A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy by Amelia Caretto, Liviana Primerano, Francesca Novara, Orsetta Zuffardi, Stefano Genovese, Maurizio Rondinelli

“…It is caused by gain-of-function mutations of the kidney epithelial sodium channel (ENaC) and it is classically associated with hypokalemia and suppression of renin and aldosterone. …”
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Recombinant expression systems for production of stabilised virus-like particles as next-generation polio vaccines by Lee Sherry, Mohammad W. Bahar, Claudine Porta, Helen Fox, Keith Grehan, Veronica Nasta, Helen M. E. Duyvesteyn, Luigi De Colibus, Johanna Marsian, Inga Murdoch, Daniel Ponndorf, Seong-Ryong Kim, Sachin Shah, Sarah Carlyle, Jessica J. Swanson, Sue Matthews, Clare Nicol, George P. Lomonossoff, Andrew J. Macadam, Elizabeth E. Fry, David I. Stuart, Nicola J. Stonehouse, David J. Rowlands

“…Structural analyses of these recombinant VLPs provide a rational understanding of the stabilizing mutations and the role of potential excipients. Collectively, we have established these poliovirus stabilized VLPs as viable next-generation vaccine candidates for the future.…”
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Whole genomic analysis uncovers high genetic diversity of rifampicin-resistant Mycobacterium tuberculosis strains in Botswana by Tuelo Mogashoa, Tuelo Mogashoa, Johannes Loubser, Ontlametse T. Choga, Ontlametse T. Choga, Justice Tresor Ngom, Wonderful T. Choga, Wonderful T. Choga, Mpaphi B. Mbulawa, Tuduetso Molefi, One Stephen, Topo Makhondo, Kedumetse Seru, Patience Motshosi, Boitumelo Zuze, Joseph Makhema, Rosemary M. Musonda, Dimpho Otukile, Chawangwa Modongo, Botshelo T. Kgwaadira, Keabetswe Fane, Simani Gaseitsiwe, Rob M. Warren, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Anzaan Dippenaar, Elizabeth M. Streicher

“…No bedaquiline and delamanid resistance-associated mutations were detected.ConclusionsThis study highlights the high genetic diversity of M. tb strains, with a predominance of lineage 4 among people with RR-TB in Botswana. …”
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An integrative analysis of ASCL1 in breast cancer and inhibition of ASCL1 increases paclitaxel sensitivity by activating ferroptosis via the CREB1/GPX4 axis by Xiaolu Yang, Xiaolu Yang, Yilun Li, Yilun Li, Yaqi Peng, Yuan Chang, Binglu He, Binglu He, Tianqi Zhang, Tianqi Zhang, Shiyu Zhang, Cuizhi Geng, Yunjiang Liu, Xiaolong Li, Jun Hao, Li Ma

“…Genetic alterations in ASCL1 were assessed through the COSMIC and cBioPortal databases, while the TIMER2.0 database provided insights into the relationship between ASCL1 expression and key gene mutations in BC. The GDSC database was used to examine correlations between ASCL1 levels and sensitivity to standard chemotherapeutic agents. …”
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Clonal hematopoiesis of indeterminate potential is a risk factor of gastric cancer: A Prospective Cohort in UK Biobank study by Zhihui Xi, Huolun Feng, Kunling Chen, Xin Guo, Dandan Zhu, Jiabin Zheng, Yong Li

“…Conclusions and relevance: CHIP is associated with gastric cancer in the elderly and contributes to the positive association between DNM3A and ASXL1 mutations and risk of gastric cancer.…”
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Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Abstract FAM111A, a serine protease, plays roles in DNA replication and antiviral defense. Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. …”
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Primary Hairy Cell Leukemia/Lymphoma of the Breast: A Case Report and Review of the Literature by Monika Pilichowska, Ahmad Shariftabrizi, Ian Mukand-Cerro, Kenneth Miller

“…Extensive immunohistochemical studies supported by positive BRAF V600E mutational status confirmed the diagnosis of HCL. The patient remains asymptomatic without treatment one year following the diagnosis. …”
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Current Trends in the Molecular Classification of Renal Neoplasms by Andrew N. Young, Viraj A. Master, Mahul B. Amin

“…The primary approach to diagnosis is by light microscopy, using the World Health Organization (WHO) classification system, which defines histopathologic tumor subtypes with distinct clinical behavior and underlying genetic mutations. However, light microscopic diagnosis of RCC subtypes is often difficult due to variable histology. …”
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Mutant glycosidases for labeling sialoglycans with high specificity and affinity by Shuyu Liang, Qi Tang, Xunzi Guo, Zi’an Li, Yilan Guo, Jinghan Chang, Bo Cheng, Qitao Song, Jiayu Sun, Peng Dai, Xing Chen

“…Here we report the development of glycan recombinant affinity binders (GRABs) based on mutant bacterial sialidases, which are enzymatically inactive but preserve stringent specificity for sialoglycan substrates. By mutating a key catalytic residue of Streptococcus pneumoniae neuraminidase A (SpNanA) and Ruminococcus gnavus neuraminidase H (RgNanH), we develop GRAB-Sia and GRAB-Sia3 recognizing total sialoglycans and α2,3-sialosides, respectively. …”
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Oxidative stress induced protein aggregation via GGCT produced pyroglutamic acid in drug resistant glioblastoma by Deanna Tiek, Xiao Song, Xiaozhou Yu, Runxin Wu, Rebeca Iglesia, Alicia Catezone, Katy McCortney, Jordain Walshon, Craig Horbinski, Pouya Jamshidi, Rudolph Castellani, Robert Vassar, Jason Miska, Bo Hu, Shi-Yuan Cheng

“…Summary: Drug resistance is a major barrier to cancer therapies and remains poorly understood. Recently, non-mutational mechanisms of drug resistance have been proposed where a more plastic metabolic response can play a major role. …”
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Intratumor heterogeneity in KRAS signaling shapes treatment resistance by Oleksi Petrenko, Varvara Kirillov, Stephen D'Amico, Nancy C. Reich

“…Summary: KRAS mutations are linked to some of the deadliest forms of cancer. …”
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A Brief Review on Medicinal Plants-At-Arms against COVID-19 by Shivani Srivastava, Fangzhou He, Yuanding Huang, Meng Niu, Alok Adholeya, Weng Kung Peng

“…Strenuous efforts have been employed for its control and prevention; however, with recent reports on mutated strains with much higher infectivity, transmissibility, and ability to evade immunity developed from previous SARS-CoV-2 infections, prevention alternatives must be prepared beforehand in case. …”
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VEGF Spliced Variants: Possible Role of Anti-Angiogenesis Therapy by Caroline Hilmi, Mélanie Guyot, Gilles Pagès

“…Among these tumour types, clear cell renal cell carcinomas (RCCs) are the most vascularized tumours due to mutations of the von Hippel Lindau gene resulting in HIF-1 alpha stabilisation and overexpression of Vascular Endothelial Growth Factor (VEGF). …”
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The mycobacterial ABC transporter IrtAB employs a membrane-facing crevice for siderophore-mediated iron uptake by Imre Gonda, Simona Sorrentino, Laura Galazzo, Nicolas P. Lichti, Fabian M. Arnold, Ahmad R. Mehdipour, Enrica Bordignon, Markus A. Seeger

“…When IrtAB is locked in its outward-occluded conformation in nanodiscs, mycobactin is bound in the middle of the lipid bilayer at a membrane-facing crevice opening at the heterodimeric interface. Mutations introduced at the crevice abrogate mycobactin import and in corresponding structures, the crevice is collapsed. …”
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Idiopathic Infantile Arterial Calcification: A Possible Cause of Refractory Cardiopulmonary Failure in Infancy by A. Nael, P. J. Siaghani, D. Chen, S. G. Romansky, L. Shane

“…Idiopathic Infantile Arterial Calcification is a rare autosome recessive disease characterized by extensive calcification of medium and large arteries. Loss-of-function mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 gene have been described in more than 80% of the cases. …”
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Elevated expression of ANTXR1 gene in tumors is a poor prognostic biomarker for patients with bladder cancer by L. S. Franco, S. Arunachalam, A. Chauhan, S. A. Kareff, P. L. Hallenbeck

“…Furthermore, TEM8 plays this unique role as a mostly non-mutated gene in solid cancers. Here, we demonstrate that elevated expression of ANTXR1 in bladder cancer showed a statistical difference not only in overall survival (OS) but in progression-free survival (PFS), confirming the prognostic biomarker power of ANTXR1 expression.…”
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Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome by Rosalie Matico, Karolien Grauwen, Dhruv Chauhan, Xiaodi Yu, Irini Abdiaj, Suraj Adhikary, Ine Adriaensen, Garcia Molina Aranzazu, Jesus Alcázar, Michela Bassi, Ellen Brisse, Santiago Cañellas, Shubhra Chaudhuri, Francisca Delgado, Alejandro Diéguez-Vázquez, Marc Du Jardin, Victoria Eastham, Michael Finley, Tom Jacobs, Ken Keustermans, Robert Kuhn, Josep Llaveria, Jos Leenaerts, Maria Lourdes Linares, Maria Luz Martín, Rosa Martín-Pérez, Carlos Martínez, Robyn Miller, Frances M Muñoz, Michael E Muratore, Amber Nooyens, Laura Perez-Benito, Mathieu Perrier, Beth Pietrak, Jef Serré, Sujata Sharma, Marijke Somers, Javier Suarez, Gary Tresadern, Andres A Trabanco, Dries Van den Bulck, Michiel Van Gool, Filip Van Hauwermeiren, Teena Varghese, Juan Antonio Vega, Sameh A Youssef, Matthew J Edwards, Daniel Oehlrich, Nina Van Opdenbosch

“…Patients with NLRP3 mutations suffer from Cryopyrin-Associated Periodic Syndrome (CAPS) emphasizing the clinical significance of modulating NLRP3. …”
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Tumor-infiltrating lymphocytes mediate complete and durable remission in a patient with NY-ESO-1 expressing prostate cancer by Elke Jäger, Julia Karbach, Claudia Wahle, Dragan Kiselicki, Kathrin Brand, Evgueni Sinelnikov, Dirk Gustavus, Hans Hoffmeister, Hans-Bernd Prisack, Akin Atmaca

“…TILs were reactive against cancer-testis antigen NY-ESO-1, individual tumor mutational proteins (eg, PRPF8, TRPS1), and the androgen receptor splice variant 12.…”
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Antibiotic, Pesticide, and Microbial Contaminants of Honey: Human Health Hazards by Noori Al-Waili, Khelod Salom, Ahmed Al-Ghamdi, Mohammad Javed Ansari

“…Pesticide residues cause genetic mutations and cellular degradation and presence of antibiotics might increase resistant human or animal's pathogens. …”
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Genetic, Functional, and Immunological Study of ZnT8 in Diabetes by Qiong Huang, Jie Du, Chengfeng Merriman, Zhicheng Gong

“…A common ZnT8 gene (SLC30A8) polymorphism increases the risk of type 2 diabetes mellitus (T2DM), and rare mutations may present protective effects. In type 1 diabetes mellitus (T1DM), autoantibodies show specificity for binding two variants of ZnT8 (R or W at amino acid 325) dictated by a polymorphism in SLC30A8. …”
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