Aromatic Amino Acid Mutagenesis at the Substrate Binding Pocket of Yarrowia lipolytica Lipase Lip2 Affects Its Activity and Thermostability by Guilong Wang, Zimin Liu, Li Xu, Yunjun Yan

“…By contrast, there are two amino acid residues (V94 and I100) with significant difference in the substrate binding pocket of YLLip2; they were subjected to site-directed mutagenesis (SDM) to introduce aromatic amino acid mutations. Two mutants (V94W and I100F) were created. …”
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Endometrial Cancer and Hypermethylation: Regulation of DNA and MicroRNA by Epigenetics by Kouji Banno, Iori Kisu, Megumi Yanokura, Kenta Masuda, Yusuke Kobayashi, Arisa Ueki, Kosuke Tsuji, Wataru Yamagami, Hiroyuki Nomura, Nobuyuki Susumu, Daisuke Aoki

“…Associations with genetic variation and mutations of cancer-related genes have been shown, but these do not provide a complete explanation. …”
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Human-based complex in vitro models: their promise and potential for rare disease therapeutics by Surat Parvatam, Francesca Pistollato, Lindsay J. Marshall, Fabia Furtmann, Devashree Jahagirdar, Mohua Chakraborty Choudhury, Sujata Mohanty, Harshita Mittal, Saveetha Meganathan, Rakesh Mishra

“…More than 70% of rare diseases are genetic in nature, with patient-specific mutations. This calls for the need to have personalised and patient-specific preclinical models that can lead to effective, speedy, and affordable therapeutic options. …”
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Pax6 regulates neuronal migration and cell proliferation via interacting with Wnt3a during cortical development by Bichao Zhang, Meihua Hou, Jiayan Huang, Yunfei Liu, Ciqing Yang, Juntang Lin

“…In patients with heterozygous Pax6 mutations, a reduction in thickness of the frontoparietal cortex was detected, which was also observed in small eye mice. …”
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Nanosensor-based imaging of realtime dopamine release in neurons derived from iPSCs of patients with Parkinson's disease by Nayeon Lee, Dakyeon Lee, Jae Hyeok Lee, Bo Seok Lee, Sungjee Kim, Jae Ho Kim, Sanghwa Jeong

“…In this study, we applied NIRCat to elucidate DA release in human induced pluripotent stem cells (hiPSCs)-derived dopaminergic neurons from both healthy control and PD patient carrying GBA1 mutations. We accurately quantified electrically stimulated DA release events, identifying distinct ‘hotspots’ of activity across DA neuronal cells. …”
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Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome by Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko

“…Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. …”
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Dysbiosis and extraintestinal cancers by Ruishan He, Pingqian Qi, Linzhen Shu, Yidan Ding, Peng Zeng, Guosheng Wen, Ying Xiong, Huan Deng

“…The oncogenic cascade always engages in the disruption of hormonal regulation and inflammatory responses, the induction of genomic instability and mutations, and the dysregulation of adult stem cell proliferation. …”
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Validation of Simple Sequence Length Polymorphism Regions of Commonly Used Mouse Strains for Marker Assisted Speed Congenics Screening by Channabasavaiah B. Gurumurthy, Poonam S. Joshi, Scott G. Kurz, Masato Ohtsuka, Rolen M. Quadros, Donald W. Harms, K. C. Kent Lloyd

“…The availability of well-established marker sets for speed congenic screens would enable the scientific community to transfer mutations across strain backgrounds. In this study, we tested the suitability of over 400 SSLP marker sets among 10 mouse strains commonly used for generating genetically engineered models. …”
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Challenges in Diagnosing Intrahepatic Cholangiolithiasis in a 39-Year-Old Patient by A. K. Guseva, O. N. Sergeyeva, T. P. Nekrasova, O. T. Imaraliev, A. V. Okhlobystin, Y. N. Shirokova, A. S. Ostrovskaya, M. S. Zharkova, A. S. Cherenda, V. T. Ivashkin

“…Cholangiolithiasis occurs in more than half of cases of primary sclerosing cholangitis and can be both a complication and a cause of secondary sclerosing cholangitis, maintaining inflammation in the ducts and facilitating stone formation. Genetic mutations are known to contribute to the development of gallstones in young patients, including low phospholipid-associated cholelithiasis. …”
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Amelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway by Hei-Yin Tam, Jiaxing Liu, Tsz-Ching Yiu, Adrian On-Wah Leung, Chang Li, Shen Gu, Owen Rennert, Boxian Huang, Hoi-Hung Cheung

“…Abstract Background Pathogenic or null mutations in WRN helicase is a cause of premature aging disease Werner syndrome (WS). …”
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Association of Lumican Gene with Susceptibility to Pathological Myopia in the Northern Han Ethnic Chinese by Fengju Zhang, Tingzhun Zhu, Zhongjun Zhou, Yudong Wu, Yang Li

“…There is no significant difference for incidence of these mutations between pedigree and sporadic group (P>.05). …”
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A universal and wide-range cytosine base editor via domain-inlaid and fidelity-optimized CRISPR-FrCas9 by Lan Hu, Jing Han, Hao-Da Wang, Zhou-Hua Cheng, Chang-Ce Lv, Dong-Feng Liu, Han-Qing Yu

“…Additionally, lower off-target editing is achieved when incorporating high-fidelity mutations at R61A and Q964A in FrCas9n, while maintaining high editing efficiency. …”
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Pathological Diagnosis of Hepatocellular Cellular Adenoma according to the Clinical Context by Paulette Bioulac-Sage, Christine Sempoux, Laurent Possenti, Nora Frulio, Hervé Laumonier, Christophe Laurent, Laurence Chiche, Jean Frédéric Blanc, Jean Saric, Hervé Trillaud, Brigitte Le Bail, Charles Balabaud

“…The most important point of the classification is the identification of β-catenin mutated HCA, a strong argument to identify patients at risk of malignant transformation. …”
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Exception to the Rule: Genomic Characterization of Naturally Occurring Unusual Vibrio cholerae Strains with a Single Chromosome by Gary Xie, Shannon L. Johnson, Karen W. Davenport, Mathumathi Rajavel, Torsten Waldminghaus, John C. Detter, Patrick S. Chain, Shanmuga Sozhamannan

“…The two origins of replication and associated genes are generally intact with synonymous mutations in some genes, as are recA and mismatch repair (MMR) genes dam, mutH, and mutL; MutS function is probably impaired in NSCV2. …”
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Site Saturation Mutagenesis Applications on Candida methylica Formate Dehydrogenase by Gülşah P. Özgün, Emel B. Ordu, H. Esra Tütüncü, Emrah Yelboğa, Richard B. Sessions, Nevin Gül Karagüler

“…The thermodynamic and kinetic results suggest that 8 mutations on the first residue can be tolerated. Among all mutants, M1L has the best residual activity after incubation at 60°C with 17%. …”
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A novel isothermal whole genome sequencing approach for Monkeypox Virus by Matthias Licheri, Manon Flore Licheri, Lukas Probst, Cora Sägesser, Pascal Bittel, Franziska Suter-Riniker, Ronald Dijkman

“…The latter allows multiplexing due to the efficient enrichment of the viral DNA, however, mutations or the presence of different clades can negatively influence genome coverage yield. …”
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Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice by Xiaolong Fu, Linqing Zhang, Yecheng Jin, Xiaoyang Sun, Aizhen Zhang, Zongzhuang Wen, Yichen Zhou, Ming Xia, Jiangang Gao

“…MYH14 is a member of the myosin family, which has been implicated in many motile processes such as ion-channel gating, organelle translocation, and the cytoskeleton rearrangement. Mutations in MYH14 lead to a DFNA4-type hearing impairment. …”
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Clade 2.3.4.4b but not historical clade 1 HA replicating RNA vaccine protects against bovine H5N1 challenge in mice by David W. Hawman, Thomas Tipih, Eddie Hodge, E. Taylor Stone, Nikole Warner, Natalie McCarthy, Brian Granger, Kimberly Meade-White, Shanna Leventhal, Kiara Hatzakis, Stephanie Park, Karen Gaffney, Kyle Rosenke, Jesse H. Erasmus, Heinz Feldmann

“…Although the United States has stockpiled and is prepared to produce millions of vaccine doses to address an H5N1 pandemic, currently circulating H5N1 viruses contain multiple mutations within the immunodominant head domain of hemagglutinin (HA) compared to the antigens used in stockpiled vaccines. …”
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Expanding the miRNA Transcriptome of Human Kidney and Renal Cell Carcinoma by Adam P. Sage, Brenda C. Minatel, Erin A. Marshall, Victor D. Martinez, Greg L. Stewart, Katey S. S. Enfield, Wan L. Lam

“…Despite advancements in therapeutic strategies, diagnostic and prognostic molecular markers of kidney cancer remain scarce, particularly in patients who do not harbour well-defined driver mutations. Recent evidence suggests that a large proportion of the human noncoding transcriptome has escaped detection in early genomic explorations. …”
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A Biopsychosocial Overview of Speech Disorders: Neuroanatomical, Genetic, and Environmental Insights by Diya Jaishankar, Tanvi Raghuram, Bhuvanesh Kumar Raju, Divyanka Swarna, Shriya Parekh, Narendra Chirmule, Vikramsingh Gujar

“…Genetic studies have identified key genes involved in neural migration and synaptic connectivity, further elucidating the role of genetic mutations in speech disorders, such as stuttering and speech sound disorders. …”
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