Mitochondrial transplantation: a promising strategy for the treatment of retinal degenerative diseases by Jing Chi, Bin Fan, Yulin Li, Qing Jiao, Guang-Yu Li

“…However, in retinal degenerative diseases, mitochondrial dysfunction significantly contributes to disease progression, involving a decline in membrane potential, the occurrence of DNA mutations, increased oxidative stress, and imbalances in quality-control mechanisms. …”
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Therapies for Mitochondrial Disorders by Kayli Sousa Smyth, Anne Mulvihill

“…Many MTDS emerge from either homoplasmic or heteroplasmic mutations of the DNA, and include mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. …”
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Multi-tissue characterization of the constitutive heterochromatin proteome in Drosophila identifies a link between satellite DNA organization and transposon repression. by Ankita Chavan, Lena Skrutl, Federico Uliana, Melanie Pfister, Franziska Brändle, Laszlo Tirian, Delora Baptista, Dominik Handler, David Burke, Anna Sintsova, Pedro Beltrao, Julius Brennecke, Madhav Jagannathan

“…We further demonstrate that this gonadal atrophy can be rescued by mutating the checkpoint kinase, Chk2, which mediates germ cell arrest in response to transposon mobilization. …”
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Cellular and genetic analysis of wound healing in Drosophila larvae. by Michael J Galko, Mark A Krasnow

“…Inactivation of the JNK pathway inhibits epidermal spreading and reepithelialization but does not affect scab formation or other wound healing responses. Conversely, mutations that block scab formation, and a scabless wounding procedure, provide evidence that the scab stabilizes the wound site but is not required to initiate other wound responses. …”
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Mitochondrial Dysfunction and Sirtuins: Important Targets in Hearing Loss by Lingjun Zhang, Zhengde Du, Shusheng Gong

“…Reactive oxygen species (ROS) are mainly derived from mitochondria, and oxidative stress induced by ROS contributes to cochlear damage as well as mitochondrial DNA mutations, which may enhance the sensitivity and severity of hearing loss and disrupt ion homeostasis (e.g., Ca2+ homeostasis). …”
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Unidirectional MCM translocation away from ORC drives origin licensing by Agata Butryn, Julia F. Greiwe, Alessandro Costa

“…We observe that duplex DNA translocation by MCM involves a set of leading-strand contacts by the pre-sensor 1 ATPase hairpins and lagging-strand contacts by the helix-2-insert hairpins. Mutating any of the MCM residues involved impairs high-salt resistant DNA binding in vitro and double-hexamer formation assessed by electron microscopy. …”
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Structural Exploration and Conformational Transitions in MDM2 upon DHFR Interaction from Homo sapiens: A Computational Outlook for Malignancy via Epigenetic Disruption by Arundhati Banerjee, Sujay Ray

“…Therefore, this probe instigates near-future clinical research and interactive computational investigations with mutations.…”
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Influence of N6-Methyladenosine Modification Gene HNRNPC on Cell Phenotype in Parkinson’s Disease by Wei Quan, Jia Li, Li Liu, Qinghui Zhang, Yidan Qin, Xiaochen Pei, Jiajun Chen

“…For example, the data of the experimental group and the validation group come from different cell types, and the data of the experimental group involve individuals with G2019S LRRK2 mutations. In addition, due to the low expression of HNRNPC in PC12 cells, we used the method of overexpressing this gene to study its function. …”
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Whole exome sequencing identifies genomic alterations in proximal and distal colorectal cancer by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Sheau Sean Khor, Sazuita Saidin, Mohd Ridhwan Abd Razak, Norshahidah Mahamad Nadzir, Zuraini Abd. Razak, Isa Mohamed Rose, Ismail Sagap, Luqman Mazlan, Nadiah Abu, Rahman Jamal

“…On the other hand, TP53 mutations did not show any CRC anatomical predominance. …”
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Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model. by Yoon Seok Nam, Eun-Ji Gi, Yoo-Seung Ko, Sungsu Lee, Hyong-Ho Cho

“…Alport syndrome (AS) is a genetic disorder marked by mutations in type IV collagen, leading to kidney glomerular dysfunction. …”
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Review of modern techniques and analysis of patient outcomes with benign familial pemphigus Gougereau–Haley–Haley by Marianna B. Drozhdina, Sergey V. Koshkin

“…Benign familial pemphigus (BFP) Gougereau–Haley–Haley is a rare autosomal dominant genodermatosis caused by mutations of the ATP2C1 gene responsible for the function of calcium-dependent ATPases regulating calcium sequestration in the Golgi apparatus. …”
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Major Organic Involvement in Women with Fabry Disease in Argentina by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. …”
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Nidoviruses associated with aquatic animals by L. P. Buchatsky, V. V. Makarov

“…Like other single-stranded RNA viruses, nidoviruses have a relatively high ability to mutate and recombine, which allows them to quickly adapt to new hosts and new ecological niches. …”
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SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies by Eirini Sevdali, Elena Tsitsami, Maria Tsinti, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Anastasios E. Germenis, Matthaios Speletas

“…In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. …”
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The Role of Mannose-Binding Lectin in Severe Sepsis and Septic Shock by Gennaro De Pascale, Salvatore Lucio Cutuli, Mariano Alberto Pennisi, Massimo Antonelli

“…More than 30% of humans harbor mutations in MBL gene (MBL2) resulting in reduced plasmatic levels and activity. …”
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HER2-related biomarkers predict clinical outcomes with trastuzumab deruxtecan treatment in patients with HER2-expressing metastatic colorectal cancer: biomarker analyses of DESTINY... by Salvatore Siena, Kanwal Raghav, Toshiki Masuishi, Kensei Yamaguchi, Tomohiro Nishina, Elena Elez, Javier Rodriguez, Ian Chau, Maria Di Bartolomeo, Hisato Kawakami, Fumitaka Suto, Makito Koga, Koichiro Inaki, Yusuke Kuwahara, Issey Takehara, Daniel Barrios, Kojiro Kobayashi, Axel Grothey, Takayuki Yoshino

“…Baseline circulating tumor DNA (ctDNA) analysis suggests antitumor activity of T-DXd in patients who had baseline activating RAS, PIK3CA, or HER2 mutations detected in ctDNA.…”
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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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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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