Article
Biochemistry & Molecular Biology
Xingwang Kuai, Jiaying Lv, Junyu Zhang, Manyu Xu, Juling Ji
Summary: Through comprehensive analysis of TCGA datasets, it was found that SERPINA1 is dysregulated in multiple cancers and associated with immunoregulation and prognosis. Its expression is significantly correlated with prognosis, immune subtype, molecular subtype, ICP genes, TMB, MSI, and ESTIMATE score. SERPINA1 is closely related to tumor-infiltrating lymphocytes and immune cell gene markers in digestive tumors. Multiplex immunohistochemistry confirmed the association of SERPINA1 protein expression with clinicopathologic features and immune infiltrates in hepatic cancer. This study suggests that SERPINA1 can serve as a potential biomarker for cancer prognosis and immunotherapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Fei Hu, Ziyi Ye, Kui Dong, Weimeng Zhang, Da Fang, Jun Cao
Summary: Cupin superfamily proteins have extensive functions and play important roles in plant development and stress response. However, research on these proteins has been relatively neglected. This article summarizes recent research progress on Cupin family genes, including their evolution, structural characteristics, and biological functions. The significance of Cupin members in plant development and stress response is highlighted, and the potential application of Cupin proteins in crop enhancement is introduced. The findings will provide a foundation for future effective crop research and breeding.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2023)
Review
Medicine, General & Internal
Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko
Summary: Alpha-1 antitrypsin deficiency (AATD) is a common inherited disorder that increases the risk of pulmonary disease. The clinical presentation of AATD is highly variable and not strongly linked to genotype and environmental exposure. Genetic factors play a role in the variability of AATD, but their exact role is still unclear. In this review, we summarize the current understanding of epigenetic and genetic modifiers of pulmonary dysfunction in AATD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biology
Muhammad Salim Hakeemi, Salim Ansari, Matthias Teuscher, Matthias Weisskopf, Daniela Grossmann, Tobias Kessel, Juergen Doenitz, Janna Siemanowski, Xuebin Wan, Dorothea Schultheis, Manfred Frasch, Siegfried Roth, Michael Schoppmeier, Martin Klingler, Gregor Bucher
Summary: By systematically comparing the gene sets required for homologous but divergent developmental processes between fruit flies and beetles, the study found that the differences in these gene sets are greater than previously believed. Therefore, the insights gained from fruit flies may not be as representative for insects or protostomes as previously thought, and further research in complementary model systems is necessary to obtain a comprehensive understanding.
Article
Genetics & Heredity
Lifen Chen, Junqi Wang, Wenli Lu, Yuan Xiao, Jihong Ni, Wei Wang, Xiaoyu Ma, Zhiya Dong
Summary: The prevalence of hypospadias is increasing in Chinese patients, with SRD5A2 and AR genes identified as top candidate genes associated with 46, XY hypospadias. A novel missense mutation in the AR gene was discovered, providing further insights for future research.
FRONTIERS IN GENETICS
(2021)
Article
Oncology
Marc A. Schneider, Sarah Richtmann, Anna R. Grunding, Sabine Wrenger, Tobias Welte, Michael Meister, Mark Kriegsmann, Hauke Winter, Thomas Muley, Sabina Janciauskiene
Summary: This study found that lower expression of TMPRSS2 in tumor tissues is associated with poor overall survival in patients with lung adenocarcinoma. The correlation between AAT and TMPRSS2 proteins requires further investigation.
INTERNATIONAL JOURNAL OF ONCOLOGY
(2022)
Article
Geriatrics & Gerontology
Roshini Sathiaseelan, Bumsoo Ahn, Michael B. Stout, Sreemathi Logan, Jonathan Wanagat, Hoang Van M. Nguyen, Norman G. Hord, Amy R. Vandiver, Ramasamy Selvarani, Rojina Ranjit, Hannah Yarbrough, Anthony Masingale, Benjamin F. Miller, Roman F. Wolf, Steven N. Austad, Arlan Richardson
Summary: We generated a genetically heterogeneous rat model by crossbreeding four inbred strains. This model provides a genetically diverse rat model for researchers. The mitochondrial genotypes of the rats differ at 94 nucleotides, resembling human mitochondrial genome diversity.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Multidisciplinary Sciences
Jianhua Huang, Jiani Chen, Gangqi Fang, Lan Pang, Sicong Zhou, Yuenan Zhou, Zhongqiu Pan, Qichao Zhang, Yifeng Sheng, Yueqi Lu, Zhiguo Liu, Yixiang Zhang, Guiyun Li, Min Shi, Xuexin Chen, Shuai Zhan
Summary: The study reveals that a novel protein allows a generalist parasitoid to actively suppress the host immune system by lysing the host lymph glands, while another protein helps a specialist parasitoid escape the host immune response by attaching eggs to the host organs. These different parasitic strategies originated from lateral gene transfer, highlighting their importance in host adaptation.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Berend Snel, Sander van den Heuvel, Michael F. Seidl
Summary: The study found that the PRC2 core in Caenorhabditis elegans contains a highly divergent ortholog, similar to other animals. This finding further supports previous genetic and biochemical studies.
Article
Gastroenterology & Hepatology
Lorenz Balcar, Georg Semmler, Hannes Oberkofler, Stephan Zandanell, Michael Strasser, Leonora Datz, David Niederseer, Alexandra Feldman, Felix Stickel, Christian Datz, Bernhard Paulweber, Elmar Aigner
Summary: The study revealed that the G allele of PNPLA3 gene was associated with higher LSM and presence of ACLD. The Z allele of SERPINA1 gene was also independently associated with LSM. Combining these risk alleles into a polygenic risk-score was significantly associated with LSM.
DIGESTIVE AND LIVER DISEASE
(2022)
Article
Biochemistry & Molecular Biology
Riccardo Ronzoni, Ilaria Ferrarotti, Emanuela D'Acunto, Alice M. Balderacchi, Stefania Ottaviani, David A. Lomas, James A. Irving, Elena Miranda, Annamaria Fra
Summary: Alpha-1-antitrypsin (AAT) deficiency leads to pulmonary and liver diseases due to imbalanced protease activity and deposition of AAT variants. The new variant Bologna AAT (N186Y) shows secretion deficiency and intracellular polymer accumulation, disrupting hydrogen bonding network in the AAT shutter region. This highlights the importance of understanding structural mechanisms in AAT polymer formation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Annelot D. Sark, Malin Fromme, Beata Olejnicka, Tobias Welte, Pavel Strnad, Sabina Janciauskiene, Jan Stolk
Summary: This study investigates the association between levels of circulating Z-AAT polymers and the severity of lung disease and liver disease. The results show that plasma Z-AAT polymer levels are correlated with liver function but not with lung function.
Article
Endocrinology & Metabolism
Jian Zhao, Xianfei Xie, Bo Xia, Peng Ning, Yong Xu, Qiang Zhao
Summary: This study highlights the significance of the autophagy-related gene SERPINA1 in the occurrence and metastasis of osteosarcoma, as well as its association with the tumor microenvironment and immune response.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2022)
Article
Biochemistry & Molecular Biology
Chia-Chun Wu, Yu-Ting Lu, Ta-Sen Yeh, Yun-Hsin Chan, Srinivas Dash, Jau-Song Yu
Summary: In this study, novel plasma glycobiomarkers of pancreatic cancer were identified using quantitative proteomics approach. Fucosylated SERPINA1 was found to have potential diagnostic and prognostic value for pancreatic cancer. Further validation showed that elevated levels of fucosylated SERPINA1 were associated with advanced TNM stage and poorer overall survival, supporting its utility as a novel prognosticator for pancreatic cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Dengpan Fang, Yuanqiao He, Yun Yi, Jiaqi Mei, Cundong Liu
Summary: In this study, a prognostic model with seven hub genes has been constructed to predict the prognosis of bladder cancer patients. XPO1 has been identified as an important target affecting the prognosis of bladder cancer, and the inhibition of XPO1 can effectively suppress the proliferation and growth of bladder cancer.
Article
Health Care Sciences & Services
Miriam Cervan-Martin, Lara Bossini-Castillo, Rocio Rivera-Egea, Nicolas Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, Jose A. Castilla, M. Carmen Gonzalvo, Ana Clavero, F. Javier Vicente, Andrea Guzman-Jimenez, Claudia Costa, Ines Llinares-Burguet, Chiranan Khantham, Miguel Burgos, Francisco J. Barrionuevo, Rafael Jimenez, Josvany Sanchez-Curbelo, Olga Lopez-Rodrigo, M. Fernanda Peraza, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Lluis Bassas, Susana Seixas, Joao Goncalves, Sara Larriba, Alexandra M. Lopes, Rogelio J. Palomino-Morales, F. David Carmona
Summary: The study identified a significant difference in allele frequencies of USP8-rs7174015 between the NOA group, the control group, and the SO group, suggesting a possible association of this gene with male infertility. Other genetic associations were found for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO, as well as TUSC1-rs10966811 with TESE success in the context of non-obstructive azoospermia.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Oncology
Giovanni Corso, Federica Corso, Federica Bellerba, Patricia Carneiro, Susana Seixas, Antonio Cioffi, Carlo La Vecchia, Francesca Magnoni, Bernardo Bonanni, Paolo Veronesi, Sara Gandini, Joana Figueiredo
Summary: E-cadherin germline mutations, particularly CDH1 gene mutations, are associated with hereditary diffuse gastric cancer syndrome. The frequency of CDH1 mutations varies across different geographical areas, with a higher incidence in low-prevalence countries. The type and relative frequency of CDH1 mutations also differ between study groups and regions, with missense variants more common in high-incidence areas. Identifying individuals with clinically significant CDH1 mutations is crucial for effective genetic screening and patient management in gastric cancer.
Article
Oncology
Joana Figueiredo, Rui M. Ferreira, Han Xu, Margarida Goncalves, Andre Barros-Carvalho, Janine Cravo, Andre F. Maia, Patricia Carneiro, Ceu Figueiredo, Michael L. Smith, Dimitrije Stamenovic, Eurico Morais-de-Sa, Raquel Seruca
Summary: Research has shown that mutations in E-cadherin lead to abnormal interactions of cells with specific ECM components, resulting in increased traction forces and activation of Integrin beta 1, which promotes cell scattering and invasion. This crosstalk between E-cadherin and Integrin beta 1 is validated in Drosophila models and human gastric carcinomas, where low E-cadherin and high Integrin beta 1 levels are associated with increased tumour grade and poor survival. Integrin beta 1 is identified as a key mediator of invasion in carcinomas with E-cadherin impairment and a biomarker of poor prognosis in gastric cancer.
Article
Cell & Tissue Engineering
Manuella Martins, Silvia Galfre, Marco Terrigno, Luca Pandolfini, Irene Appolloni, Keagan Dunville, Andrea Marranci, Milena Rizzo, Alberto Mercatanti, Laura Poliseno, Francesco Morandin, Marco Pietrosanto, Manuela Helmer-Citterich, Paolo Malatesta, Robert Vignali, Federico Cremisi
Summary: This study investigates the expression and stability of key transcription factors in developing mouse cortical cells, with a focus on SATB2 mRNA. It suggests that early inhibition of SATB2 translation may be released during development. Additionally, miR541 and miR-92a/b are identified as potential regulators of SATB2 inhibition, impacting cortical cell identities timing.
Article
Biochemistry & Molecular Biology
Silvia C. Rodrigues, Renato M. S. Cardoso, Claudia F. Gomes, Filipe Duarte, Patricia C. Freire, Ricardo Neves, Joana Simoes-Correia
Summary: The development and adoption of cell therapies have been hindered by safety concerns, leading to an increased interest in extracellular vesicles (EV) as a safer and potentially more effective alternative. However, further research is needed to fully understand the toxicity profile of EV.
Article
Multidisciplinary Sciences
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D'Hauwers, E. Schaafsma, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tuettelmann, M. K. O'Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Summary: This study examines the role of de novo mutations in severe male infertility. Through trio-based exome sequencing, the researchers identified a significant enrichment of loss-of-function de novo mutations in infertile men. They also identified a new candidate gene, RBM5, which is associated with male infertility. This study provides evidence for the importance of de novo mutations in male infertility and identifies potential genetic causes.
NATURE COMMUNICATIONS
(2022)
Article
Oncology
Han Xu, Katie A. Bunde, Joana Figueiredo, Raquel Seruca, Michael L. Smith, Dimitrije Stamenovic
Summary: Tensional homeostasis is crucial for maintaining cellular and tissue integrity, and its disruption is associated with disease progression, including cancer. This study investigates the impact of E-cadherin mutations on tensional homeostasis in gastric cancer cells. The findings suggest that mutations affecting specific domains of E-cadherin impair tensional homeostasis. Understanding the mechanisms underlying tensional homeostasis could offer new insights into disease progression and potential therapeutic interventions.
Review
Oncology
Agata Janowska, Michela Iannone, Cristian Fidanzi, Marco Romanelli, Luca Filippi, Marzia Del Re, Manuella Martins, Valentina Dini
Summary: This paper reviews the genetic profile of melanoma cells from their appearance, through the dormant state to their reactivation leading to metastasis. A complete genetic profile will identify the genes responsible for metastasis appearance, contributing to the creation of new therapeutic targets that keep cells in a dormant state and prevent melanoma tumor cells from spreading.
Article
Biochemistry & Molecular Biology
Ana M. Moreira, Rui M. Ferreira, Patricia Carneiro, Joana Figueiredo, Hugo Osorio, Jose Barbosa, John Preto, Perpetua Pinto-do-O, Fatima Carneiro, Raquel Seruca
Summary: The extracellular matrix (ECM) plays a crucial role in the development and progression of gastric cancer. Through proteomic analysis, we identified a common ECM signature in gastric cancer and normal mucosa, and found that remodeling of gastric ECM promotes tumor progression. Additionally, we identified COL10A1 and other differentially expressed ECM proteins as important biomarkers in gastric cancer, with some ECM proteins correlating with patient prognosis.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Health Care Sciences & Services
Miriam Cervan-Martin, Lara Bossini-Castillo, Andrea Guzman-Jimenez, Rocio Rivera-Egea, Nicolas Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, Jose A. Castilla, M. Carmen Gonzalvo, Ana Clavero, F. Javier Vicente, Vicente Maldonado, Sara Gonzalez-Munoz, Inmaculada Rodriguez-Martin, Miguel Burgos, Rafael Jimenez, Maria Graca Pinto, Isabel Pereira, Joaquim Nunes, Josvany Sanchez-Curbelo, Olga Lopez-Rodrigo, Iris Pereira-Caetano, Patricia Isabel Marques, Filipa Carvalho, Alberto Barros, Lluis Bassas, Susana Seixas, Joao Goncalves, Sara Larriba, Alexandra M. Lopes, F. David Carmona, Rogelio J. Palomino-Morales
Summary: This study aimed to analyze the role of common genetic variants in the PIN1 gene locus in the genetic risk of male infertility. The study found that certain non-coding single-nucleotide polymorphisms in PIN1 were associated with the Sertoli cell-only syndrome in male infertility patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Immunology
Rui M. Ferreira, Joana Figueiredo, Ines Pinto-Ribeiro, Irene Gullo, Dionyssios N. Sgouras, Laura Carreto, Patricia Castro, Manuel A. Santos, Fatima Carneiro, Raquel Seruca, Ceu Figueiredo
Summary: Helicobacter pylori infection induces overexpression of laminin gamma 2 in gastric cancer cells, promoting cell invasion and resistance to apoptosis through modulation of Src, JNK, and AKT activity. Laminin gamma 2 and its downstream effectors could be potential therapeutic targets, and H. pylori eradication may delay the onset and progression of gastric cancer.
JOURNAL OF INFECTIOUS DISEASES
(2022)
Letter
Respiratory System
M. J. V. Silva, S. Seixasb, M. J. Canotilhoa, S. FeijOa
Meeting Abstract
Respiratory System
J. Chorostowska-Wynimko, I. Belmonte, M. Balduyck, T. P. Carroll, T. Greulich, N. G. Mcelvaney, M. Miravitlles, F. Rodriguez-Frias, M. Odou, S. Ottaviani, A. Rozy, S. Seixas, G. Orriols Torras, M. Veith, F. Zerimech, A. G. Corsico, I. Ferrarotti
EUROPEAN RESPIRATORY JOURNAL
(2022)
Meeting Abstract
Respiratory System
J. Chorostowska-Wynimko, M. Balduyck, T. P. Carroll, T. Greulich, N. G. Mcelvaney, M. Miravitlles, F. Rodriguez-Frias, M. Odou, S. Ottaviani, D. Parr, A. Rozy, S. Seixas, G. Orriols Torras, M. Veith, F. Zerimech, A. G. Corsico, I. Ilaria Ferrarotti
EUROPEAN RESPIRATORY JOURNAL
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Hannah E. Smith, Manon S. Oud, Roos M. Smits, Francesco K. Mastrorosa, Giles S. Holt, Brendan J. Houston, Petra F. de Vries, Bilal K. S. Alobaidi, Lois Batty, Hadeel Ismail, Jackie Greenwood, Harsh Sheth, Aneta Mikulasova, Galuh Astuti, Christian Gilissen, Kevin McEleny, Helen Turner, Jonathan Coxhead, Simon Cockell, Didi D. M. Braat, Kathrin Fleischer, Kathleen W. M. D'Hauwers, E. Schaafsma, Don Conrad, Corinna Friedrich, Sabine Kliesch, Kenneth I. Aston, Antoni Riera-Escamilla, Csilla Krausz, Claudia Gonzaga-Jauregui, Mauro Santibanez-Koref, David J. Elliott, Lisenka E. L. M. Vissers, Frank Tuettelmann, Moira K. O'Bryan, Liliana Ramos, Miguel J. Xavier, Godfried W. van der Heijden, Joris A. Veltman
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)