profiling did not show these mutations. …”
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Improvement of Aspergillus niger for Sodium Gluconate Synthesis by UV Mutation Method by Rajagopalan Prabu, Thomas Chand, Sunhare Raksha

“…The sodium gluconate synthesis pathway was improved in Aspergillus niger by random mutation method. A. niger was mutated with Ultraviolet (UV) radiation and the alteration of cell bound enzymes activity of gluconic acid synthesis pathway and sodium gluconate synthesis were evaluated. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…Patients with different FBN1 mutations often present more considerable phenotypic variation. …”
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Recurrent opportunistic infections in a HIV-negative patient with combined C6 and NFKB1 mutations: A case report, pedigree analysis, and literature review by Zheng Yamei, Guan Liwen, Li Jiao, Fu Yihui

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Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene by Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li

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Personality traits of women with hereditary risk for breast/ovarian cancer versus obstetric history and cancer preventive behaviors by Joanna Żurawska, Beata Pięta, Maciej Wilczak, Małgorzata Wojciechowska, Paweł Rzymski, Agnieszka Pieczykolan, Justyna Krysa, Agnieszka Bień

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Brief Report: Not Created Equal: Survival Differences by KRAS Mutation Subtype in NSCLC Treated With Immunotherapy by Lova Sun, MD, MSCE, Yunyun Zhou, PhD, Elizabeth A. Handorf, PhD, Hossein Borghaei, DO, Jessica Bauman, MD, Charu Aggarwal, MD

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Temporalités du street art et image des territoires en mutation by Clotilde Kullmann

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Identification of Mutations that Encode Drug Resistance in the Polymerase Gene of the Human Immunodeficiency Virus by Zhengxian Gu, Hengsheng Fang, Horacio Salomon, Qing Gao, Mark A Wainberg

“…When the 65 and 184 mutations were combined into HXB2-D, the resultant construct did not possess higher levels of resistance lo any of these drugs than observed with the site 65 or 184 mutation alone. …”
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NOVEL MUTATIONS IN THE NON-STRUCTURE PROTEIN 2 OF SARS-CoV-2 by Mohsen Nakhaei, Zohreh-Al-Sadat Ghoreshi, Mohammad Rezaei Zadeh Rukerd, Hedyeh Askarpour, Nasir

“… Background: Mutation in the genome of SARS-CoV-2 may play a role in immune evasion, pathogenicity and speed of its transmission. …”
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RIP mutated ITS genes in populations of Ophiocordyceps sinensis and their implications for molecular systematics by Yi Li, Lan Jiang, Ke Wang, Hai-Jun Wu, Rui-Heng Yang, Yu-Jing Yan, Kathryn E. Bushley, David L. Hawksworth, Zujian Wu, Yi-Jian Yao

“…Among those paralogs, are AT-biased ITS sequences which were hypothesized to result from repeat-induced point mutation (RIP). This is a process that detects and mutates repetitive DNA and frequently leads to epigenetic silencing, and these mutations have been interpreted as pseudogenes. …”
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Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress by Anna Tarocco, Elisa Ballardini, Maria Raffaella Contiero, Giampaolo Garani, Silvia Fanaro

“…Multiple mutations of surfactant genes causing surfactant dysfunction have been described. …”
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Enthesitis in a 16-Year-Old Boy with M694V Mutation by Syert Luidolf Nienhuis, Robin Eric Westerbeek

“…Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. …”
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NMD Microarray Analysis for Rapid Genome-Wide Screen of Mutated Genes in Cancer by Maija Wolf, Henrik Edgren, Aslaug Muggerud, Sami Kilpinen, Pia Huusko, Therese Sørlie, Spyro Mousses, Olli Kallioniemi

“…Finding genes undergoing mutations is challenging and slow, even in the post-genomic era. …”
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An In silico Approach towards Finding the Cancer-Causing Mutations in Human MET Gene by Fayeza Sadia Laskar, Md. Nazmul Islam Bappy, Md. Sowrov Hossain, Zenifer Alam, Dilruba Afrin, Sudeb Saha, Kazi Md. Ali Zinnah

“…These mutations can change the structure and function of MET leading to different diseases such as lung cancer, neck cancer, colorectal cancer, and many other complex syndromes. …”
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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

“…These two mutations predict a severe phenotype and thus identification of these mutations has an important clinical significance in CHS.…”
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Self-adaptive bare-bones differential evolution based on bi-mutation strategy by Hui-yu LIU, Ji-hong HAN, Lin YUAN, Bo YU

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A Primer on the Role of TP53 Mutation and Targeted Therapy in Endometrial Cancer by Bohao Zhang, Haozhe Zhang, Yanru Qin

Subjects: “…tp53 mutations…”
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The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update by Lucas Bouys, Anna Vaczlavik, Isadora P. Cavalcante, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stéphanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gérald Raverot, Cristina L. Ronchi, Ulrich Dischinger, Martin Reincke, Maria C. Fragoso, Constantine A. Stratakis, Albain Chansavang, Eric Pasmant, Bruno Ragazzon, Jérôme Bertherat, for the COMETE and ENSAT Networks

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Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss by Mehdi Kashifard, Zahra Basirat, Fatemeh Ramezani, Faeze Ghofrani, Masoumeh Golsorkhtabaramiri

“…Background: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL. …”
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