Unraveling the pathogenesis of Barrett’s esophagus and esophageal adenocarcinoma: the “omics” era by Alberto Barchi, Giuseppe Dell’Anna, Giuseppe Dell’Anna, Luca Massimino, Luca Massimino, Francesco Vito Mandarino, Edoardo Vespa, Edi Viale, Sandro Passaretti, Vito Annese, Vito Annese, Alberto Malesci, Alberto Malesci, Silvio Danese, Silvio Danese, Federica Ungaro

“…Genomics and transcriptomics studies, implemented with the most advanced bioinformatics technologies, have brought to light many new risk loci and genomic alterations connected to BE and its progression to EAC, further exploring the complex pathogenesis of the disease. Early mutations of the TP53 gene, together with late aberrations of other oncosuppressor genes (SMAD4 or CKND2A), represent a genetic driving force behind BE. …”
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Cxcr1 gene snp variability that affects mastitis resistance in holstein cows in türkiye by Kozet AVANUS, Alper YILMAZ, Halil GÜNEŞ, Ahmet ALTINEL, Bülent EKİZ, Hülya YALÇINTAN, Dilara KEÇİCİ, Nurşen DOĞAN

“…These variants are synonymous mutations that do not alter the amino acid sequence but may influence protein synthesis through effects on mRNA stability, splicing, or translation efficiency. …”
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Genome-wide analysis of Smad and Schnurri transcription factors in C. elegans demonstrates widespread interaction and a function in collagen secretion by Mehul Vora, Jonathan Dietz, Zachary Wing, Karen George, Jun Kelly Liu, Christopher Rongo, Cathy Savage-Dunn

“…At a genome-wide scale, SMA-3/Smad acts as a transcriptional activator, whereas SMA-9/Schnurri direct targets include both activated and repressed genes. Mutations in sma-9 partially suppress the small body size phenotype of sma-3, suggesting some level of antagonism between these factors and challenging the prevailing model for Schnurri function. …”
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Targeting EP2 Receptor Improves Muscle and Bone Health in Dystrophin^−/−/Utrophin^−/− Double-Knockout Mice by Xueqin Gao, Yan Cui, Greg Zhang, Joseph J. Ruzbarsky, Bing Wang, Jonathan E. Layne, Xiang Xiao, Johnny Huard

“…Duchenne muscular dystrophy (DMD) is a severe genetic muscle disease occurring due to mutations of the dystrophin gene. There is no cure for DMD. …”
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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. …”
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A cohort-based multi-omics identifies nuclear translocation of eIF5B /PD-L1/CD44 complex as the target to overcome Osimertinib resistance of ARID1A-deficient lung adenocarcinoma by Dantong Sun, Helei Hou, Feiyue Feng, Weizheng Wu, Jingyu Tan, Tongji Xie, Jiayu Liu, Jinsong Wang, Haili Qian, Junling Li, Puyuan Xing

“…Further investigation into the mechanisms driving resistance to Osimertinib is necessary to address the restricted treatment options and survival advantages that are compromised by resistance in patients with EGFR-mutated lung adenocarcinoma (LUAD). Methods Spatial transcriptomic and proteomic analyses were utilized to investigate the mechanisms of Osimertinib resistance. …”
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Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colomb... by Diego Medina, Jhonier Orlando Castro, David Esteban Castro, Estefanía Beltrán, Eliana Manzi, Alexis Antonio Franco, Manuela Olaya

“…Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. …”
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Adult hypophosphatasia presenting with recurrent acute joint pain by Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto

“…A diagnosis of adult HPP due to compound heterozygous mutations was therefore confirmed. Enzyme replacement therapy with asfotase alfa was then introduced; no attacks of arthralgia occurred in the 1-year period since then. …”
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Bioinformatics and Expression Profiling of the DHHC-CRD S-Acyltransferases Reveal Their Roles in Growth and Stress Response in Woodland Strawberry (<i>Fragaria vesca</i>) by Si Gu, Xinghua Nie, Amal George, Kyle Tyler, Yu Xing, Ling Qin, Baoxiu Qi

“…An AlphaFold prediction of the DHHC and the mutated DHHC155S of FvPAT19 provided further proof of the importance of C155 in fatty acid binding. …”
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A Five-Year Retrospective Study of Foot-and-Mouth Disease Outbreaks in Southern Africa, 2014 to 2018 by Elliot Mpolokang Fana, Sununguko Wata Mpoloka, Melvin Leteane, LaToya Seoke, Kelebogile Masoba, Mokganedi Mokopasetso, Aobakwe Rapharing, Tshephang Kabelo, Patricia Made, Joseph Hyera

“…Foot-and-mouth disease (FMD) virus (FMDv), like other ribonucleic acid (RNA) genome viruses, has a tendency to mutate rapidly. As such, available vaccines may not confer enough cross-protection against incursion of new lineages and sublineages. …”
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Genomic insights into population dynamics and adaptive strategies of the endangered dipterocarp, Hopea chinensis by Wei-Min Xiang, Yu-Ting Jiang, Jie Zou, Yan Deng, Kai Jiang, Kai-Jian Zhang, Xin-Yu Zhou, Kai-Xi Quan, Zi-Wen Han, Wei-Chao Liu, Liang Tang, Yuan-Yuan Li, Simon T. Segar, Yuan-Ye Zhang, Xing-Hua Hu, Rong Wang, Xiao-Yong Chen

“…Despite high levels of inbreeding, we detected only 441 derived deleterious and 337 derived major-effect mutations, which were not significantly enriched in any KEGG pathway, providing evidence of low genetic loads. …”
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Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies by Federica Tamburrino, Laura Mazzanti, Dino Gibertoni, Concetta Schiavariello, Annamaria Perri, Eleonora Orlandini, Cesare Rossi, Marco Tartaglia, Marcello Lanari, Emanuela Scarano

“…BackgroundRASopathies, including Noonan syndrome and related disorders, are multisystem conditions caused by mutations in various genes encoding proteins involved in the RAS/MAPK signaling pathway resulting in increased signal flow. …”
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The p85 Regulatory Subunit of PI3K Mediates cAMP-PKA and Insulin Biological Effects on MCF-7 Cell Growth and Motility by E. Di Zazzo, A. Feola, C. Zuchegna, A. Romano, C. F. Donini, S. Bartollino, C. Costagliola, R. Frunzio, P. Laccetti, M. Di Domenico, A. Porcellini

“…To determine the molecular mechanism linking PKA to insulin-mediated PI3K activation, we used p85αPI3K mutated forms to prevent phosphorylation (p85A) or to mimic the phosphorylated residue (p85D). …”
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Multiomics profiling reveals the benefits of gamma-delta (γδ) T lymphocytes for improving the tumor microenvironment, immunotherapy efficacy and prognosis in cervical cancer by Xiaofeng Wang, Chen Li, Jie Chen, Zhiqiang Wu, Zhen Zhang, Junyi Li, Lu Yu, Yong Guan, Yuhan Zhang, Yuanjie Cao, Yancheng Liu, Hui Bai, Shaochuan Liu, Miaomiao Gao, Chenglu Lu, Zhen Tao, Zhiyong Yuan

“…As the cervix is a mucosa-rich tissue, the role of γδ T cells in cervical cancer warrants further investigation.Methods We employed a multiomics strategy that integrated abundant data from single-cell and bulk transcriptome sequencing, whole exome sequencing, genotyping array, immunohistochemistry, and MRI.Results Heterogeneity was observed in the level of γδ T-cell infiltration in cervical cancer tissues, mainly associated with the tumor somatic mutational landscape. Definitely, γδ T cells play a beneficial role in the prognosis of patients with cervical cancer. …”
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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. …”
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Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever by Rudy Feghali, José-Noel Ibrahim, Nabiha Salem, Romy Moussallem, Ghina Hijazi, Charbel Attieh, Tony Yammine, Alain Chebly, Alain Chebly

“…The genotype-phenotype correlation analysis revealed a more severe phenotype in patients carrying the M694V or V726A mutations compared to those with the homozygous E148Q genotype. …”
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The Association between LRRK2 G2385R and Phenotype of Parkinson’s Disease in Asian Population: A Meta-Analysis of Comparative Studies by Wei Di, Zhiyong Zeng, Jingyan Li, Xiaoling Liu, Minzhi Bo, Hua Lv

“…Our results suggested that most of the clinical characteristics of PD patients with LRRK2 G2385R mutations are similar to those of LRRK2 G2385R noncarriers among Asian PD patients, except for the more common family history, relatively longer disease duration, and higher MMSE scores in the former group.…”
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From Natural Hosts to Agricultural Threats: The Evolutionary Journey of Phytopathogenic Fungi by Asanka Madhushan, Dulan Bhanuka Weerasingha, Evgeny Ilyukhin, Paul W. J. Taylor, Amila Sandaruwan Ratnayake, Jian-Kui Liu, Sajeewa S. N. Maharachchikumbura

“…While sexual recombination is rare and mainly occurs at the center of origin of the pathogen, asexual mechanisms such as mutations, parasexual recombination, horizontal gene or chromosome transfer, and chromosomal structural variations are predominant. …”
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Risk Factors of Small Intestine Cancer: An Epidemiological Analysis and Their Role in Early Diagnosis - A Literature Review by Paweł Miklis, Michał Pniak, Maciej Mawlichanów, Adrian Różycki, Marta Wojtczak, Krzysztof Szerej, Aleksandra Ciesielska, Natalia Myśliwiec, Aleksandra Sieradzka, Alicja Kot

“…Conclusion: Genetic mutations, such as those in Lynch syndrome, FAP, and PJS, are significant risk factors, while lifestyle factors like diet, smoking, and obesity also play a role. …”
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Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations by Francisco José Toja-Camba, María Vidal-Millares, María José Durán-Maseda, Gonzalo Hermelo-Vidal, Ángel Carracedo, Olalla Maroñas, Luis Ramudo-Cela, Irene Zarra-Ferro, Anxo Fernández-Ferreiro, Cristina Mondelo-García

“…There was a clear trend towards lower ARI concentrations and higher DHA concentrations when the presence of mutated T alleles increases. The ABCB1 gene could be a good partner along with CYP2D6 and CYP3A4 genotyping in conjunction with monitoring ARI plasma concentrations.…”
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