Article
Cell Biology
Nikki M. McCormack, Mahlet B. Abera, Eveline S. Arnold, Rebecca M. Gibbs, Scott E. Martin, Eugen Buehler, Yu-Chi Chen, Lu Chen, Kenneth H. Fischbeck, Barrington G. Burnett
Summary: The study uncovered pathways regulating SMN expression, providing new insights for treating SMA.
Article
Oncology
Xukun Li, Fang Ding, Luhua Wang, Hongyan Chen, Zhihua Liu
Summary: Studies have shown that enhancer-regulated S100A14 acts as a tumor suppressor in esophageal squamous cell carcinoma (ESCC). Deficiency in S100A14 promotes tumorigenesis and decreases the survival of mice. S100A14 expression is regulated by enhancers, and disruption of enhancers leads to decreased S100A14 expression. Mechanistic investigation reveals that S100A14 deficiency triggers abnormal differentiation. Downregulation of S100A14 in ESCC tissues is associated with poorer overall survival.
Review
Oncology
Guo-Hua Li, Qiang Qu, Ting-Ting Qi, Xin-Qi Teng, Hai-Hong Zhu, Jiao-Jiao Wang, Qiong Lu, Jian Qu
Summary: Chemoresistance poses a significant challenge in cancer treatment, with super-enhancers (SEs) playing a key role in maintaining cancer cell identity and promoting oncogenic transcription. Inhibition of SE components can decrease oncogenic transcription, inhibit tumor growth, and ultimately achieve combined sensitization and reverse drug resistance effects.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2021)
Article
Multidisciplinary Sciences
Leo Shen, Lauren Pugsley, Regina Cencic, HanChen Wang, Francis Robert, Sai Kiran Naineni, Ananya Sahni, Genevieve Morin, Wenhan Zhang, Anastasia Nijnik, John A. Porco, David Langlais, Sidong Huang, Jerry Pelletier
Summary: The article discusses the mechanism of action and resistance mechanisms of eukaryotic translation initiation inhibitors rocaglates, identifying transcription factors FOXP3 and NR1I3 as potent modifiers of rocaglate response. Additionally, FOXP3 and NR1I3 confer a multi-drug resistant phenotype that can be reversed by inhibiting Pgp, suggesting a potential therapeutic combination strategy.
SCIENTIFIC REPORTS
(2021)
Article
Fisheries
Bingbing Yang, Sihan Lin, Bo Li, Zhe Wei, Qianqian Li, Xiuli Shen, Zhiqiang Du
Summary: This study identified an IEBF 2 homologue in the fresh water crayfish, Procambarus clarkii, and found that it may play a role in defending against bacterial infection. RNAi assays confirmed the importance of Pc-IEBF 2, with results showing decreased crayfish survival rates and increased bacteria proliferation when Pc-iebf 2 was knocked down. Possible molecular mechanisms for the innate immune regulation functions of Pc-IEBF 2 were also investigated.
DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Zhongye Dai, Rui Li, Yuying Hou, Qian Li, Ke Zhao, Ting Li, Mulin Jun Li, Xudong Wu
Summary: An inducible CRISPR activation system was developed for targeted gene regulation in mouse embryonic stem cells. Several CRISPRa-responsive elements with enhancer features were identified, providing insights into their roles in gene activation and cell differentiation.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Multidisciplinary Sciences
Chen Zhu, Jia-Hui Liu, Jian-Hua Zhao, Ting Liu, Yun-Ya Chen, Chun-Han Wang, Zhong-Hui Zhang, Hui-Shan Guo, Cheng-Guo Duan
Summary: A study has found that the fungal pathogen Verticillium dahliae counters cross-kingdom antifungal RNA interference (RNAi) by secreting a protein called VdSSR1. This protein suppresses the movement of small RNAs (sRNAs) between the host plant and the fungus, increasing the virulence of the fungus in plants.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biochemistry & Molecular Biology
Sandra Manzanero-Ortiz, Ana de Torres-Jurado, Rubi Hernandez-Rojas, Ana Carmena
Summary: This study demonstrated the connection between compromised asymmetric cell division and tumorigenesis using Drosophila larval brain neural stem cells as a model system. Through a pilot RNAi screen in a sensitized genetic background, 15 potential novel ACD regulators/tumor suppressor genes were identified.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biology
Madeline Sandoval, Zhe Ying, Slobodan Beronja
Summary: The study investigates how skin epithelium can accumulate oncogenic mutations without obvious consequences by inducing Hras G(12V) in single murine epidermal cells. It is found that the dynamic effect of Hras G(12V) on clonal expansion is attributed to the emergence of renewing progenitors and differentiating ones within the oncogenic clones, leading to stabilized oncogenic growth. Further research identifies Rassf5 as a novel regulator necessary for oncogene-specific differentiation.
Article
Microbiology
David W. Morgens, Divya Nandakumar, Allison L. Didychuk, Kevin J. Yang, Britt A. Glaunsinger
Summary: This study demonstrates the use of CRISPR/Cas9 to rapidly create and screen thousands of mutant viruses in Kaposi's sarcoma-associated herpesvirus (KSHV). By analyzing the expression of viral genes in these mutant viruses, a novel required gene was identified and its specific function was characterized using targeted deep viral sequencing.
Article
Biochemistry & Molecular Biology
Meng Yuan, Megan E. E. Barefoot, Kendell Peterson, Moray J. J. Campbell, Jan K. K. Blancato, Manjing Chen, Marcel O. O. Schmidt, Amber J. J. Kiliti, Hong-Bin Fang, Anton Wellstein, Anna T. T. Riegel, Ghada M. M. Sharif
Summary: Mutations in the ANKRD11/ANCO1 gene are implicated in neurodegenerative disorders and show loss of heterozygosity and low expression in certain cancers. This study demonstrates that low ANCO1 mRNA and protein expression levels are prognostic markers for poor clinical outcomes in breast cancer, particularly in the triple-negative subtype. Knockdown of ANCO1 in early-stage triple-negative breast cancer cells promotes aneuploidy, cellular senescence, and enhanced invasion. Loss of ANCO1 expression activates breast-cancer-specific enhancers and oncogenic pathways, accelerating the early-stage progression of breast cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Ana Lopez-Varea, Cristina M. Ostale, Patricia Vega-Cuesta, Ana Ruiz-Gomez, Maria F. Organista, Mercedes Martin, Covadonga F. Hevia, Cristina Molnar, Jesus de Celis, Joaquim Culi, Nuria Esteban, Jose F. de Celis
Summary: A study was conducted on a group of UAS-RNAi lines targeting Drosophila genes, identifying a significant number of genes that affect wing formation in fruit flies, resulting in changes in wing size, vein differentiation, wing margin defects, and dorsal-ventral wing surface apposition. Categorizing genes into functional groups helped in determining enriched mutant phenotypes within each group. Integrating expression, phenotypic, and molecular information provided precision in identifying genes affecting wing formation and regulated biological processes.
G3-GENES GENOMES GENETICS
(2021)
Article
Plant Sciences
Yuan Lin, Hainan Zhao, Magdalena Kotlarz, Jiming Jiang
Summary: Gene expression is regulated by interactions between cis-regulatory DNA elements (CREs) and regulatory proteins. Enhancers play a crucial role in this process, especially in eukaryotes, but little is known about the molecular mechanisms involved in plants. Researchers identified a distal enhancer, CRE beta, which regulates gene expression in response to osmotic pressure, and established a forward genetic screen pipeline to identify trans-regulatory factors associated with CRE beta function and the regulation of the endogenous gene AtDGK7.
Article
Genetics & Heredity
Ana Lopez-Varea, Cristina M. Ostale, Patricia Vega-Cuesta, Ana Ruiz-Gomez, Maria F. Organista, Mercedes Martin, Covadonga F. Hevia, Cristina Molnar, Jesus de Celis, Joaquim Culi, Nuria Esteban, Jose F. de Celis
Summary: Through knocking down genes targeting Drosophila protein-coding genes in adult wing, critical genes affecting wing development were identified and further classified and analyzed for their functions and expressions, offering valuable information for a deeper understanding of the biological processes involved in wing formation.
G3-GENES GENOMES GENETICS
(2021)
Article
Genetics & Heredity
Noemi Candia, Andres Ibacache, Ignacio Medina-Yanez, Gonzalo H. Olivares, Mauricio Ramirez, Franco Vega-Macaya, Andres Couve, Jimena Sierralta, Patricio Olguin
Summary: Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by dysfunction of corticospinal motor neurons. Mutations in Atlastin1/Spg3 gene account for 10% of HSPs and patients with the same mutation show variability in age at onset and severity, indicating the involvement of environment and genetic background.
Article
Clinical Neurology
Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonca, Isabel Alonso, Alda Sousa, Carolina Lemos
ANNALS OF NEUROLOGY
(2019)
Article
Geriatrics & Gerontology
Ricardo Taipa, Sofia P. das Neves, Ana L. Sousa, Joana Fernandes, Claudia Pinto, Ana P. Correia, Ernestina Santos, Pedro S. Pinto, Paula Carneiro, Patricio Costa, Diana Santos, Isabel Alonso, Joana Patna, Fernanda Marques, Sara Cavaco, Nuno Sousa
NEUROBIOLOGY OF AGING
(2019)
Article
Clinical Neurology
Andreia Dias, Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2019)
Article
Clinical Neurology
Claudia Marques Matos, Isabel Alonso, Miguel Leao
JOURNAL OF CLINICAL NEUROSCIENCE
(2019)
Letter
Clinical Neurology
Maria Joao Malaquias, Isabel Fineza, Leal Loureiro, Luis Cardoso, Isabel Alonso, Marina Magalhaes
NEUROLOGICAL SCIENCES
(2019)
Article
Endocrinology & Metabolism
Rita Santos-Silva, Marta Rosario, Ana Grangeia, Carla Costa, Cintia Castro-Correia, Isabel Alonso, Miguel Leao, Manuel Fontoura
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2019)
Article
Multidisciplinary Sciences
Mariana Santos, Sara Morais, Conceicao Pereira, Jorge Sequeiros, Isabel Alonso
SCIENTIFIC REPORTS
(2019)
Article
Clinical Neurology
Rita Rodrigues, Renata Silva, Mariana Branco, Eva Brandao, Isabel Alonso, Luis Ruano, Jose Leal Loureiro
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2020)
Article
Biochemistry & Molecular Biology
Miguel Alves-Ferreira, Ana Azevedo, Teresa Coelho, Diana Santos, Jorge Sequeiros, Isabel Alonso, Alda Sousa, Carolina Lemos
Summary: This study identified 11 rare variants associated with the age-at-onset of symptoms in Portuguese ATTRV30M carriers. The findings suggest that variants within the TTR gene may play a role in modifying disease expressivity and warrant further exploration as potential therapeutic targets in the future.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2021)
Letter
Clinical Neurology
Rui Duarte Barreto, Rita Rodrigues, Jose Mario Roriz, Isabel Alonso, Marina Magalhaes
PARKINSONISM & RELATED DISORDERS
(2021)
Letter
Clinical Neurology
Joana Afonso Ribeiro, Mario Sousa, Isabel Alonso, Fradique Moreira, Ricardo Pereira, Filipe Palavra
MOVEMENT DISORDERS CLINICAL PRACTICE
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
D. Santos, J. Damasio, S. Morais, C. Pereira, M. Santos, J. Sequeiros, I. Alonso
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Clinical Neurology
M. Alves-Ferreira, J. L. Neto, J. Pereira-Monteiro, J. Sequeiros, I. Alonso, A. Sousa, C. Lemos
Letter
Clinical Neurology
Clara Marecos, Sofia Duarte, Isabel Alonso, Eulalia Calado, Ana Moreira
REVISTA DE NEUROLOGIA
(2018)