Non-inertial opposition-based particle swarm optimization with adaptive elite mutation by Lan-lan KANG, Wen-yong DONG, Wan-juan SONG, Kang-shun LI

Subjects: Get full text

Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy by Amel Saoudi, Manuela D. Mitsogiannis, Faouzi Zarrouki, Claire Fergus, Erwina Stojek, Silvia Talavera, Dervla Moore-Frederick, Vincent P. Kelly, Aurélie Goyenvalle, Federica Montanaro, Francesco Muntoni, Jack A. Prenderville, Ewa Sokolowska, Cyrille Vaillend

Get full text

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.…”
Get full text

Oran, une ville algérienne reconquise ; Un centre historique en mutation by Abdelkader Lakjaa

Get full text

Probing the functional constraints of influenza A virus NEP by deep mutational scanning by Qi Wen Teo, Yiquan Wang, Huibin Lv, Michael S. Oade, Kevin J. Mao, Timothy J.C. Tan, Yang Wei Huan, Joel Rivera-Cardona, Evan K. Shao, Danbi Choi, Chaoyang Wang, Zahra Tavakoli Dargani, Christopher B. Brooke, Aartjan J.W. te Velthuis, Nicholas C. Wu

“…Here, we systematically measure the replication fitness effects of >1,800 mutations of NEP. Our results show that the N-terminal domain has high mutational tolerance. …”
Get full text

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%). …”
Get full text

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. …”
Get full text

Biallelic mutations in CDC20 cause female infertility due to oocyte maturation abnormality by Guangzhong Jiao, Jinhao Xing, Zhaoli Du, Hongchu Bao, Xiaoyan Liu

Subjects: Get full text

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). …”
Get full text

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease by Hui Zhu, Yi Zhong, Shuyao Zhu

Get full text

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.…”
Get full text

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. …”
Get full text

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

Get full text

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

Get full text

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

Get full text

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). …”
Get full text

Mutation of isocitrate dehydrogenase indicates favorable outcomes in pan-cancer immune checkpoint blockade by Zhiyang Huang, Yingying Li, Hong Zhao, Bin Zhao

Get full text

Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy by Minjeong Kim, Yoonjung Kim, Hyemoon Chung, Jiwon Seo, Chul Hwan Park, Tae Hoon Kim, Se-Joong Rim, Kyung-A Lee, Eui-Young Choi

“…In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM. …”
Get full text

Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype by Li-jun Xie, Dan-dan Ruan, Jian-hui Zhang, Yi Li, Li Chen, Mao-lin Yan, Ming-dian Yu, Jie-wei Luo, Hui-zhen Zhang

“…Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease caused by mutations in the adenomatous polyposis coli (APC) gene. …”
Get full text

D-stem mutation in an essential tRNA increases translation speed at the cost of fidelity. by Madison N Schrock, Krishna Parsawar, Kelly T Hughes, Fabienne F V Chevance

“…This work, taken in context with the Hirsh UGA nonsense suppressor G24A mutation in TrpT tRNA, provides genetic evidence that the post-GTP hydrolysis proofreading step by elongation factor Tu may be controlled by structural interactions in the hinge region of tRNA species. …”
Get full text