Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/β-Catenin Complex and Associated Genetic Alterations by Maria Del Valle Estopinal, Lavinia P. Middleton, Bita Esmaeli, Keyur P. Patel, Sara Nowroozizadeh, Michelle D. Williams

“…Cyclin D1 was focally positive in three cases. Somatic mutations in CDH1, PIK3CA, and TP53 genes were detected in two cases. …”
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A central role for Foxp3+ regulatory T cells in K-Ras-driven lung tumorigenesis. by Courtney A Granville, Regan M Memmott, Andria Balogh, Jacopo Mariotti, Shigeru Kawabata, Wei Han, Jaclyn Lopiccolo, Jason Foley, David J Liewehr, Seth M Steinberg, Daniel H Fowler, M Christine Hollander, Phillip A Dennis

“…<h4>Background</h4>K-Ras mutations are characteristic of human lung adenocarcinomas and occur almost exclusively in smokers. …”
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Minimization of the Bacillus subtilis divisome suggests FtsZ and SepF can form an active Z-ring, and reveals the amino acid transporter BraB as a new cell division influencing fact... by Ilkay Celik Gulsoy, Terrens N V Saaki, Michaela Wenzel, Simon Syvertsson, Taku Morimoto, Tjalling K Siersma, Leendert W Hamoen

“…Whole genome sequencing suggested that the construction of this minimal divisome strain was also possible due to the accumulation of suppressor mutations. After extensive phenotypic testing of these mutations, we found an unexpected cell division regulation function for the branched chain amino acid transporter BraB, which may be related to a change in fatty acid composition. …”
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Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges by Olga Domańska, Kinga Brzdęk, Michał Brzdęk, Szymon Wiśniewski, Wiktor Baran

“…The aim of the study was to summarise the latest reports on this autosomal recessive disorder. While typical mutations underlying the syndrome and their implications on cellular function have been elucidated, there are still many unknowns surrounding the disease. …”
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Calcineurin, Synaptic Plasticity, and Memory by Carl Weitlauf, Danny Winder

“…A current experimental strategy is to generate genetically altered mice with mutations in genes thought to be involved in LTP and assess the effects of these mutations both on LTP and animal behavior[1,2]. …”
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Protease Inhibitor Resistance Is Uncommon in HIV-1 Subtype C Infected Patients on Failing Second-Line Lopinavir/r-Containing Antiretroviral Therapy in South Africa by Carole L. Wallis, John W. Mellors, Willem D. F. Venter, Ian Sanne, Wendy Stevens

“…Major lopinavir resistance mutations were infrequent (5 of 75; 7%), indicating that drug resistance is not the main barrier to future viral suppression.…”
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High Sequence Variations in Mitochondrial DNA Control Region among Worldwide Populations of Flathead Mullet Mugil cephalus by Brian Wade Jamandre, Jean-Dominique Durand, Wann-Nian Tzeng

“…The high evolutionary rate of the CR in this species probably originated from these mutations. However, no excessive homoplasic mutations were noticed. …”
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Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease by Changshui Xu, Jun Xu, Yanmin Zhang, Jianjun Ma, Hideshi Kawakami, Hirofumi Maruyama, Masaki Kamada

“…There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. …”
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Aberrant FGF signaling promotes granule neuron precursor expansion in SHH subgroup infantile medulloblastoma by Odessa R Yabut, Jessica Arela, Hector G Gomez, Jesse Garcia Castillo, Thomas Ngo, Samuel J Pleasure

“…Mutations in Sonic Hedgehog (SHH) signaling pathway genes, for example, Suppressor of Fused (SUFU), drive granule neuron precursors (GNP) to form medulloblastomas (MBSHH). …”
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Transcriptional Regulation of the rsbV Promoter Controlling Stress Responses to Ethanol, Carbon Limitation, and Phosphorous Limitation in Bacillus subtilis by Soo-Keun Choi, Milton H. Saier

“…Binding sites for the global carbon and nitrogen regulators, CcpA and TnrA, were mutated, and the consequences of their loss and that of CcpA or TnrA were studied using rsbV-lacZ fusions. …”
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Long-term correction of hemophilia A via integration of a functionally enhanced FVIII gene into the AAVS1 locus by nickase in patient-derived iPSCs by Do-Hun Kim, Sang-Hwi Choi, Jin Jea Sung, Sieun Kim, Hanui Yi, Sanghyun Park, Chan Wook Park, Young Woo Oh, Jungil Lee, Dae-Sung Kim, Jong-Hoon Kim, Chul-Yong Park, Dong-Wook Kim

“…Abstract Hemophilia A (HA) is caused by mutations in coagulation factor VIII (FVIII). Genome editing in conjunction with patient-derived induced pluripotent stem cells (iPSCs) is a promising cell therapy strategy, as it replaces dysfunctional proteins resulting from genetic mutations with normal proteins. …”
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Optineurin overexpression ameliorates neurodegeneration through regulating neuroinflammation and mitochondrial quality in a murine model of amyotrophic lateral sclerosis by Shumin Zhao, Shumin Zhao, Ranran Chen, Ranran Chen, Yi An, Yali Zhang, Yali Zhang, Cheng Ma, Ying Gao, Ying Gao, Yanchao Lu, Yanchao Lu, Fei Yang, Fei Yang, Xue Bai, Xue Bai, Jingjing Zhang, Jingjing Zhang, Jingjing Zhang

“…OPTN immunopositive inclusions have been confirmed in the cases of ALS with SOD1 mutations. However, the role of the OPTN gene in ALS caused by SOD1 mutations is ambiguous.MethodsThe murine Optn lentivirus and empty vector lentivirus were injected into SOD1G93A mice after discovering variations in Optn expression over time. …”
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Unraveling the heterogeneity of WHO grade 4 gliomas: insights from clinical, imaging, and molecular characterization by Haihui Jiang, Xijie Wang, Xiaodong Chen, Shouzan Zhang, Qingsen Ren, Mingxiao Li, Ming Li, Xiaohui Ren, Song Lin, Yong Cui

“…Clinical, radiological, and histopathological data were combined with molecular profiling, focusing on IDH mutations, TERT promoter mutations, and MGMT methylation. …”
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BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts by Asta Björk Jonsdottir, Maaike P. G. Vreeswijk, Ron Wolterbeek, Peter Devilee, Hans J. Tanke, Jorunn E. Eyfjörd, Karoly Szuhai

“…Background: Inherited mutations in the tumour suppressor gene BRCA2 greatly increase the risk of developing breast, ovarian and other types of cancers. …”
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A Variant of Concern (VOC) Omicron: Characteristics, Transmissibility, and Impact on Vaccine Effectiveness by Angel Yun-Kuan Thye, Jodi Woan-Fei Law

“…The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has constantly been mutating, producing variants with evolutionary advantages. …”
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Fibrolamellar Carcinoma: 2012 Update by Michael Torbenson

“…While the genetic abnormalities that lead to fibrolamellar carcinomas are not yet known, studies have shown that they lack mutations in the genes most commonly mutated in typical hepatocellular carcinoma (TP53 and CTNNB1). …”
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Antifungal Resistance and New Strategies to Control Fungal Infections by Patrick Vandeputte, Selene Ferrari, Alix T. Coste

“…Resistance can also follow the emergence of point mutations directly in the genes coding antifungal targets. …”
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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

“…This specialized group of proteins is responsible for controlling the organization of genomic DNA in a cell-type specific fashion, controlling normal development in a spatial and temporal fashion. Moreover, mutations in epigenes have been implicated as causal in germline pediatric disorders and as driver mutations in cancer. …”
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SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS by Pamela Milani, Stella Gagliardi, Emanuela Cova, Cristina Cereda

“…Copper-zinc superoxide dismutase (SOD1) is a detoxifying enzyme localized in the cytosol, nucleus, peroxisomes, and mitochondria. The discovery that mutations in SOD1 gene cause a subset of familial amyotrophic lateral sclerosis (FALS) has attracted great attention, and studies to date have been mainly focused on discovering mutations in the coding region and investigation at protein level. …”
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A Rare Case of Richter Transformation to Both Clonally Unrelated and Clonally Related Diffuse Large B-Cell Lymphoma in the Same Patient by Michelle D. Don, Carlos Casiano, Huan-You Wang, Mikhail Gorbounov, Wei Song, Edward D. Ball

“…Additionally, we retrospectively conducted next-generation sequencing studies of both RT’s and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. …”
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