Genome sequencing of Plasmodium malariae identifies continental segregation and mutations associated with reduced pyrimethamine susceptibility by Amy Ibrahim, Franziska Mohring, Emilia Manko, Donelly A. van Schalkwyk, Jody E. Phelan, Debbie Nolder, Steffen Borrmann, Ayola A. Adegnika, Silvia Maria Di Santi, Mohammad Shafiul Alam, Dinesh Mondal, Francois Nosten, Colin J. Sutherland, Robert W. Moon, Taane G. Clark, Susana Campino

“…Amino acid substitutions were identified in orthologs of genes associated with antimalarial susceptibility including 2 amino acid substitutions in pmdhfr aligning with pyrimethamine resistance mutations in P. falciparum. Additionally, we characterise pmdhfr mutation F57L and demonstrate its involvement in reduced susceptibility to pyrimethamine in an in vitro parasite assay. …”
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Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer by Marco Capezzone, Maja Rossi, Elisabetta Macerola, Silvia Cantara, Francesco Pepe, Eugenia Maria Morabito, Gilda Dalmazio, Sara Bardi, Agostino Ognibene, Massimo Alessandri, Gabriele Materazzi, Luigi De Napoli, Michele Cirianni, Liborio Torregrossa

“…Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). …”
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High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation by Kiyoko Gocho, Shuhei Kameya, Keiichiro Akeo, Sachiko Kikuchi, Ayumi Usui, Kunihiko Yamaki, Takaaki Hayashi, Hiroshi Tsuneoka, Atsushi Mizota, Hiroshi Takahashi

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Methylenetetrahydrofolate Reductase Enzyme Mutations and Relationship of Homocysteine Vitamin B12 and Folate Blood Levels by Tuba Günebak Şahin, Berkan Sayal, Erdal Coşgun, Tanju Besler, Sinan Beksaç

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Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species by Shatadru Ghosh Roy, Jindřich Brejcha, Petr Maršík, Anna Bakhrat, Moty Abdu, Roberto Arbore, Pedro Miguel Araújo, Sandra Afonso, Miguel Carneiro, Iris Grossman-Haham, Uri Abdu

“…Here, we identified seven previously unreported variants in PKS associated with defective psittacofulvin production in four diverse species, including three nonsense mutations. Intriguingly, three of the remaining nonsynonymous substitutions reside within the ketoacyl synthase (KS) domain, whereas one at MAT domain. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
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sNASP Mutation Aggravates to the TLR4-Mediated Inflammation in SLE by TAK1 Pathway by Yatao Bao, Meng Lian, Yong Chen, Xiaotian Gu, Kunyu Cao, Xiaoping Du, Jiyu Ju

“…The results showed that sNASP gene mutations can promote the response of the TLR4–TAK1 signaling pathway but have no significant effect on the TLR4–TBK1 signaling pathway. sNASP mutations enhanced TLR4-mediated nuclear factor-κ-gene binding and mitogen-activated protein kinase activation and IL-6, tumor necrosis factor secretion in murine peritoneal macrophages. …”
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Survival outcome prediction of esophageal squamous cell carcinoma patients based on radiomics and mutation signature by Ting Yan, Zhenpeng Yan, Guohui Chen, Songrui Xu, Chenxuan Wu, Qichao Zhou, Guolan Wang, Ying Li, Mengjiu Jia, Xiaofei Zhuang, Jie Yang, Lili Liu, Lu Wang, Qinglu Wu, Bin Wang, Tianyi Yan

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Emerging antifungal resistance in Trichophyton mentagrophytes: insights from susceptibility profiling and genetic mutation analysis by Yakun Shao, Jin Shao, Sybren de Hoog, Paul Verweij, Lin Bai, Riina Richardson, Malcolm Richardson, Zhe Wan, Ruoyu Li, Jin Yu, Yinggai Song

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Vincent Vlès. Métastations. Mutations urbaines des stations de montagne. Un regard Pyrénéen by Ismael Vaccaro

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Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation by Stephen E. Langabeer, Lisa Lee Tokar, Laura Kearney, Cathal O’Brien, Kowshika Thavarajah, Aisling Barrett, John McManus, Hilary O’Leary

“…Acquired, activating mutations of MPL W515 are recognised driver mutations of the myeloproliferative neoplasms (MPN), namely, essential thrombocythemia and primary myelofibrosis. …”
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A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X by Michael A. Flores, Marta Garcia-Forn, Alexa von Mueffling, Praise Ola, Yeaji Park, Andrea Boitnott, Silvia De Rubeis

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Corrigendum to “Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene” by Amna Ahmed, Badr Alsaleem

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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. …”
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Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation by Can Li, Lingdan Dong, Li Zhu, Wenbin Guan

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Exploring the impact of the stargazin V143L mutation on the dynamics of the AMPA receptor: stargazin complex by Raquel P. Gouveia, Raquel P. Gouveia, Carlos A. V. Barreto, Carlos A. V. Barreto, Rita Melo, Ana Luísa Carvalho, Ana Luísa Carvalho, Irina S. Moreira, Irina S. Moreira

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation by Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang, Dong-Yang Kang, Su-Yan Yang, Xin Zhang, Xue Gao, Pu Dai

“…In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. …”
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Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B by Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, John V. Conaglen

“…Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. …”
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BRAF V600E Mutation in Odontogenic Keratocyst: A Systematic Review and Meta-Analysis by Jéssica da Silva Cunha, Lucas Nascimento Ribeiro, Allan Vinícius Martins-de-Barros, Raisa Jordana Geraldine Severino-Lazo, Raíssa Soares dos Anjos, Renata de Albuquerque Cavalcanti Almeida, Mohammed N. Islam, Marianne de Vasconcelos Carvalho

“…Objective: To assess the frequency of the BRAF V600E mutation in odontogenic keratocyst, correlating the methods of evaluation and detection of the mutated protein. …”
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Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in <i>C. elegans</i> by Fanni Ősz, Aamir Nazir, Krisztina Takács-Vellai, Zsolt Farkas

“…Using <i>Caenorhabditis elegans</i> as a model organism, we discuss how ETC mutations manifest as developmental abnormalities, lifespan alterations, and changes in mtROS levels. …”
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