Lactate accumulation promotes immunosuppression and fibrotic transformation of bone marrow microenvironment in myelofibrosis by Mariarita Spampinato, Cesarina Giallongo, Sebastiano Giallongo, Enrico La Spina, Andrea Duminuco, Lucia Longhitano, Rosario Caltabiano, Lucia Salvatorelli, Giuseppe Broggi, Elisabetta P. Pricoco, Vittorio Del Fabro, Ilaria Dulcamare, Antonio Massimo DI Mauro, Alessandra Romano, Francesco Di Raimondo, Giovanni Li Volti, Giuseppe A. Palumbo, Daniele Tibullo

“…Results Our results show an activation of a cancer-associated phenotype (CAF) related to mineralized matrix formation and early fibrosis development. …”
Get full text

NEAT1 regulates BMSCs aging through disruption of FGF2 nuclear transport by Zifei Wang, Wenyu Zhen, Qing Wang, Yuqiang Sun, Siyu Jin, Sensen Yu, Xing Wu, Wenhao Zhang, Yulong Zhang, Fei Xu, Rui Wang, Yuxuan Xie, Wansu Sun, Jianguang Xu, Hengguo Zhang

“…Within NEAT1 knockdown, hallmarks of cellular aging, including senescence-associated secretory phenotype (SASP), p16, and p21, were significantly downregulated. …”
Get full text

Implementation of a genotyped African population cohort, with virtual follow-up: A feasibility study in the Western Cape Province, South Africa [version 2; peer review: 2 approved,... by Robert J Wilkinson, Francisco Lakay, Nicki Tiffin, Joel A Dave, Catherine Riou, Peter Raubenheimer, Anna K Coussens, Tsaone Tamuhla, Melissa J Blumenthal, Maleeka Abrahams

“…Genotype data was generated using the H3Africa Illumina micro-array, and phenotype data was derived from routine health data of participants. …”
Get full text

Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis by Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz

“…Abstract Aims Long‐term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. …”
Get full text

LRP1 involvement in FHIT-regulated HER2 signaling in non-small cell lung cancer by Théophile Ponchel, Emma Loeffler, Julien Ancel, Audrey Brisebarre, Nathalie Lalun, Véronique Dalstein, Anne Durlach, Gaëtan Deslée, Stéphane Dedieu, Myriam Polette, Béatrice Nawrocki-Raby

“…We previously showed that a down-regulation of FHIT causes an up-regulation of the activity of HER2 associated to an epithelial-mesenchymal transition (EMT) and that lung tumor cells harboring a FHITlow/pHER2high phenotype are sensitive to anti-HER2 drugs. Here, we sought to decipher the FHIT-regulated HER2 signaling pathway in NSCLC. …”
Get full text

A dynamic peripheral immune landscape during human pregnancy by Xiuxing Liu, Lei Zhu, Zhaohao Huang, Zhaohuai Li, Runping Duan, He Li, Lihui Xie, Xiaozhen Chen, Wen Ding, Binyao Chen, Yuehan Gao, Juan Su, Xianggui Wang, Wenru Su

“…Gradual reduced cytotoxicity phenotype in highly variable cytotoxic T and natural killer cell types were observed during pregnancy. …”
Get full text

Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder by Inna Shomer, Nofar Mor, Shaul Raviv, Noga Budick-Harmelin, Tanya Matchevich, Sharon Avkin-Nachum, Yoach Rais, Rebecca Haffner-Krausz, Ariela Haimovich, Aviv Ziv, Reut Fluss, Bruria Ben-Ze’ev, Gali Heimer, Denis N. Silachev, Vladimir L. Katanaev, Dan Dominissini

“…We established a Gnao1-E246K mouse model that shows a neurological phenotype, which partially recapitulates the human condition. …”
Get full text

Genome-wide identification of novel flagellar motility genes in Pseudomonas syringae pv. tomato DC3000 by Zichu Yang, Tyler Helmann, Maël Baudin, Maël Baudin, Maël Baudin, Karl J. Schreiber, Karl J. Schreiber, Zhongmeng Bao, Paul Stodghill, Paul Stodghill, Adam Deutschbauer, Adam Deutschbauer, Jennifer D. Lewis, Jennifer D. Lewis, Bryan Swingle, Bryan Swingle

“…We used the overexpression phenotype to screen for nonsense and missense mutants of PSPTO_4229 that no longer reduce swimming motility and found a pair of conserved arginine residues that are necessary for motility suppression. …”
Get full text

Characteristics and multi-omics analysis of spontaneous spondyloarthritis in non-human primates: Case report by Lei Cai, Qing Lv, Ronghua Ma, Wei Liu, Yalun Guan, Zhongqiang Huang, Qingyu Liu, Yunfeng Li, Shuhua Liu, Ge Li, Yu Zhang

“…Further analysis using clinical data in conjunction with proteome data through Weighted Gene Co-expression Network Analysis (WGCNA) demonstrated a significant positive correlation between the high expression of S100A8 and S100A9 and the clinical phenotypes of spinal abnormalities, thereby corroborating the close association of S100A8 and S100A9 with the phenotype of spondyloarthritis. …”
Get full text

Idiopathic multicentric Castleman disease in children: a single-center retrospective analysis by Junye Du, Jiafeng Yao, Honghao Ma, Li Li, Ang Wei, Liping Zhang, Dong Wang, Zhigang Li, Rui Zhang, Tianyou Wang

“…Abstract Objective To investigate the clinical features, pathological phenotype, treatment and prognosis of idiopathic multicenter Castleman disease (iMCD)in children. …”
Get full text

Single-cell atlas reveals multi-faced responses of losartan on tubular mitochondria in diabetic kidney disease by Zhen Zhu, Guangxin Luan, Song Wu, Yiyi Song, Shuang Shen, Kaiyue Wu, Shengnan Qian, Weiping Jia, Jun Yin, Tao Ren, Jianping Ye, Li Wei

“…In addition, we highlighted a specific renal tubular subpopulation with mitophagy phenotype found in single-cell data, and preliminarily validated it with co-localization and increased expression of Pink1 and Gclc in kidney specimens of DKD patients treated with losartan. …”
Get full text

Targeting lipid metabolism of macrophages: A new strategy for tumor therapy by Nan Shao, Hui Qiu, Jing Liu, Daimin Xiao, Juanjuan Zhao, Chao Chen, Jiajia Wan, Mengmeng Guo, Guiyou Liang, Xu Zhao, Lin Xu

“…In particular, we emphasize that there is complex lipid metabolism connections between TAMs and distinct tumors, which influences TAM to bias from M1 to M2 phenotype in tumor progression, and ultimately promotes tumor occurrence and development. …”
Get full text

APOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology by Kristine M. Tran, Nellie E. Kwang, Claire A. Butler, Angela Gomez-Arboledas, Shimako Kawauchi, Cassandra Mar, Donna Chao, Rocio A. Barahona, Celia Da Cunha, Kate I. Tsourmas, Zechuan Shi, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Joshua A. Alcantara, Jonathan Neumann, Duc M. Duong, Nicholas T. Seyfried, Andrea J. Tenner, Frank M. LaFerla, Lindsay A. Hohsfield, Vivek Swarup, Grant R. MacGregor, Kim N. Green

“…Results In 5xFAD mice, ApoeCh enhances a Disease-Associated Microglia (DAM) phenotype in microglia surrounding plaques, and reduces plaque load, dystrophic neurites, and plasma neurofilament light chain. …”
Get full text

Flowering Characteristics and Expression Patterns of Key Genes in Response to Photoperiod in Different <i>Chrysanthemum</i> Varieties by Qiuling Zhang, Xueru Li, Shuyu Cai, Junzhuo Li, Jiaying Wang, Yanfei Li, Silan Dai

“…In addition, SD induction under different photoperiodic conditions and growth states resulted in differences in the phenotype of flowering. This result provides guidance for the artificial regulation of <i>chrysanthemum</i> flowering and improvement of ornamental quality, as well as clues for analyzing the flowering mechanism of <i>chrysanthemums</i> under different photoperiod conditions.…”
Get full text

Identification of positive selection signatures associated with milk and composition traits in Murciano-Granadina and Barki by Hossein Mohammadi, amir hossien khaltabadi farahani, Mohammad Hossein Moradi

“…Domestication and selection have significantly changed the behavioral and phenotypic traits in modern domestic animals. The selection of animals by humans left detectable signatures on the genome of modern goat. …”
Get full text

Sex-specific associations between body composition and depression among U.S. adults: a cross-sectional study by Yijing Li, Juan Li, Tianning Sun, Zhigang He, Cheng Liu, Zhixiao Li, Yanqiong Wu, Hongbing Xiang

“…Additionally, compared to females with a low-fat high-muscle phenotype, those with LA-LM (OR = 3.97, 95%CI:2.16–7.30), HA-LM (OR = 5.40, 95%CI:2.34–12.46), and HA-HM (OR = 6.36, 95%CI:3.26–12.37) phenotypes were more likely to develop depression. …”
Get full text

Patient-derived follicular lymphoma spheroids recapitulate lymph node signaling and immune profile uncovering galectin-9 as a novel immunotherapeutic target by Cèlia Dobaño-López, Juan García Valero, Ferran Araujo-Ayala, Ferran Nadeu, Fabien Gava, Carla Faria, Marine Norlund, Renaud Morin, Pascale Bernes-Lasserre, Fabian Arenas, Marta Grau, Cristina López, Irene López-Oreja, Neus Serrat, Ares Martínez-Farran, Lluís Hernández, Heribert Playa-Albinyana, Rubén Giménez, Silvia Beà, Elías Campo, Jean-Michel Lagarde, Armando López-Guillermo, Laura Magnano, Dolors Colomer, Christine Bezombes, Patricia Pérez-Galán

“…FL-PDLS is organized in disc-shaped 3D structures composed of proliferating B and T cells, together with macrophages with an intermediate M1/M2 phenotype. FL-PDLS recapitulates the most relevant B-cell transcriptional pathways present in FL-LN (proliferation, epigenetic regulation, mTOR, adaptive immune system, among others). …”
Get full text

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

“…Autism, epilepsy, movement disorders, sleep disturbances, and various psychiatric behaviors constituted the core of the disorder’s clinical phenotype. Lower clinical severity scores, indicating worst severity, coincided with older age (R= -0.302, p = 0.03), as well as age-adjusted lower values of plasma γ-aminobutyrate (GABA) (R = 0.337, p = 0.02) and γ-hydroxybutyrate (GHB) (R = 0.360, p = 0.05). …”
Get full text

Impact of Ketogenic and Mediterranean Diets on Gut Microbiota Profile and Clinical Outcomes in Drug-Naïve Patients with Diabesity: A 12-Month Pilot Study by Vanessa Palmas, Andrea Deledda, Vitor Heidrich, Giuseppina Sanna, Giulia Cambarau, Michele Fosci, Lorenzo Puglia, Enrico Antonio Cappai, Alessio Lai, Andrea Loviselli, Aldo Manzin, Fernanda Velluzzi

“…The VLCKD-MD had a more beneficial impact than the MD on the GM phenotype. A substantial positive modulatory effect was observed especially up to the sixth month of the NI in KETO due to the progressive increase in bacterial markers of human health. …”
Get full text

RECQL4 affects MHC class II‐mediated signalling and favours an immune‐evasive signature that limits response to immune checkpoint inhibitor therapy in patients with malignant melan... by Sara Egea‐Rodriguez, Renáta Váraljai, Thierry M. Nordmann, Restuan Lubis, Manuel Philip, Florian Rambow, Alexander Roesch, Michael Flaig, Susanne Horn, Raphael Stoll, Fang Zhao, Annette Paschen, Bert Klebl, Ian D. Hickson, Dirk Schadendorf, Matthias Mann, Iris Helfrich

“…RECQL4 favours an immune‐evasive phenotype by downregulating major histocompatibility complex class II molecules.…”
Get full text