Showing 241 - 260 results of 266 for search '"phenotype"', query time: 0.07s Refine Results
  1. 241

    Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report by Carolin Seeling, Sonja Dahlum, Ralf Marienfeld, Vera Jan, Brigitte Rack, Uwe Gerstenmaier, Ambros J. Beer, Regine Mayer-Steinacker, Wolfgang Thaiss, Thomas F. E. Barth, Thomas Seufferlein, Nadine T. Gaisa, Stephan Stilgenbauer, Wolfgang Janni, Reiner Siebert, Hartmut Döhner, Verena I. Gaidzik

    Published 2025-01-01
    “…Conclusions In the era of accessible and comprehensive genetic and phenotypic tumor profiling, this case study of a patient with Li-Fraumeni syndrome underscores the success of precision oncology in harnessing additional somatic oncogenic driver alterations. …”
    Get full text
    Article
  2. 242

    GmERF57 negatively regulates root development and phosphate absorption in soybean by Hongqing Zhu, Dandan Hu, Yifei Yang, Xuhao Zhai, Shanshan Zhang, Mengshi He, Huifang Zuo, Lina Zhang, Mengjun Xu, Shanshan Chu, Haiyan Lü, Hengyou Zhang, Yu Zhang, Dan Zhang

    Published 2025-03-01
    “…Silencing GmERF57 expression promoted root development and enhanced plant Pi uptake; conversely, overexpression of GmERF57 yielded contrasting phenotypes compared to silenced roots. We further uncovered that GmERF57 physically interacts with GmTUB1 (β-tubulin protein) and modulates soybean root architecture and Pi uptake capacity by downregulating GmTUB1 and other Pi starvation response genes. …”
    Get full text
    Article
  3. 243

    Comparative evaluation of cell-based assay technologies for scoring drug-induced condensation of SARS-CoV-2 nucleocapsid protein by Rui Tong Quek, Cyna R. Shirazinejad, Christina L. Young, Kierra S. Hardy, Samuel Lim, Phillip J. Elms, David T. McSwiggen, Timothy J. Mitchison, Pamela A. Silver

    Published 2025-03-01
    “…These approaches lack information on protein dynamics, are limited by microscope resolution, and are insensitive to subtle condensation phenotypes missed by overfit analysis pipelines. Here, we evaluate two alternative cell-based assays: high-throughput single molecule tracking (htSMT) and proximity-based condensate biosensors using NanoBIT (split luciferase) and NanoBRET (bioluminescence resonance energy transfer) technologies. …”
    Get full text
    Article
  4. 244

    Optimizing fully-efficient two-stage models for genomic selection using open-source software by Javier Fernández-González, Julio Isidro y Sánchez

    Published 2025-02-01
    “…Single-stage models predict GEBVs from phenotypic observations in one step, fully accounting for the entire variance-covariance structure among genotypes, but face computational challenges. …”
    Get full text
    Article
  5. 245

    Linking obesity-associated genotype to child language development: the role of early-life neurology-related proteomics and brain myelinationResearch in context by Jian Huang, Jinyi Che, Michelle Z.L. Kee, Ai Peng Tan, Evelyn C. Law, Patricia Pelufo Silveira, Irina Pokhvisneva, Sachin Patel, Keith M. Godfrey, Lourdes Mary Daniel, Kok Hian Tan, Yap Seng Chong, Shiao-Yng Chan, Johan G. Eriksson, Dennis Wang, Jonathan Yinhao Huang

    Published 2025-03-01
    “…Interpretation: This study demonstrates the potential of examining early-life proteomics in conjunction with deep genotyping and phenotyping and provides biological insights into the shared genomic links between obesity and language development. …”
    Get full text
    Article
  6. 246

    Molecular characterization of putative antibiotic resistance determinant and virulence factors genes of Acinetobacter baumannii strains isolated from intensive care unit patients i... by Faris A. Alanazi, Khalid S. Almaary, Turki M. Dawoud, Mohamed A. El-Tayeb, Yahya B. Elbadawi, Ayman S. Mubarak, Ali M. Somily

    Published 2025-04-01
    “…Method: The A. baumannii isolates were confirmed by the VITEK-2 automated system and 16S rRNA phylogenetic relatedness. The phenotypic and genotypic resistance patterns of these isolates were also analyzed using conventional and molecular methods. …”
    Get full text
    Article
  7. 247

    Influence of sacroiliac joint variation on clinical features of axial spondyloarthritis: a comparative analysis by Denis Poddubnyy, Torsten Diekhoff, Sevtap Tugce Ulas, Fabian Proft, Valeria Rios Rodriguez, Judith Rademacher, Juliane Greese, Katharina Ziegeler, Carolina Dominguez Aleixo, Maximilian Lindholz

    Published 2025-02-01
    “…Sex-stratified analysis revealed no statistically significant results.Conclusion Our analysis suggests that clinical phenotypes do not significantly differ between patients with axSpA with and without atypical joints.…”
    Get full text
    Article
  8. 248

    Molecular insight into reproductive toxicity and transgenerational effects of Cadmium exposure on Drosophila melanogaster by Yi Pan, Ke Fan, Linhao Zong, Yantao Luo, Xin Ni, Dong Chen, Jinjun Qian, Fei Ma, Jie Cheng, Miao Guan

    Published 2025-02-01
    “…At the epigenetic level, Cd could perturb fecundity across generations by modulating Dnmt2 expression, a pivotal regulator of methylation processes. Moreover, despite phenotypic recovery in F4, persistent molecular changes indicate enduring toxicity, highlighting the need for vigilance against environmental Cd contamination and its long-term effects. …”
    Get full text
    Article
  9. 249

    From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases by Qing Zhao, Linxin Wei, Youxin Chen

    Published 2025-03-01
    “…Recent advancements have demonstrated the technology's potential to restore cellular homeostasis and alleviate disease phenotypes, thereby prompting a variety of clinical trials. …”
    Get full text
    Article
  10. 250

    Dynamic 19F-MRI of pulmonary ventilation in lung transplant recipients with and without chronic lung allograft dysfunction by Mary A. Neal, PhD, Saskia Bos, MD, PhD, Charlotte W. Holland, MRCP, Kieren G. Hollingsworth, Gerard Meachery, FRCP, Arun Nair, MD, FRCP, James L. Lordan, FRCP, Andrew J. Fisher, FRCP, PhD, Peter E. Thelwall, PhD

    Published 2025-02-01
    “…Background: By the time chronic lung allograft dysfunction (CLAD), with its main phenotypes bronchiolitis obliterans syndrome (BOS) and restrictive allograft syndrome (RAS), is diagnosed by pulmonary function testing, irreversible damage to the lung allograft may already have occurred. …”
    Get full text
    Article
  11. 251

    CSF3 promotes colorectal cancer progression by activating p65/NF-κB signaling pathway and inducing an immunosuppressive microenvironment by Junfeng Xu, Na Li, Hui Xie, Changwei Duan, Xingchen Liao, Ruoran Li, Heng Zhang, Yuanming Pan, Xianzong Ma, Shuwen Du, Jianqiu Sheng, Xin Wang, Lang Yang, Peng Jin

    Published 2025-03-01
    “…In vitro and in vivo assays were performed to investigate the oncogenic function of CSF3 in the tumor associated malignant phenotypes and the tumorigenic capability of CRC cells. …”
    Get full text
    Article
  12. 252

    Incidence of methicillin, inducible clindamycin, and vancomycin resistance in Staphylococcus aureus clinical isolates in Gombe, Northeastern Nigeria by Haruna Adamu, Celestina T. Otegwu, Fatima B. Abdullahi, Babajide A. Tytler, Busayo O. Olayinka

    Published 2025-03-01
    “…Among the isolates that are phenotypically resistant to methicillin and vancomycin, 20 % of the isolates harbor mecA and vanA but none harbor both genes. …”
    Get full text
    Article
  13. 253

    Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS by Rong Liang, Bixia Zheng, Chunli Wang, Sanlong Zhao, Wei Zhou, Ying Chen, Ruochen Che

    Published 2025-02-01
    “…Conclusions Two patients with Townes-Brocks syndrome (TBS) harboring novel variants presented atypical phenotypes, characterized primarily by significant and rapidly progressing renal involvement. …”
    Get full text
    Article
  14. 254

    Hypoxia-inducible factor 1α is required to establish the larval glycolytic program in Drosophila melanogaster by Yasaman Heidarian, Tess D. Fasteen, Liam Mungcal, Kasun Buddika, Nader H. Mahmoudzadeh, Travis Nemkov, Angelo D'Alessandro, Jason M. Tennessen

    Published 2025-03-01
    “…Results: Our studies reveal that sima mutants fail to activate aerobic glycolysis and die during larval development with metabolic phenotypes that mimic those displayed by dERR mutants. …”
    Get full text
    Article
  15. 255

    Systematic Review and Meta-Analysis on Human African Trypanocide Resistance by Keneth Iceland, Kasozi, Ewan Thomas, MacLeod, Susan Christina, Welburn

    Published 2023
    “…Treatment failure rates were highest with melarsoprol followed by eflornithine at 41.49% (95% CI: 24.94–59.09) and 6.56% (3.06–11.25) respectively. HATr-resistant phenotypes used in most laboratory experiments demonstrated significantly higher pentamidine resistance than other trypanocides. …”
    Get full text
    Article
  16. 256

    Codon usage patterns and genomic variation analysis of chloroplast genomes provides new insights into the evolution of Aroideae by Xinbi Jia, Jiaqi Wei, Yuewen Chen, Chenghong Zeng, Chan Deng, Pengchen Zeng, Yufei Tang, Qinghong Zhou, Yingjin Huang, Qianglong Zhu

    Published 2025-02-01
    “…It is difficult to identify and classify Aroideae species accurately on the basis of morphology alone because of their polymorphic phenotypic traits. The chloroplast genome (CPG) is useful for studying on plant taxonomy and phylogeny, and the analysis of codon usage bias (CUB) in CPGs provides further insights into the intricate phylogenetic relationships among Aroideae. …”
    Get full text
    Article
  17. 257

    HINT1 suppression protects against age-related cardiac dysfunction by enhancing mitochondrial biogenesis by Michio Sato, Tsuyoshi Kadomatsu, Jun Morinaga, Yuya Kinoshita, Daisuke Torigoe, Haruki Horiguchi, Sumio Ohtsuki, Shuji Yamamura, Ryoko Kusaba, Takanori Yamaguchi, Goro Yoshioka, Kimi Araki, Tomohiko Wakayama, Keishi Miyata, Koichi Node, Yuichi Oike

    Published 2025-03-01
    “…In addition, cardiac aging phenotypes and mitochondrial biogenesis were also analyzed in 25-month-old cardiac-specific Hint1 knockout mice, 24-month-old CAG-Caren Tg mice, and 24-month-old wild-type mice injected with AAV6-Caren. …”
    Get full text
    Article
  18. 258

    Application of deep learning models on single-cell RNA sequencing analysis uncovers novel markers of double negative T cells by Tian Xu, Qin Xu, Ran Lu, David N. Oakland, Song Li, Liwu Li, Christopher M. Reilly, Xin M. Luo

    Published 2024-12-01
    “…Together, our comprehensive analysis has uncovered and validated novel markers for different subpopulations of DNT cells that can be used in the phenotypic and/or functional characterization of these relatively rare cells in health and disease.…”
    Get full text
    Article
  19. 259

    Factors influencing the natural history of non-IgE-mediated gastrointestinal food allergies in paediatric age: a prospective multicentre cohort study by Giorgio Bedogni, Roberto Berni Canani, Laura Carucci, Rita Nocerino, Serena Coppola, Pasqualina Capasso, Veronica Giglio

    Published 2025-02-01
    “…At 24-month follow-up, the rate of patients with allergic march was 0.46 (95% CI 0.38 to 0.55, n=57/123), without differences comparing the four phenotypes. The presence of multiple FAs at baseline was associated with an increased risk of developing allergic march (OR=2.22, 95% CI 1.07 to 4.61) at 24-month follow-up.Conclusions The results of the study suggest the potential role of modifiable and non-modifiable risk factors influencing the natural history of paediatric patients affected by non-IgE-GIFA.…”
    Get full text
    Article
  20. 260

    Exploring the genotypic potential of perilla (Perilla frutescens L.) for climate-resilient agriculture in the North Eastern Himalayas by Meraj Alam Ansari, Meraj Alam Ansari, Amit Kumar, T. P. Ahammed Shabeer, Alok Kumar, Subhra Saikat Roy, Subhra Saikat Roy, Majhrool Hak Ansari, Raghavendra Singh, Raghavendra Singh, Moirangthem Sangeeta, Jayanta Layek, Narendra Prakash, Vinay K. Mishra

    Published 2025-02-01
    “…To dissect the genetic basis, we evaluated 28 diverse genotypes of perilla across three growing seasons for eight agronomic traits and 16 biochemical traits, which revealed substantial phenotypic and biochemical variation. Agronomic traits displayed significant variability, with seed yield showing the highest coefficient of variation (CV), while leaf length showed the lowest CV. …”
    Get full text
    Article