Article
Hematology
Binal N. Shah, Xu Zhang, Adelina I. Sergueeva, Galina Y. Miasnikova, Tomas Ganz, Josef T. Prchal, Victor R. Gordeuk
Summary: Von Hippel-Lindau protein (VHL) is crucial for regulating cellular processes under hypoxic conditions. Mutations in VHLR200W lead to Chuvash erythrocytosis, a congenital disorder characterized by heightened hypoxia sensing. Increased levels of HIFs, which are regulated by VHL, result in elevated erythropoietin gene transcription and hematocrit levels.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Chao Guo, Ya-yue Gao, Qian-qian Ju, Min Wang, Chun-xia Zhang, Ming Gong, Zhen-ling Li
Summary: In this study, the PV-specific co-expression module "tan" enriched in pro-inflammatory pathways was identified using WGCNA. MAPK14 was identified as the top hub gene in the PV-related PPI network, with significantly higher expression in PV patients confirmed by external datasets. JAK2 homozygous mutation carriers showed higher levels of MAPK14 compared to other mutation types.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Fatemeh Khojasteh-Leylakoohi, Reza Mohit, Nima Khalili-Tanha, Alireza Asadnia, Hamid Naderi, Ghazaleh Pourali, Zahra Yousefli, Ghazaleh Khalili-Tanha, Majid Khazaei, Mina Maftooh, Mohammadreza Nassiri, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Gordon A. Ferns, Soodabeh Shahidsales, Alfred King-yin Lam, Elisa Giovannetti, Elham Nazari, Jyotsna Batra, Amir Avan
Summary: This study utilized bioinformatics and machine learning methods to identify and validate differentially expressed genes and microRNAs associated with pancreatic ductal adenocarcinoma (PDAC). The results demonstrated the prognostic and diagnostic value of these genes and microRNAs in PDAC.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Bin Zhang, Shaowei Dong, Jian Wang, Tuxiong Huang, Pan Zhao, Jing Xu, Dongcheng Liu, Li Fu, Lingwei Wang, Guangsuo Wang, Chang Zou
Summary: By using 3D printed patient derived xenograft models, this study identifies a NOTCH mutation as a predictor of response to EGFR-TKI therapy in LUAD. The NOTCH4(Delta L12_16) mutation increases the occurrence in EGFR-TKI-sensitive patients and sensitizes EGFR-TKI-resistant LUAD cells to the drug. This is mediated by reduced localization of NOTCH4 and down-regulation of HES1 expression. Inhibition of the NOTCH4-HES1 pathway can reverse EGFR-TKI resistance.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Huixuan Yue, Shen Li, Jiaxing Qin, Tingting Gao, Jianjun Lyu, Yu Liu, Xiuwei Wang, Zhen Guan, Zhiqiang Zhu, Bo Niu, Rugang Zhong, Jin Guo, Jianhua Wang
Summary: The study revealed that the Inpp5e gene is closely related to ciliogenesis during embryonic neurodevelopment and its down-regulation under conditions of inositol deficiency may lead to abnormal cilia formation.
FRONTIERS IN NEUROLOGY
(2021)
Article
Oncology
Tianyu Dong, Bo Zhang, Runjiao Zhang, Chang Wang, Xiaopeng Liu, Fei Wang, Nana Hao, Ke Tan, Yan-Zhong Chang
Summary: Hepcidin expression in gliomas is closely related to prognosis and can serve as an independent prognostic factor. Research shows that hepcidin is involved in immune responses and correlates with immune cell infiltration and the efficacy of immunotherapy.
FRONTIERS IN ONCOLOGY
(2022)
Article
Microbiology
V Bay, A. Gillespie, E. Ganda, N. J. Evans, S. D. Carter, L. Lenzi, A. Lucaci, S. Haldenby, M. Barden, B. E. Griffiths, E. Sanchez-Molano, R. Bicalho, G. Banos, A. Darby, G. Oikonomou
Summary: This study investigates the bovine foot skin microbiota and its association with Bovine Digital Dermatitis (BDD) in dairy cows. The results show dysbiosis and differences in taxonomy and functional profiles in the foot skin microbiome of healthy animals that develop BDD lesions. The study also provides evidence of host genetic control of certain members of the foot skin microbiota. Overall, this work contributes to understanding the relationship between the foot skin microbiota and BDD, and provides insights for prevention and selective breeding programs.
Article
Medicine, General & Internal
Camille Cohen, Severine Coulon, Kanit Bhukhai, Antoine Neuraz, Michael Dussiot, Guillemette Fouquet, Marie-Benedicte Le Stang, Martin Flamant, Francois Vrtovsnik, Aurelie Hummel, Bertrand Knebelmann, Laurent Mesnard, Eric Rondeau, Thiago T. Maciel, Fabrizia Favale, Nicole Casadevall, Thao Nguyen-Khoa, Stephane Moutereau, Christophe Legendre, Marc Benhamou, Renato C. Monteiro, Olivier Hermine, Khalil El Karoui, Ivan C. Moura
Summary: The involvement of IgA1 in unexplained polycythemia/erythrocytosis (PE) of IgA nephropathy (IgAN) patients was evaluated in this study. It was found that IgA1 plays a role in regulating erythropoiesis and elevated IgA1 levels increase the sensitivity of erythroid progenitors to Epo.
Article
Cell Biology
Theodora Manolakou, Valeria Kaltezioti, Niki Prakoura, Panagiotis Kavvadas, Simone Reichelt-Wurm, Harikleia Gakiopoulou, Miriam Banas, Bernhard Banas, Maja T. Lindenmeyer, Clemens D. Cohen, Peter Boor, Sonja Djudjaj, Dimitrios T. Boumpas, Christos Chatziantoniou, Aristidis Charonis, Panagiotis K. Politis
Summary: Chronic kidney diseases affect a substantial percentage of the adult population worldwide. Recent advances in genomics have uncovered a previously unanticipated link between the non-coding genome and human kidney diseases. The study found that LINC01187 is strongly down-regulated in human kidney tissues of patients with diabetic nephropathy and rapidly progressive glomerulonephritis, as well as in murine models of kidney diseases. Overexpression of LINC01187 in human kidney cells in vitro inhibits cell death, suggesting a potential protective role against renal diseases.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Immunology
Qiang Ren, Wanhe Luo, Haoming Chi, Lili Zhang, Wei Chen
Summary: This study investigated the inhibitory mechanisms of isookanin on biofilm formation in Staphylococcus epidermidis and found that it could decrease biofilm formation, reduce bacterial numbers, and regulate gene expression. The study also discovered that isookanin in combination with beta-lactam antibiotics had a synergistic effect, reducing antibiotic doses. This research provides guidance for the treatment of antibiotic resistance caused by biofilms.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Neurosciences
William K. Lloyd, Jayne Morriss, Birthe Macdonald, Karin Joanknecht, Julie Nihouarn, Carien M. van Reekum
Summary: The study found that in elderly individuals, a decline in executive function over time is associated with increased activity in the PFC and amygdala when reappraising negative stimuli, rather than with a neural compensation mechanism characterized by increased PFC activation but no differential amygdala activation. Additionally, lower white matter integrity of the uncinate fasciculus was observed in individuals with greater decreases in executive function, highlighting the association between cognitive decline and brain structure and function related to emotion regulation.
Article
Clinical Neurology
Yvan de Feraudy, Rabah Ben Yaou, Karim Wahbi, Caroline Stalens, Amalia Stantzou, Vincent Laugel, Isabelle Desguerre, Laurent Servais, France Leturcq, Helge Amthor
Summary: This study found that very low residual dystrophin protein quantity may lead to a shift in disease phenotype from DMD to BMD. Patients with dystrophin quantities <5% exhibited milder phenotypes for most clinical outcomes, including age at loss of ambulation.
ANNALS OF NEUROLOGY
(2021)
Article
Multidisciplinary Sciences
Rui Xue Zhang, Ying Wen, Da Dong Guo, Fu Ru Xu, Gui Min Wang, Xing Rong Wang, Yong Wei Shi, Jie Ding, Qian Jiang, Wen Jun Jiang, Jost B. Jonas, Hong Sheng Bi
Summary: Mutations in the FBN2 gene are linked to genetic macular degenerative disorders, and the expression of FBN2 protein is reduced in patients with these disorders. This study investigated the efficacy and molecular mechanism of intravitreally applied fibrin-2 recombinant protein in mice with FBN2-deficient retinopathy.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Astros Th Skuladottir, Gyda Bjornsdottir, Egil Ferkingstad, Gudmundur Einarsson, Lilja Stefansdottir, Muhammad Sulaman Nawaz, Asmundur Oddsson, Thorunn A. Olafsdottir, Saedis Saevarsdottir, G. Bragi Walters, Sigurdur H. Magnusson, Anna Bjornsdottir, Olafur A. Sveinsson, Arnor Vikingsson, Thomas Folkmann Hansen, Rikke Louise Jacobsen, Christian Erikstrup, Michael Schwinn, Soren Brunak, Karina Banasik, Sisse Rye Ostrowski, Anders Troelsen, Cecilie Henkel, Ole Birger Pedersen, Ingileif Jonsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Thorgeir E. Thorgeirsson, Hreinn Stefansson, Kari Stefansson
Summary: The underlying genetics of carpal tunnel syndrome is still not well understood. Through a GWAS meta-analysis, the authors identified variants at 50 loci associated with the syndrome, with connections to the extracellular matrix. Functional analyses revealed the involvement of multiple genes in the risk of carpal tunnel syndrome, highlighting the role of the extracellular matrix in its pathogenesis.
NATURE COMMUNICATIONS
(2022)
Article
Plant Sciences
Valerio Di Vittori, Elena Bitocchi, Monica Rodriguez, Saleh Alseekh, Elisa Bellucci, Laura Nanni, Tania Gioia, Stefania Marzario, Giuseppina Logozzo, Marzia Rossato, Concetta De Quattro, Maria L. Murgia, Juan Jose Ferreira, Ana Campa, Chunming Xu, Fabio Fiorani, Arun Sampathkumar, Anja Froehlich, Giovanna Attene, Massimo Delledonne, Bjoern Usadel, Alisdair R. Fernie, Domenico Rau, Roberto Papa
Summary: Through gene expression and histological analysis of dehiscent and indehiscent pods, a potential candidate gene controlling pod indehiscence was identified. Pod shattering is associated with the lack of a functional abscission layer in the ventral sheath, and key anatomical modifications related to pod shattering occur early in pod development. Loss of pod shattering in legumes is proposed to result from histological convergent evolution and selection at orthologous loci.
JOURNAL OF EXPERIMENTAL BOTANY
(2021)
Article
Respiratory System
Michael Emmet O'Brien, Richard H. Zou, Nathan Hyre, Joseph K. Leader, Carl R. Fuhrman, Frank C. Sciurba, Mehdi Nouraie, Jessica Bon
Summary: PMA, quantifiable by CT, is strongly associated with DXA measures and serves as a useful clinical surrogate for assessing skeletal muscle loss in smokers. Decreased PMA is correlated with emphysema progression, but not with lung function decline.
Article
Immunology
Richard J. Wang, Mehdi Nouraie, Ken M. Kunisaki, Laurence Huang, Phyllis C. Tien, Kathryn Anastos, Neha Bhandari, Surya P. Bhatt, Hector Bolivar, Sushma K. Cribbs, Robert Foronjy, Stephen J. Gange, Deepa Lazarous, Alison Morris, M. Bradley Drummond
Summary: This study investigated the association between HIV infection and differences in lung function in women. The results showed that HIV infection was associated with impaired respiratory gas exchange in women, and among women with HIV, lower nadir CD4+ cell counts and hepatitis C infection were associated with decreased respiratory gas exchange.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Respiratory System
Yandong Lai, Xiuying Li, Tiao Li, Xiaoyun Li, Toru Nyunoya, Kong Chen, Georgios Kitsios, Mehdi Nouraie, Yingze Zhang, Bryan J. McVerry, Janet S. Lee, Rama K. Mallmapalli, Chunbin Zou
Summary: This study found that PRMT4 is elevated in septic patients and experimental sepsis. Enhanced PRMT4 plays a key role in lymphocyte apoptosis, while it has no effect on monocytes. Inhibition of PRMT4 can attenuate lymphocyte death.
Article
Hematology
Vida Zhang, Supak Jenkitkasemwong, Qingli Liu, Tomas Ganz, Elizabeta Nemeth, Mitchell D. Knutson, Airie Kim
Summary: ZIP8 is a transmembrane protein that imports divalent metal ions and is highly expressed in the lung. It can transport iron and is inducible by inflammatory stimuli. This study found that ZIP8 plays a role in systemic iron homeostasis and transports iron from the airway into lung tissue, but it does not modulate the severity of inflammatory lung injury or the host defense against a common bacterial cause of pneumonia.
Review
Medicine, Research & Experimental
Tomas Ganz, Elizabeta Nemeth, Stefano Rivella, Paul Goldberg, Andrew R. Dibble, Michael L. McCaleb, Shuling Guo, Brett P. Monia, Terrance D. Barrett
Summary: TMPRSS6 is a serine protease that is highly expressed in the liver. Mutations in TMPRSS6 were found to be the cause of iron-refractory iron deficiency anemia (IRIDA) in humans and mice. TMPRSS6 negatively regulates the expression of hepcidin, a systemic iron-regulatory hormone. Understanding the biology and mechanism of action of TMPRSS6 has led to the development of new therapeutic approaches for erythropoiesis and iron homeostasis-related diseases.
ADVANCES IN THERAPY
(2023)
Article
Biochemical Research Methods
Xionghao Lin, Asrar Ahmad, Andrey I. Ivanov, Jyothirmai Simhadri, Songping Wang, Namita Kumari, Tatiana Ammosova, Sergei Nekhai
Summary: The HIV-1 transcription inhibitor 1E7-03 reprogrammed the PPAR alpha/RXR alpha and TGF-6 pathways, leading to the inhibition of HIV-1 transcription. The reduced phosphorylation of nucleophosmin and transforming growth factor-beta 2 played important roles in this process. Additionally, phosphorylation of NPM1 was identified as a crucial mechanism for HIV-1 transcription.
MOLECULAR & CELLULAR PROTEOMICS
(2023)
Article
Hematology
Jihyun Song, Krishna M. Sundar, Monika Horvathova, Radhika Gangaraju, Karel Indrak, Robert D. Christensen, Samuel Genzor, Carsten Lundby, Vladimir Divoky, Tomas Ganz, Josef T. Prchal
Summary: Obstructive sleep apnea (OSA) does not cause significant increase in red cell mass due to neocytolysis and inflammation-mediated suppression of erythropoiesis. Accelerated erythropoiesis in OSA patients is offset by the lysis of newly generated erythrocytes upon return to normoxia, resulting in a normal blood hemoglobin concentration.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Angelo D'Alessandro, S. Mehdi Nouraie, Yingze Zhang, Francesca Cendali, Fabia Gamboni, Julie A. Reisz, Xu Zhang, Kyle W. Bartsch, Matthew D. Galbraith, Victor R. Gordeuk, Mark T. Gladwin
Summary: This study evaluates the red blood cell metabolism of 587 sickle cell disease patients and finds significant metabolic alterations in RBC acylcarnitines, pyruvate, sphingosine 1-phosphate, creatinine, kynurenine, and urate in Hb SS genotype compared to AA and SC RBCs. Surprisingly, the metabolism of SC RBCs is dramatically different from SS RBCs, with all glycolytic intermediates significantly elevated. These findings provide insights into the metabolic signatures and potential underlying mechanisms in sickle cell disease.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Cell Biology
Corbin R. Azucenas, T. Alex Ruwe, John P. Bonamer, Bo Qiao, Tomas Ganz, Mika Jormakka, Elizabeta Nemeth, Bryan Mackenzie
Summary: Fpn is a protein expressed in the plasma membrane of macrophages, enterocytes, and hepatocytes, which mediates the transfer of cellular iron into the blood plasma. Research has shown that human Fpn does not transport manganese, but mouse Fpn may be involved in manganese metabolism. Comparative analysis of mouse and human Fpn revealed that they share identical properties in terms of substrate profile, calcium dependence, optimal pH, and hepcidin sensitivity.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Letter
Critical Care Medicine
Franziska J. Rosser, Yueh-Ying Han, Erick Forno, Theresa W. Guilbert, Leonard B. Bacharier, Wanda Phipatanakul, Gillian C. Goobie, S. Mehdi Nouraie, Mary Martinez, Juan C. Celedon
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Respiratory System
Eleanor Valenzi, Harinath Bahudhanapati, Jiangning Tan, Tracy Tabib, Daniel I. Sullivan, Mehdi Nouraie, John Sembrat, Li Fan, Kong Chen, Silvia Liu, Mauricio Rojas, Audrey Lafargue, Dean W. Felsher, Phuoc T. Tran, Daniel J. Kass, Robert Lafyatis
Summary: The study finds that TWIST1 and other E-box transcription factor motifs play a critical role in the activity of IPF myofibroblasts, and understanding their regulation may lead to new therapeutic interventions for fibrotic pulmonary diseases.
EUROPEAN RESPIRATORY JOURNAL
(2023)
Letter
Respiratory System
Georgios D. Kitsios, Seyed Mehdi Nouraie, Shulin Qin, Yingze Zhang, Prabir Ray, Anuradha Ray, Janet S. Lee, Alison Morris, Bryan J. McVerry, William Bain
Article
Hematology
Binal N. Shah, Xu Zhang, Adelina I. Sergueeva, Galina Y. Miasnikova, Tomas Ganz, Josef T. Prchal, Victor R. Gordeuk
Summary: Von Hippel-Lindau protein (VHL) is crucial for regulating cellular processes under hypoxic conditions. Mutations in VHLR200W lead to Chuvash erythrocytosis, a congenital disorder characterized by heightened hypoxia sensing. Increased levels of HIFs, which are regulated by VHL, result in elevated erythropoietin gene transcription and hematocrit levels.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Toxicology
Jason J. J. Rose, Michael S. S. Zhang, Jerry Pan, Marc C. C. Gauthier, Anthony F. F. Pizon, Melissa I. I. Saul, Seyed M. M. Nouraie
Summary: A clinical risk score was developed to identify carbon monoxide-poisoned patients at risk for acute and long-term mortality. This score takes into account age, altered mental status, and cardiac complications. It has shown good predictive ability in both derivation and validation cohorts.
CLINICAL TOXICOLOGY
(2023)
Meeting Abstract
Critical Care Medicine
S. R. Patel, J. P. Bakker, C. J. Stitt, M. S. Aloia, S. Nouraie
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2022)