Sex-biased gene expression across tissues reveals unexpected differentiation in the gills of the threespine stickleback by Sylvestre, Florent, Aubin-Horth, Nadia, Bernatchez, Louis

“…However, sex-biased expression of genes that have conserved copies on both sex chromosomes is likely driven by the degeneration of Y allele expression and a down-regulation of male-beneficial mutations on the X chromosome.…”
Get full text

The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders by Sean D. Fraser, Sean D. Fraser, Robert J. Harvey, Robert J. Harvey

“…We also highlight potential future developments in the field, including routes to personalized medicines for individuals with GlyR α2 mutations.…”
Get full text

Venetoclax added to CLAG regimen might improve the outcome of patients with relapsed/refractory acute myeloid leukemia by Yu Zhang, Zhao Yin, Zurong Yao, Dan Xu, Xuejie Jiang, Xiaqi Nie, Dandan Chen, Hongsheng Zhou, Pengcheng Shi, Hui Liu, Qifa Liu, Guopan Yu

“…Subgroup analysis showed that patients without response after two courses of induction therapy, or patients with FLT3 mutations seemed to benefit more from CLAG ± Ida/Mito + Ven than CLAG ± Ida/Mito in acquiring CRc. …”
Get full text

Genomic analysis and replication kinetics of the closely related EHV-1 neuropathogenic 21P40 and abortigenic 97P70 strains by Eslam Mohamed, Ines Zarak, Nick Vereecke, Sebastiaan Theuns, Kathlyn Laval, Hans Nauwynck

“…Both strains exhibited a nucleotide identity of 99.96%, with only seven genetic mutations in ORFs 13, 24, 30, 32, 40, 65, and 71. Isoleucine and asparagine at loci 291 and 207 of ORF30 (DNA polymerase) and ORF65 (ICP22), respectively, were unique to isolates from the Valencia outbreak. …”
Get full text

Investigation in blood-brain barrier integrity and susceptibility to immune cell penetration in a mouse model of Dravet syndrome by Cristina Alonso, Alicia García-Culebras, Valentina Satta, Inés Hernández-Fisac, Álvaro Sierra, José A. Guimaré, Ignacio Lizasoain, Javier Fernández-Ruiz, Onintza Sagredo

“…Dravet Syndrome (DS) is a pediatric encephalopathy caused by mutations in Scn1a gene encoding the α1 subunit of the NaV1.1 voltage-gated sodium channel, which lead to early febrile seizures that progress to severe tonic-clonic seizures and several long-term behavioural comorbidities. …”
Get full text

Collection of SARS-CoV-2 Virus from the Air of a Clinic within a University Student Health Care Center and Analyses of the Viral Genomic Sequence by John A. Lednicky, Sripriya N. Shankar, Maha A. Elbadry, Julia C. Gibson, Md. Mahbubul Alam, Caroline J. Stephenson, Arantzazu Eiguren-Fernandez, J. Glenn Morris, Carla N. Mavian, Marco Salemi, James R. Clugston, Chang-Yu Wu

“…Abstract The progression of COVID-19 worldwide can be tracked by identifying mutations within the genomic sequence of SARS-CoV-2 that occur as a function of time. …”
Get full text

Physiological and behavioural resistance of malaria vectors in rural West-Africa: a data mining study to address their fine-scale spatiotemporal heterogeneity, drivers, and predict... by Taconet, Paul, Soma, Dieudonné Diloma, Zogo, Barnabas, Mouline, Karine, Simard, Frédéric, Koffi, Alphonsine Amanan, Dabiré, Roch Kounbobr, Pennetier, Cédric, Moiroux, Nicolas

“…In this data-mining exercise, we modelled a set of indicators of physiological resistance to insecticide (prevalence of three target-site mutations) and behavioural resistance phenotypes (early- and late-biting, exophagy) of anopheles mosquitoes in two rural areas of West-Africa, located in Burkina Faso and Cote d'Ivoire. …”
Get full text

Immunogenicity and safety of a live-attenuated SARS-CoV-2 vaccine candidate based on multiple attenuation mechanisms by Mie Suzuki Okutani, Shinya Okamura, Tang Gis, Hitomi Sasaki, Suni Lee, Akiho Kashiwabara, Simon Goto, Mai Matsumoto, Mayuko Yamawaki, Toshiaki Miyazaki, Tatsuya Nakagawa, Masahito Ikawa, Wataru Kamitani, Shiro Takekawa, Koichi Yamanishi, Hirotaka Ebina

“…In the current study, we constructed a live-attenuated vaccine candidate, BK2102, combining naturally occurring virulence-attenuating mutations in the NSP14, NSP1, spike, and ORF7-8 coding regions. …”
Get full text

The Rise of SARS-CoV-2 Variants and the Role of Convalescent Plasma Therapy for Management of Infections by Mohamed, Moubarak, Keneth Iceland, Kasozi, Helal F., Hetta, Hazem M., Shaheen, Abdur, Rauf, Hayder M., Al-kuraishy, Safaa, Qusti, Eida M., Alshammari, Emmanuel Tiyo, Ayikobua, Fred, Ssempijja, Adam Moyosore, Afodun, Ritah, Kenganzi, Ibe Michael, Usman, Juma John, Ochieng, Lawrence Obado, Osuwat, Kevin, Matama, Ali I., Al-Gareeb, Emmanuel, Kairania, Monica, Musenero, Susan, Christina Welburn, Gaber, El-Saber Batiha

“…The SARS- Cov-2 virus has undergone multiple mutations since its emergence in 2019, resulting in changes in virulence that have impacted on disease severity globally. …”
Get full text

Balancing selection at a wing pattern locus is associated with major shifts in genome-wide patterns of diversity and gene flow by Rodríguez de Cara, María Ángeles, Jay, Paul, Rougemont, Quentin, Chouteau, Mathieu, Whibley, Annabel, Huber, Barbara, Piron-Prunier, Florence, Ramos, Renato Rogner, Freitas, André V. L., Salazar, Camilo, Silva-Brandão, Karina Lucas, Torres, Tatiana Teixeira, Joron, Mathieu

“…Selection shapes genetic diversity around target mutations, yet little is known about how selection on specific loci affects the genetic trajectories of populations, including their genome-wide patterns of diversity and demographic responses. …”
Get full text

Preclinical evaluation of avutometinib and defactinib in high‐grade endometrioid endometrial cancer by Tobias Max Philipp Hartwich, Miranda Mansolf, Cem Demirkiran, Michelle Greenman, Stefania Bellone, Blair McNamara, Shuvro P. Nandi, Ludmil B. Alexandrov, Yang Yang‐Hartwich, Silvia Coma, Jonathan Pachter, Alessandro D. Santin

“…Abstract Background High‐grade endometrial cancers (EAC) are aggressive tumors with a high risk of progression after treatment. As EAC may harbor mutations in the RAS/MAPK pathways, we evaluated the preclinical in vitro and in vivo efficacy of avutometinib, a RAF/MEK clamp, in combination with the focal adhesion kinase (FAK) inhibitors defactinib or VS‐4718, against multiple primary EAC cell lines and xenografts. …”
Get full text

Genomic data suggest parallel dental vestigialization within the xenarthran radiation by Emerling, Christopher A, Gibb, Gillian C, Tilak, Marie-Ka, Hughes, Jonathan J, Kuch, Melanie, Duggan, Ana T, Poinar, Hendrik N, Nachman, Michael W, Delsuc, Frédéric

“…We tested these competing hypotheses by examining 11 core dental genes in most living species of Xenarthra, characterizing shared inactivating mutations and patterns of relaxed selection during their radiation. …”
Get full text

Effects of perioperative treatment of resectable adenocarcinoma of esophagogastric junction by immunotherapy (Adebrelimab) combined with chemotherapy (XELOX): protocol for a single... by Yingyi Li, Yuqin Cao, Xipeng Wang, Chengqiang Li, Liqin Zhao, Hecheng Li

“…The exploratory outcomes are the biomarkers related to therapeutic efficacy, such as PD-L1 expression, microsatellite instability (MSI), tumor mutational burden(TMB), Epstein-Barr virus(EBV) infection, and circulating tumor DNA(ctDNA). …”
Get full text

Passive infusion of an S2-Stem broadly neutralizing antibody protects against SARS-CoV-2 infection and lower airway inflammation in rhesus macaques. by Christopher T Edwards, Kirti A Karunakaran, Elijah Garcia, Nathan Beutler, Matthew Gagne, Nadia Golden, Hadj Aoued, Kathryn L Pellegrini, Matthew R Burnett, Christopher Cole Honeycutt, Stacey A Lapp, Thang Ton, Mark C Lin, Amanda Metz, Andrei Bombin, Kelly Goff, Sarah E Scheuermann, Amelia Wilkes, Jennifer S Wood, Stephanie Ehnert, Stacey Weissman, Elizabeth H Curran, Melissa Roy, Evan Dessasau, Mirko Paiardini, Amit A Upadhyay, Ian N Moore, Nicholas J Maness, Daniel C Douek, Anne Piantadosi, Raiees Andrabi, Thomas R Rogers, Dennis R Burton, Steven E Bosinger

“…Viral genome sequencing demonstrated a lack of escape mutations in the CC40.8 epitope. Collectively, these data demonstrate the protective efficiency of broadly neutralizing S2-targeting antibodies against SARS-CoV-2 infection within the lower airway while providing critical preclinical work necessary for the development of pan-β-CoV vaccines.…”
Get full text

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal by Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Rüegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani

“…Genetic investigations revealed point mutations and deletions in two cases each. Despite an in‐depth search, no specific features were found to reliably distinguish KDT non‐responders from responders, underscoring the need for further research. …”
Get full text

High-resolution Cryo-EM Structure Determination of a-Synuclein—A Prototypical Amyloid Fibril by Juan Sanchez, Joshua Pierson, Collin Borcik, Chad Rienstra, Elizabeth Wright

“…In addition, repetitions of specific mutations to the SNCA gene, the gene that encodes a-syn, result in an increased disposition for synucleinopathies. …”
Get full text

CD36 inhibition enhances the anti-proliferative effects of PI3K inhibitors in PTEN-loss anti-HER2 resistant breast cancer cells by You-Yu Liu, Wei-Lun Huang, Sin-Tian Wang, Hui-Ping Hsu, Tzu-Ching Kao, Wei-Pang Chung, Kung-Chia Young

“…However, subsequent reprogramed tumor progression due to PI3K signaling pathway activation by PIK3CA mutations and/or PTEN-loss cause anti-HER2 resistance. …”
Get full text

TAB2 deficiency induces dilated cardiomyopathy by promoting mitochondrial calcium overload in human iPSC-derived cardiomyocytes by Wenrui Sun, Jianchao Zhang, Shuang Li, Wanrong Fu, Yangyang Liu, Mengduan Liu, Jianzeng Dong, Xiaoyan Zhao, Xiaowei Li

“…Abstract Background TGF-β-activated kinase 1 binding protein 2 (TAB2) is an intermediary protein that links Tumor necrosis factor receptor 1 (TNFR1) and other receptor signals to the TGF-β-activated kinase 1 (TAK1) signaling complex. TAB2 frameshift mutations have been linked to dilated cardiomyopathy (DCM), while the exact mechanism needs further investigation. …”
Get full text

Non-cancerous CT findings as predictors of survival outcome in advanced non-small cell lung cancer patients treated with first-generation EGFR-TKIs. by Pakorn Prakaikietikul, Pattraporn Tajarenmuang, Phumiphat Losuriya, Natee Ina, Thanika Ketpueak, Thanat Kanthawang

“…<h4>Conclusion</h4>In advanced EGFR-mutated NSCLC patients, assessing pre-treatment prognosis is warranted to predict the survival outcome and guide decision regarding EGFR-TKI therapy. …”
Get full text

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Nata... by M Makhetha, C Aldous, N Chabilal

“…None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. …”
Get full text