Modes and mechanisms for the inheritance of mitochondria and plastids in pathogenic protists. by Sophie L Collier, Sarah N Farrell, Christopher D Goodman, Geoffrey I McFadden

“…Such mutations ultimately challenge our ability to control and eradicate the diseases caused by these pathogenic protists. …”
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Treatment options for Leber hereditary optic neuropathy by I. Povilaitytė, R. Liutkevičienė

“…In about 70% of LHON cases three major mutations in mitochondrial DNA: 11778G>A/ND4, 3460G>A/ND1 and 14484T>C/ND6 are detected. …”
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Molecular subtype of ovarian clear cell carcinoma: an analysis of 80 Chinese patients using the TCGA molecular classification of endometrial cancer by Wei Chen, Lu Yan, Qin Li, Shuling Zhou, Ting Hou, Huijuan Yang, Shuang Ye

“…All the MSI-H patients had ARID1A mutations, whereas patients with the p53abn subtype had the lowest percentage of ARID1A mutations (27.3%). …”
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Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma by Milena Urbini, Margherita Nannini, Annalisa Astolfi, Valentina Indio, Valentina Vicennati, Matilde De Luca, Giuseppe Tarantino, Federica Corso, Maristella Saponara, Lidia Gatto, Donatella Santini, Guido Di Dalmazi, Uberto Pagotto, Renato Pasquali, Andrea Pession, Guido Biasco, Maria A. Pantaleo

“…About 50% of PCCs examined had somatic mutations on the known susceptibility VHL, NF1, and RET genes. …”
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Immunosuppressants in modern approaches to treatment of inflammatory bowel diseases by O. B. Schukina, A. G. Kharitonov, A. M. Kharitidis, T. E. Ivashchenko, Yu. A. Nasykhova, T. V. Gabrusskaya, A. Yu. Baranovsky

“…To characterize frequency of TPMT gene mutations in patients with inflammatory bowel diseases (IBD) with myelosuppression and to estimate value of these mutations in prognosis of myelosuppression development in patients receiving thiopurine treatment.Material and methods. …”
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A synchronous occurrence of breast cancer and pleural mesothelioma: a case report by Zaheer Ahmad, Hashir Jehanzeb, Saad Noor Hussain, M. Umar, Humna Saleem

“…However, a few studies have reported cases of malignant pleural mesothelioma resulting from non-asbestos factors, including radiotherapy for breast cancer, viruses, chronic inflammation, and BRCA1-associated protein-1-associated genetic mutations. Breast cancer is the most common sporadic cancer among women, and a small percentage of cases are related to genetic factors, such as BRCA1/2 and BRCA1-associated protein-1 mutations. …”
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Characterization of tumor evolution by functional clonality and phylogenetics in hepatocellular carcinoma by Zeynep Kacar, Eric Slud, Doron Levy, Julián Candia, Anuradha Budhu, Marshonna Forgues, Xiaolin Wu, Arati Raziuddin, Bao Tran, Jyoti Shetty, Yotsawat Pomyen, Jittiporn Chaisaingmongkol, Siritida Rabibhadana, Benjarath Pupacdi, Vajarabhongsa Bhudhisawasdi, Nirush Lertprasertsuke, Chirayu Auewarakul, Suleeporn Sangrajrang, Chulabhorn Mahidol, Mathuros Ruchirawat, Xin Wei Wang

“…We find that linear evolving HCC is less aggressive than other types. GTF2IRD2B mutations are enriched in HCC with linear evolution, while TP53 mutations are the most frequent genetic alterations in HCC with non-linear models. …”
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Treatment of a mutant KRAS lung cancer cell line with polyisoprenylated cysteinyl amide inhibitors activates the MAPK pathway, inhibits cell migration and induces apoptosis. by Matthew D Gregory, Kweku Ofosu-Asante, Jassy Mary S Lazarte, Pablo E Puente, Nada Tawfeeq, Nadine Belony, Yong Huang, Ite A Offringa, Nazarius S Lamango

“…KRAS mutations are the most common oncogenic mutations in lung adenocarcinoma in Black Americans. …”
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Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes by Saloni Mangal, Abhijit Debnath, Rupa Mazumder, Avijit Mazumder, Rajesh Kumar Singh, Jahanvi Sanchitra, S.K. Asif Jan, Pratibha Pandey, Bimlesh Kumar, Anil Kumar Singh

“…Lung cancer is the leading cause of cancer-related deaths globally, accounting for 1.8 million fatalities in 2020. Genetic mutations, chromosomal abnormalities, transcription factors, mutations in tumor suppressor genes, and mutations in oncogenes have all been associated with an increased risk of LC development. …”
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Genetics of Nonsyndromic Congenital Hearing Loss by Oguz Kadir Egilmez, M. Tayyar Kalcioglu

“…This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear.…”
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Sharing of cmeRABC alleles between C. coli and C. jejuni associated with extensive drug resistance in Campylobacter isolates from infants and poultry in the Peruvian Amazon by Kerry K. Cooper, Evangelos Mourkas, Francesca Schiaffino, Craig T. Parker, Tackeshy N. Pinedo Vasquez, Paul F. Garcia Bardales, Pablo Peñataro Yori, Maribel Paredes Olortegui, Katia Manzanares Villanueva, Lucero Romaina Cachique, Hermann Silva Delgado, Matthew D. Hitchings, Steven Huynh, Samuel K. Sheppard, Ben Pascoe, Margaret N. Kosek

“…Globally, these mutations are found in approximately 6% of isolates, with higher prevalence in poultry in multiple countries. …”
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Single-cell multiomics reveal divergent effects of DNMT3A- and TET2-mutant clonal hematopoiesis in inflammatory response by Wazim Mohammed Ismail, Jenna A. Fernandez, Moritz Binder, Terra L. Lasho, Minsuk Kim, Susan M. Geyer, Amelia Mazzone, Christy M. Finke, Abhishek A. Mangaonkar, Jeong-Heon Lee, Liguo Wang, Kwan Hyun Kim, Vernadette A. Simon, Fariborz Rakhshan Rohakthar, Amik Munankarmy, Seul Kee Byeon, Susan M. Schwager, Jonathan J. Harrington, Melissa R. Snyder, Keith D. Robertson, Akhilesh Pandey, Eric D. Wieben, Nicholas Chia, Alexandre Gaspar-Maia, Mrinal M. Patnaik

“…Abstract: DNMT3A and TET2 are epigenetic regulator genes commonly mutated in age-related clonal hematopoiesis (CH). …”
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Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

“…The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire gene locus. Five mutations in the coding sequence of , including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations). …”
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Chronic Myeloid Leukemia Relapsing 25 Years after Allogenic Stem Cell Transplantation by Håkon Reikvam, Jørn Skavland, Stein-Erik Gullaksen, Randi Hovland, Tobias Gedde-Dahl, Øystein Bruserud, Bjørn Tore Gjertsen

“…Polymerase chain reaction (PCR) detected gradually evaluated levels of BCR-ABL1 transcripts, eventually leading to the diagnosis of relapsed disease. Additional mutational analyses did not reveal mutations in the BCR-ABL1 gene, or other cooperating mutations. …”
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Nephrogenic Syndrome of Inappropriate Antidiuresis by D. Morin, J. Tenenbaum, B. Ranchin, T. Durroux

“…To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. …”
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Genome stability of the vaccine strain VAC∆6 by R. A. Maksyutov, S. N. Yakubitskiy, I. V. Kolosova, T. V. Tregubchak, A. N. Shvalov, E. V. Gavrilova, S. N. Shchelkunov

“…To prevent this, we performed a genome-wide sequencing of VAC LIVP, VACΔ6, and five intermediate viral strains to assess possible off-target mutations. A comparative analysis of complete viral genomes showed that, in addition to target mutations, only two nucleotide substitutions occurred spontaneously when obtaining VACΔ4 from the VACΔ3 strain; the mutations persisting in the VACΔ5 and VACΔ6 genomes. …”
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Sex-based differences in lung cancer susceptibility and molecular genetics in the 2020s by Berta Mosleh, Pavla Sarova, Sonja Zehetmayer, Felicitas Oberndorfer, Joachim Widder, Helmut Prosch, Marco Idzko, Clemens Aigner, Mir Alireza Hoda, Daniela Gompelmann

“…Introduction: Sex-based differences in histological subtypes, in frequencies of mutations, and differences in response to the various therapeutic approaches in lung cancer are well studied. …”
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A Novel Pyroptosis-Based Prognostic Model Correlated with the Parainflammatory Immune Microenvironment of Pancreatic Cancer by Kong-kong Wei, Zhi-xing Du, Jun-ge Deng, Jin-wei Yang, Hao Chen

“…KRAS mutations in high-risk patients caused a more unfavorable prognosis than wild-type KRAS (p=0.016), whereas TP53 mutations in low-risk patients exhibited a poorer outcome than wild-type TP53 (p=0.009). …”
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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta by I. Mouna Ben Amor, Francis H. Glorieux, Frank Rauch

“…Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. …”
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RNA-Binding Proteins in Amyotrophic Lateral Sclerosis and Neurodegeneration by Scott E. Ugras, James Shorter

“…Subsequent sequencing of ALS patients successfully identified ALS-linked mutations in TAF15 that were largely absent in control populations. …”
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