Iron Overload Impairs Bone Marrow Mesenchymal Stromal Cells from Higher-Risk MDS Patients by Regulating the ROS-Related Wnt/β-Catenin Pathway by Lei Huang, Zhaoyun Liu, Hui Liu, Kai Ding, Fu Mi, Chenhuan Xiang, Guanrou Wang, Yixuan Guo, Rong Fu

“…The higher incidence of ASXL1 and TET2 gene mutations in our iron overload (IO) MDS patients suggests that IO may be involved in the pathogenesis of MDS. …”
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Multisystemic impact of autosomal dominant polycystic kidney disease: A case report highlighting renal, hepatic, and neurological involvement by Ibrahim Khalil, MBBS, Ahmed Fahim Faiyaz, MBBS, Md. Imran Hossain, MBBS, Mahmuda Akter, MBBS

“…ADPKD, caused by PKD1 or PKD2 mutations, often leads to progressive renal dysfunction, hypertension, and extrarenal manifestations such as hepatic cysts and intracranial aneurysms. …”
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Genome-Wide Identification of Genes Probably Relevant to the Uniqueness of Tea Plant (Camellia sinensis) and Its Cultivars by Yan Wei, Wang Jing, Zhou Youxiang, Zhao Mingming, Gong Yan, Ding Hua, Peng Lijun, Hu Dingjin

“…Further investigation showed that nonsynonymous mutations may partially contribute to the differences between the two cultivars of C. sinensis, such as the chlorina and higher contents of amino acids in ZH2. …”
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Mitochondrial diseases: from molecular mechanisms to therapeutic advances by Haipeng Wen, Hui Deng, Bingyan Li, Junyu Chen, Junye Zhu, Xian Zhang, Shigeo Yoshida, Yedi Zhou

“…Mitochondrial genetic disorders can arise from a wide range of mutations in either mitochondrial or nuclear DNA, which encode mitochondrial proteins or other contents. …”
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Random Mutagenesis of the Aspergillus oryzae Genome Results in Fungal Antibacterial Activity by Cory A. Leonard, Stacy D. Brown, J. Russell Hayman

“…Because the genome of A. oryzae has been sequenced and systems are available for genetic transformation of this organism, targeted as well as random mutations may be introduced to facilitate the discovery of novel antibacterial compounds using this system.…”
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Genomic and phenotypic stability of fusion-driven pediatric sarcoma cell lines by Merve Kasan, Florian H. Geyer, Jana Siebenlist, Martin Sill, Rupert Öllinger, Tobias Faehling, Enrique de Álava, Didier Surdez, Uta Dirksen, Ina Oehme, Katia Scotlandi, Olivier Delattre, Martina Müller-Nurasyid, Roland Rad, Konstantin Strauch, Thomas G. P. Grünewald, Florencia Cidre-Aranaz

“…Recent reports showed that highly mutated adult carcinoma cell lines (mainly HeLa and MCF-7) present striking diversity across laboratories and that long-term continuous culturing results in genomic/transcriptomic heterogeneity with strong phenotypical implications. …”
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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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