Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations. by Federica Mosti, Mariah L Hoye, Carla F Escobar-Tomlienovich, Debra L Silver

“…Amongst ~200 mutations identified to date, half are missense. While DDX3X loss of function is known to impair neural cell fate, how the landscape of missense mutations impacts neurodevelopment is almost entirely unknown. …”
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Messenger RNA Turnover Processes in Escherichia coli, Bacillus subtilis, and Emerging Studies in Staphylococcus aureus by Kelsi L. Anderson, Paul M. Dunman

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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family by Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao

“…Results. A heterozygous missense mutation (c.1313A>G, p.D438G) in optic atrophy 1 (OPA1) was identified in 10 individuals affected with DOA in this family. …”
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A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

“…Results A previously identified missense variant (c.221C > T) in the SOX5 gene was determined to be the underlying cause of intellectual disability in a Chinese family. …”
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Missed Appendicitis: Mimicking Urologic Symptoms by Hamed Akhavizadegan

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"Wir müssen uns zusammentun." Solidarität in Aras Örens "Berliner Trilogie" (1973–1980) by Diego León-Villagrá

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Multidrug-Resistant Salmonella enterica Serovar Rissen Clusters Detected in Azores Archipelago, Portugal by Leonor Silveira, Miguel Pinto, Joana Isidro, Ângela Pista, Patrícia Themudo, Luís Vieira, Jorge Machado, João Paulo Gomes

“…Within the multiple existing Salmonella enterica serovars, the serovar Rissen is rarely reported, particularly as a cause of human salmonellosis. …”
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"Wir müssen uns zusammentun." Solidarität in Aras Örens "Berliner Trilogie" (1973–1980) by Diego León-Villagrá

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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

“…Conclusions Our study identified two compound heterozygous variants of DNAAF3, a pathogenic gene for PCD, and proved that a novel missense variant c.1364G>A affects splicing. Our findings not only expanded the spectrum of mutations in the DNAAF3 gene but also highlighted the importance of investigating variants of uncertain significance (VUS) for comprehensive genetic diagnoses.…”
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N-acetylated sugars in clownfish and damselfish skin mucus as messengers involved in chemical recognition by anemone host by Sara Heim, Tony Teav, Fabio Cortesi, Hector Gallart-Ayala, Julijana Ivanisevic, Nicolas Salamin

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A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome by Ying Zhang, Yu Chen, Fa-Ying Liu, Jing-Wen Fu, Xian-Xian Liu, Jun Tan, Ou-Ping Huang, Yang Zou

“…The pathogenicity of AXIN2 variant was further analyzed in silico.Results We totally identified 7 genetic variants of AXIN2 in this study, including 4 synonymous and 3 missense. Among them, we find a rare deleterious missense variant [p.R714W (c.2140C > T)]. …”
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Multi-messenger probes of asteroid mass primordial black holes: Superradiance spectroscopy, Hawking radiation, and microlensing by James B. Dent, Bhaskar Dutta, Tao Xu

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Review of the genus Dioctria Meigen, 1803 (Diptera: Asilidae) in Uzbekistan with the description of two new species by Sobitkhon S. Mamanov, Mukhammadtuychi R. Rakhimov, Fazlitdin Z. Khalimov, Rafik A. Khamzaev, Erkin N. Abdullayev, Abdurashid R. Jabborov, Asolat B. Khamidova, Feruz A. Shodmonov, Abbos A. Ashrapov, Sarvinoz Ochilbekova

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Effect of N-Feruloylserotonin and Methotrexate on Severity of Experimental Arthritis and on Messenger RNA Expression of Key Proinflammatory Markers in Liver by Ľudmila Pašková, Viera Kuncírová, Silvester Poništ, Danica Mihálová, Radomír Nosáľ, Juraj Harmatha, Iveta Hrádková, Tomáš Čavojský, František Bilka, Katarína Šišková, Ingrid Paulíková, Lýdia Bezáková, Katarína Bauerová

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Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

“…SEDT in this family was caused by a G/C missense mutation in exon 6 of the SEDL gene, previously not shown to be associated with X-linked SEDT.…”
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In silico evaluation of missense SNPs in cancer-associated Cystatin A protein and their potential to disrupt Cathepsin B interaction by Shafaat Hossain, Omar Hamza Bin Manjur, Mst Sharmin Sultana Shimu, Tamanna Sultana, Mustafizur Rahman Naim, Shahariar Siddique, Abdullah Al Mamun, Md Miftaur Rahman, Md Abu Saleh, Md Rakibul Hasan, Tania Rahman

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Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus by Hussein A. Saud, Paul A. O’Neill, Brian C. Ring, Tetsuhiro Kudoh

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Exploring the impact of deleterious missense nonsynonymous single nucleotide polymorphisms in the DRD4 gene using computational approaches by Dipto Kumer Sarker, Pallobi Ray, Fayad Bin Abdus Salam, Shaikh Jamal Uddin

“…The aim of this study is to uncover novel damaging missense nsSNPs and their structural and functional effects on the DRD4 receptor. …”
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Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A by Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

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Historias de misses, historia de naciones by Andrea Pequeño

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