GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.…”
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Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice by Kamila Borowczyk, Jacek Wróblewski, Joanna Suliburska, Noriyuki Akahoshi, Isao Ishii, Hieronim Jakubowski

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Deconstructing the Politics of Linguistic Mutation in Tom Stoppard’s Dogg’s Hamlet, Cahoot’s Macbeth by Sarra Jouini

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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review by Sandra Sabbagh, Stephanie Antoun, André Mégarbané

“…They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene, playing an important role in myelination. …”
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Myeloid Disease with the CSF3R T618I Mutation after CLL by Maria Eduarda Couto, Susana Bizarro, Domingos Sousa, Nelson Domingues, Isabel Oliveira, Gabriela Martins, Manuel R. Teixeira, Mário Mariz

“…A peripheral blood search for the CSF3R mutation (T618I) was positive, also suggesting Chronic Neutrophilic Leukemia (CNL). …”
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Imatinib-resistance without BCR/ABL Point Mutation in Chronic Myeloid Leukemia by Aytan Shirinova

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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation by Zahra Alsahlawi, Mohamed Jailani, Husain Alaradi, Abdulaziz AlAbbad

“…DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. …”
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An Approach of Vulnerability Testing for Third-Party Component Based on Condition and Parameter Mutation by Jinfu Chen, Jiamei Chen, Yongzhao Zhan, Weihe Chen, Rubing Huang

“…In this paper, an approach of vulnerability testing is proposed based on condition mutation and parameter mutation in order to effectively detect the explicit vulnerabilities of third-party components. …”
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A Rare Case of a Right Atrial Paraganglioma in an Individual with the SHDB Mutation by Ian Lancaster, Carlos Nunez, Andrew Willinger, Christiano Caldeira, Jeffrey Aufman

“…In this case report, we discuss the case of an individual with a history of several paragangliomas with the SHDB mutation who was found to have two cardiac paragangliomas in the right atrium.…”
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Oran, une ville algérienne reconquise ; Un centre historique en mutation by Abdelkader Lakjaa

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Detection of low frequency artemisinin resistance mutations, C469Y, P553L and A675V, and fixed antifolate resistance mutations in asymptomatic primary school children in Kenya by Victor Osoti, Kevin Wamae, Leonard Ndwiga, Paul M. Gichuki, Collins Okoyo, Stella Kepha, Kibor Keitany, Regina Kandie, Stephen Aricha, Rosebella Kiplagat, Charles Mwandawiro, Philip Bejon, Robert W. Snow, Lynette Isabella Ochola-Oyier

“…A nested polymerase chain reaction (PCR) was used to generate amplicons that were sequenced to determine the prevalence of known and novel polymorphisms. Results Pfk13 mutations associated with artemisinin resistance were present as mixed genotype infections for the C469Y mutation in 23 samples (4%), the A675V mutation in 2 samples (1.7%), and the P553L mutation in 7 samples (1.2%). …”
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Midostaurin shapes macroclonal and microclonal evolution of FLT3-mutated acute myeloid leukemia by Romane Joudinaud, Augustin Boudry, Laurène Fenwarth, Sandrine Geffroy, Mikaël Salson, Hervé Dombret, Céline Berthon, Arnaud Pigneux, Delphine Lebon, Pierre Peterlin, Simon Bouzy, Pascale Flandrin-Gresta, Emmanuelle Tavernier, Martin Carre, Sylvie Tondeur, Lamya Haddaoui, Raphael Itzykson, Sarah Bertoli, Audrey Bidet, Eric Delabesse, Mathilde Hunault, Christian Récher, Claude Preudhomme, Nicolas Duployez, Pierre-Yves Dumas

“…Here, we studied the molecular mechanisms underlying refractory/relapsed (R/R) disease in patients with FLT3-mutated AML. We conducted a retrospective and multicenter study involving 150 patients with R/R AML harboring FLT3–internal tandem duplication (ITD) (n = 130) and/or FLT3–tyrosine kinase domain mutation (n = 26) at diagnosis assessed by standard methods. …”
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Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality by Guangzhong Jiao, Jinhao Xing, Zhaoli Du, Hongchu Bao, Xiaoyan Liu

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Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…BackgroundEnterokinase deficiency (EKD,OMIM #226200) is a rare autosomal recessive genetic disorder caused by mutations in transmembrane protease serine 15 (TMPRSS15). …”
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Les dynamiques urbaines de Shanghai : trois artères péri-centrales en mutation by Howard Vazquez

“…Understanding current developments of the Chinese street has a dual mission: to identify, first, the urban dynamics of streets, understanding on the other hand, the social dynamics. Mutations in the streets can actually appreciate how peri-urban arteries evolved since the early 1990’s as part of the broader redefinition of the municipality, and to analyze the dynamics of both social, political and economic.…”
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Mechanisms of multidrug resistance caused by an Ipi1 mutation in the fungal pathogen Candida glabrata by Taiga Miyazaki, Shintaro Shimamura, Yohsuke Nagayoshi, Hironobu Nakayama, Akihiro Morita, Yutaka Tanaka, Yasuhiko Matsumoto, Tatsuo Inamine, Hiroshi Nishikawa, Nana Nakada, Makoto Sumiyoshi, Tatsuro Hirayama, Shigeru Kohno, Hiroshi Mukae

“…The drug-resistant phenotype is due to a non-synonymous mutation (R70H) in gene IPI1, which is involved in pre-rRNA processing. …”
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100 Gy 60Co γ-Ray Induced Novel Mutations in Tetraploid Wheat by Chuntao Yang, Jianshu Zhu, Yun Jiang, Xiaolu Wang, Mengxue Gu, Yi Wang, Houyang Kang, Xing Fan, Lina Sha, Haiqin Zhang, Pu Xuan, Yonghong Zhou

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The haploid induction ability analysis of various mutation of OsMATL and OsDMPs in rice by Siyi Liang, Qin Wen, Wenyu Lu, Guili Yang, Yingyun Yao, Hairong Cai, Jiafeng Wang, Ming Huang, Hui Wang, Tao Guo

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Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments by John J. Willoughby, Abbie M. Jensen

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Frequency and Prognostic Relevance of FLT3 Mutations in Saudi Acute Myeloid Leukemia Patients by Ghaleb Elyamany, Mohammad Awad, Kamal Fadalla, Mohamed Albalawi, Mohammad Al Shahrani, Abdulaziz Al Abdulaaly

“…The Fms-like tyrosine kinase-3 (FLT3) is a receptor tyrosine kinase that plays a key role in cell survival, proliferation, and differentiation of hematopoietic stem cells. Mutations of FLT3 were first described in 1997 and account for the most frequent molecular mutations in acute myeloid leukemia (AML). …”
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