ITGA4 as a potential prognostic and immunotherapeutic biomarker in human cancer and its clinical significance in gastric cancer: an integrated analysis and validation by Jiaxing Zhang, Jiaxing Zhang, Gang Wang, Jie Liu, Futian Tang, Song Wang, Yumin Li, Yumin Li

“…ITGA4 positively correlated with immune cell infiltration, immune regulatory genes, chemokines, and might reduce microsatellite instability (MSI) and tumor mutation burden (TMB) by promoting MMR gene expression. …”
Get full text

Lactate Dehydrogenase-A-Forming LDH5 Promotes Breast Cancer Progression by Fang T, Hu L, Chen T, Li F, Yang L, Liang B, Wang W, Zeng F

“…Patients’ nodal status, histological types, TP53 mutation status and PAM50 subtypes were significant factors influencing the LDHA expression. …”
Get full text

O-GlcNAcylation attenuates ischemia-reperfusion-induced pulmonary epithelial cell ferroptosis via the Nrf2/G6PDH pathway by Liuqing Yang, Hexiao Tang, Jin Wang, Dawei Xu, Rui Xuan, Songping Xie, Pengfei Xu, Xinyi Li

“…Rescue experiments proved that Nrf2 knockdown or Nrf2-T334A (O-GlcNAcylation site) mutation abolished the protective effect of ferroptosis resistance. …”
Get full text

Perbandingan Arsitektur Convolutional Neural Network Pada Klasifikasi Pneumonia, COVID-19, Lung Opacity, dan Normal Menggunakan Citra Sinar-X Thoraks by Agung Wahyu Setiawan

“…Although there has been a decrease in the number of cases of Covid-19, however, there are still some new cases due to virus mutation. Besides Covid-19, the prevalence of pneumonia is still high. …”
Get full text

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening by Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Vaibhav Jadhav, Omkar Suhas Vinchure, Nazlican Altinisik, Hannes Windoffer, Sarah Muller, Ina Rothenaigner, Sean Lin, Aruljothi Mariappan, Dhanasekaran Rathinam, Ali Mirsaidi, Olivier Goureau, Lucia Ricci-Vitiani, Quintino Giorgio D’Alessandris, Bernd Wollnik, Alysson Muotri, Limor Freifeld, Nathalie Jurisch-Yaksi, Roberto Pallini, Christine R. Rose, Volker Busskamp, Elke Gabriel, Kamyar Hadian, Jay Gopalakrishnan

“…Patient-derived Hi-Q brain organoids recapitulate distinct forms of developmental defects: primary microcephaly due to a mutation in CDK5RAP2 and progeria-associated defects of Cockayne syndrome. …”
Get full text

Ethnobotanical survey of medicinal plants used in management of breast cancers in Qatar by Rasha.S.Abo El Alaa, Hend Al-Jaber, Fatima Al Zahraa Chokor, Abdullah A. Shaito, Layla Al-Mansoori

“…The literature survey also uncovered that most plants are reported to induce apoptosis through specific pathways, while others showed chemo-sensitization effects and cancer-induced mutation prevention. Moreover, some of the recommended plants have advanced to clinical studies. …”
Get full text

Peripheral neuropathy in the phase 3 ASPEN study of Bruton tyrosine kinase inhibitors for Waldenström macroglobulinemia by Benjamin M. Heyman, Stephen S. Opat, Björn E. Wahlin, Meletios-Athanasios C. Dimopoulos, Jorge J. Castillo, Alessandra Tedeschi, Constantine S. Tam, Christian Buske, Roger G. Owen, Véronique Leblond, Judith Trotman, Gisoo Barnes, Wai Y. Chan, Jingjing Schneider, Heather Allewelt, Aileen Cohen, Jeffrey V. Matous

“…Overall, 35 patients (71.4%) experienced resolution of PN symptoms, with a median time to resolution of 10.1 months (range, 1-46.8). In cohort 1 (MYD88 mutation), the median time to PN symptom resolution was 4.6 months (range, 1.1-46.8) with zanubrutinib and 14.1 months (range, 1-44) with ibrutinib. …”
Get full text

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

“…The potential deleterious effects and pathogenicity of the variant were predicted using bioinformatics tools such as Mutation Taster, PROVEAN, and SIFT. Additionally, protein stability was evaluated using I-Mutant, and 3D protein structures were modeled with I-TASSER. …”
Get full text

Cancer phylogenetic tree inference at scale from 1000s of single cell genomes by Salehi, Sohrab, Dorri, Fatemeh, Chern, Kevin, Kabeer, Farhia, Rusk, Nicole, Funnell, Tyler, Williams, Marc J., Lai, Daniel, Andronescu, Mirela, Campbell, Kieran R., McPherson, Andrew, Aparicio, Samuel, Roth, Andrew, Shah, Sohrab P., Bouchard-Côté, Alexandre

“…Moreover, we introduce a novel point mutation calling method that incorporates the CN data and the underlying phylogenetic tree to overcome the low per-cell coverage of scWGS. …”
Get full text

Evaluation of Elexacafor/Tezacaftor/Ivacaftor therapy after lung transplantation in Cystic Fibrosis: The Dutch National KOALA study by Johanna P. van Gemert, Bart Luijk, Merel E. Hellemons, Klara A. Visser, Carina.M.E. Hansen, Renske van der Meer, C. Tji Gan, Hester van der Vaart, Onno W. Akkerman, Willie N. Steenhuis, Marieke Verkleij, Harry G.M. Heijerman, Erik A.M. Verschuuren

“…Methods: Between Nov 2022-Nov 2023 ETI was offered to PwCF post-LTx with at least one F508del mutation in 3 Dutch LTx centers. PwCF were considered eligible if they had either a BMI ≤ 19 kg/m², chronic rhinosinusitis (CRS), uncontrolled diabetes or gastrointestinal (GI) symptoms. …”
Get full text

Optimasi Weight AHP Menggunakan Genetic Algorithm untuk Rekomendasi Platform Media Sosial Sebagai Sarana Promosi Digital by Risqy Siwi Pradini, Mochammad Anshori, M. Syauqi Haris

“…Each generation will carry out crossover and mutation, so this influences the resulting more diverse individuals and can ultimately help find better solutions. …”
Get full text

Analisis Kepuasan Pengguna Aplikasi Sidawai Menggunakan End User Computing Statisfaction (EUCS) DAn Importance Performance Analysis (IPA) by Kiki Haerani, Khairul Imtihan, Wafiah Murniati

“…Abstract   The Employee Data Collection System Application (SIDAWAI) is an application designed as a staffing data solution such as employee biodata, position mutation history, rank history, leave history and so on. …”
Get full text

Exosomal mir-126-3p derived from endothelial cells induces ion channel dysfunction by targeting RGS3 signaling in cardiomyocytes: a novel mechanism in Takotsubo cardiomyopathy by Xuehui Fan, Guoqiang Yang, Yinuo Wang, Haojie Shi, Katja Nitschke, Katherine Sattler, Mohammad Abumayyaleh, Lukas Cyganek, Philipp Nuhn, Thomas Worst, Bin Liao, Gergana Dobreva, Daniel Duerschmied, Xiaobo Zhou, Ibrahim El-Battrawy, Ibrahim Akin

“…Dual luciferase reporter assay coupled with gene mutation techniques identified that miR-126-3p was found to target the regulator of G-protein signaling 3 (RGS3) gene. …”
Get full text

Development of animal models to study aggressive thyroid cancers by Shovan Dutta, Jeffrey A Knauf

“…Recent studies exploring the genomic landscape of advanced thyroid cancer have identified several cooperating mutations, which are secondary genetic alterations that work alongside driver mutations to promote thyroid tumor progression. …”
Get full text

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. …”
Get full text

MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis by Vishesh Khanna, Gohar Eslami, Rochelle Reyes, Robert Diep, Sebastian Fernandez-Pol, Henning Stehr, Carlos Jose Suarez, Harlan Pinto, James M. Ford, Tian Yi Zhang, Christopher T. Chen

“…Plasma TP53 mutations were similarly detected among 4 other patients treated at our institution, with the number of mutations correlating strongly with duration of treatment. …”
Get full text

Navigating Host Immunity and Concurrent Ozone Stress: Strain‐Resolved Metagenomics Reveals Maintenance of Intraspecific Diversity and Genetic Variation in Xanthomonas on Pepper by Amanpreet Kaur, Ivory Russell, Ranlin Liu, Auston Holland, Rishi Bhandari, Neha Potnis

“…While parallel mutations may provide clues to predicting long‐term pathogen evolution and adaptive potential. …”
Get full text

p19Arf suppresses growth, progression, and metastasis of Hras-driven carcinomas through p53-dependent and -independent pathways. by Karen S Kelly-Spratt, Kay E Gurley, Yutaka Yasui, Christopher J Kemp

“…This indicates that selection for p53 mutations is a direct result of signaling from the initiating oncogenic lesion, Hras, acting through p19(Arf).…”
Get full text

Decoding the Genetics of Recurrent Molar Pregnancy by Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora

“…The risk of recurrence is seen to be associated with biallelic maternal mutations in NLRP7, KHDC3 L and PAD16 genes. Women with such mutations have a major risk of reproductive failure and normal pregnancy is seen in only 1.8%. …”
Get full text

In silico study about β-amyloid’s role in Alzheimer’s disease and glaucoma and prediction of its interactions with glaucoma related proteins by Nancy Maurya

“…The binding between β-amyloid and mutated optineurin is higher in comparison to that between β-amyloid and wild-type optineurin. …”
Get full text