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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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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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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Comment agir au cœur d’un paysage fluvial en mutation ? by Anourak Visouthivong

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Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations by Su-Hye Choi, Seung-Hyun Jung, Yeun-Jun Chung

“…Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine. …”
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Tumor mutation burden for predicting immune checkpoint blockade response: the more, the better by Ming Zheng

“…Background Recently, the US Food and Drug Administration (FDA) has approved immune checkpoint blockade (ICB) for treating cancer patients with tumor mutation burden (TMB) >10 mutations/megabase (mut/Mb). …”
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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites by Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg, Blanche P. Alter, Hans Joenje, Hanne Meijers-Heijboer

“…We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.…”
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« Mutations de l’espace marchand », DESSE R-P., LESTRADE S. (Dir.) by Emilie Demoyer

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

“…Knowledge of somatic mutations contributing to PCC/PGL/HNPGL pathogenesis has received less attention though mutations in HRAS, HIF2A, NF1, RET, and VHL have been reported. …”
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