New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications by Eva Sticova, Milan Jirsa, Joanna Pawłowska

“…Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of ATP8B1, ABCB11, ABCB4, TJP2, and NR1H4 have been described. …”
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Targeted Regulation Of Cgrp Gene Expression by A. F. Russo, P. L. Durham

“…This observation supports the importance of a finely tuned balance of calcium in the trigeminal neuron, which is intriguing in light of genetic evidence for calcium channel mutations in a rare form of inherited migraine. These studies suggest that modulation of MAP kinase control of the cell-specific CGRP gene enhancer may be a useful therapeutic strategy for neurovascular disorders.…”
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A scoping review of published literature on chikungunya virus. by Mariola Mascarenhas, Sophiya Garasia, Philippe Berthiaume, Tricia Corrin, Judy Greig, Victoria Ng, Ian Young, Lisa Waddell

“…In addition, a repository of CHIKV mutations associated with evolutionary fitness and adaptation has been created by compiling and characterizing these genetic variants as reported in scientific literature.…”
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Identification of Binding Partners of Deafness-Related Protein PDZD7 by Haibo Du, Rui Ren, Panpan Chen, Zhigang Xu, Yanfei Wang

“…PDZD7 is an important deafness gene, whose mutations are associated with syndromic and nonsyndromic hearing loss. …”
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Epidemiological Features of Clostridium difficile Colonizing the Intestine of Jordanian Infants by Eman N. Abu-Khader, Eman F. Badran, Asem A. Shehabi

“…The results showed that 40.5% of the isolates carried mutated gyrA and gyrB genes which have cross-resistance to ciprofloxacin and moxifloxacin. …”
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Effect of innate and induced immunity on infectious bursal disease pathogenesis by A. N. Semina

“…Being the RNA-virus, the agent is specified by high frequency of mutations, which result in the emergence of the strains with modified antigenicity and increased virulence. …”
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ParSite is a multicolor DNA labeling system that allows for simultaneous imaging of triple genomic loci in living cells. by Xiaohui He, Yadong Sun, Hanhui Ma

“…The tricolor ParSite system is derived from the T. thermophilus ParB/ParSc (TtParB/ParSc) system by rational design. We mutated the interface between TtParB and ParSc and generated a new pair of TtParBm and ParSm for genomic DNA labeling. …”
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Tau phosphorylation suppresses oxidative stress-induced mitophagy via FKBP8 receptor modulation. by Michael O Isei, Meredith Crockett, Emily Chen, Joel Rodwell-Bullock, Trae Carroll, Peter A Girardi, Keith Nehrke, Gail V W Johnson

“…Previously, we showed that tau which has been mutated at Thr-231 to glutamic acid to mimic an Alzheimer's-relevant phospho-epitope expressed early in disease selectively inhibits oxidative stress-induced mitophagy in Caenorhabditis elegans. …”
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Transcriptome-proteome integration analysis identifies elevated expression of LARP7 promoting the tumorigenesis and development of gastrointestinal stromal tumors by Heng Zheng, Yong Pan

“…Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the digestive tract, with c-kit and PDGFRA mutations being the primary causes. However, GIST pathogenesis is not still fully understood. …”
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Molecular Detection of Candida tropicalis Isolated from Immunocompromised Patients with Otitis Media by Aymen Nazar Khalil, Abbas M. Ammari

“…The mutant isolate, has more than one substitution mutations. We are concluded that Candida tropicalis  is reported as the most causative agent of otitis media. …”
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Transcription factor TCF4: structure, function, and associated diseases by R. R. Savchenko, N. A. Skryabin

“…This hinders progress in basic and applied biological and medical sciences, especially in treating hereditary diseases, which are caused by mutations and polymorphic variants in individual genes. …”
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Rabex-5 E3 and Rab5 GEF domains differ in their regulation of Ras, Notch, and PI3K signaling in Drosophila wing development. by Theresa A Reimels, Mia Steinberg, Hua Yan, Sivan Shahar, Ashley Rosenberg, Kristina Kalafsky, Max Luf, Lindsay Kelly, Stacia Octaviani, Cathie M Pfleger

“…Here we report genetic interactions using Rabex-5 transgenes encoding domain-specific mutations that show that Rabex-5 requires an intact E3 domain to inhibit Notch signaling in the epithelial tissue of the developing wing. …”
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Emergence of SARS-CoV-2 subgenomic RNAs that enhance viral fitness and immune evasion. by Harriet V Mears, George R Young, Theo Sanderson, Ruth Harvey, Jamie Barrett-Rodger, Rebecca Penn, Vanessa Cowton, Wilhelm Furnon, Giuditta De Lorenzo, Margaret Crawford, Daniel M Snell, Ashley S Fowler, Anob M Chakrabarti, Saira Hussain, Ciarán Gilbride, Edward Emmott, Katja Finsterbusch, Jakub Luptak, Thomas P Peacock, Jérôme Nicod, Arvind H Patel, Massimo Palmarini, Emma Wall, Bryan Williams, Sonia Gandhi, Charles Swanton, David L V Bauer

“…We observe distinct phenotypes when the Nucleocapsid coding sequence is mutated compared to when the TRS alone is ablated. …”
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Passé traumatique, mémoire, histoire confisquée et identité volée : la déportation des tatars de Crimée par Staline en mai 1944 (le « Surgûn ») by Cezar Aurel Banu

“…Ce processus de reconstruction identitaire a lieu aujourd’hui dans un contexte conflictuel créé par les avatars de l’histoire et les fréquentes mutations de peuples, qui ont modifié la configuration ethnique de la péninsule de Crimée.…”
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Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees by Wenhua Duan, Taicheng Zhou, Xiaoru Huang, Dongqiong He, Min Hu

“…Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals. …”
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Characterization of Patients with Cystic Fibrosis in Multidisciplinary Consultation by Caridad Llull Tombo, Mercedes Fonseca Hernández, Ileana García Rodríguez, Juan Carlos Yanes Macías, Daymí Tió González, Yoandra León Rayas

“…Patients were group according to the following variables: age, sex and municipality of origin, the clinical manifestations that suggested the diagnosis, age of presentation and the age at diagnosis, presence of digestive manifestations, germs isolated in microbiological studies, mutations found in patients with cystic fibrosis. For the processing of numerical data descriptive statistics techniques were used. …”
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Characterization of m6A Methylation Modification Patterns in Colorectal Cancer Determines Prognosis and Tumor Microenvironment Infiltration by Qingfang Yue, Yuan Zhang, Fei Wang, Fei Cao, Jun Bai, Xianglong Duan

“…The results indicated that the expression profiles and genetic mutations of 21 genes encoding m6A methylation regulators in CRC were characterized by a high degree of heterogeneity. …”
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Development of a Model Mutagenesis System for Snapdragon by Zhaoyuan Lian, Heqiang Huo, Sandra B. Wilson, Jianjun Chen

“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
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Comprehensive Analysis of Gene Signatures of m6ARNA Methylation Regulators in Lung Adenocarcinoma and Development of a Risk Scoring System by Chundi Gao, Huayao Li, Wenzhe Ma, Qiming Zhang, Cun Liu, Lijuan Liu, Jing Zhuang, Changgang Sun

“…We systematically studied correlations among important M6A methylation regulators, tumor mutational burden (TMB), and immune infiltration in clinical and sequencing data from the LUAD cohort of the cancer genome map (TCGA). …”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…The c.9273 + 1G > A variant has been documented in two independent studies, one from the United states and the other from the United Kingdom. Two mutations, a nonsense c.5299C > T and a frameshift single nucleotide deletion c.4180delG are currently mentioned in few databases only. …”
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