Article
Multidisciplinary Sciences
Sebastien Bastide, Elad Chomsky, Baptiste Saudemont, Yann Loe-Mie, Sandrine Schmutz, Sophie Novault, Heather Marlow, Amos Tanay, Francois Spitz
Summary: We developed a spatially resolved single-cell transcriptomics method to explore the genetic programs underlying the emergence of specialized cell types during mouse limb development. Our study revealed two parallel regulatory systems and demonstrated the complex multiscale reorganization of the embryonic limb upon perturbation of its spatial organizing centers.
Article
Oncology
Ying Zhong, Fangyuan Li, Sumei Zhang, Zhenli Yang, Xinyu Ren, Xi Cao, Yali Xu, Dan Guo, Yidong Zhou, Feng Mao, Songjie Shen, Qiang Sun
Summary: This study revealed that SDC1 is a key immune-related gene that is highly expressed in triple-negative breast cancer patients. Patients with high SDC1 expression in tumor cells and low expression in cancer associated fibroblasts (CAFs) had worse prognosis and lower tumor-infiltrating lymphocytes (TILs). Additionally, SDC1 was found to regulate the migration of MDA-MB-231 breast cancer cells through a TGFb1-Smad and E-cadherin-dependent mechanism.
CANCER CELL INTERNATIONAL
(2023)
Article
Developmental Biology
Hyung Chul Lee, Cato Hastings, Nidia M. M. Oliveira, Ruben Perez-Carrasco, Karen M. Page, Lewis Wolpert, Claudio D. Stern
Summary: By manipulating early chick embryos, researchers found that cells in the developing system interpret morphogen status relative to their neighborhood, rather than reading morphogen concentrations autonomously. This finding has important implications for understanding tissue pattern formation and how cells interpret positional information.
Article
Cell Biology
Fong Kuan Wong, Martijn Selten, Claudia Roses-Novella, Varun Sreenivasan, Noemi Pallas-Bazarra, Eleni Serafeimidou-Pouliou, Alicia Hanusz-Godoy, Fazal Oozeer, Robert Edwards, Oscar Marin
Summary: This study investigates the mechanisms underlying developmental cell death in different populations of interneurons. The results show that neurogliaform cells and basket cells require glutamatergic transmission for survival, while the number of bipolar cells is regulated by serotonin signaling.
Article
Developmental Biology
Mary Taglienti, Daniel Graf, Valerie Schumacher, Jordan A. Kreidberg
Summary: The mammalian kidney is composed of nephrons, which are formed through mesenchymal-to-epithelial transformation by nephron progenitor cells. Bmp7 plays a major role in determining nephron number and driving their proliferation, ultimately contributing to the development of a mature kidney.
Article
Cardiac & Cardiovascular Systems
Bijun Chen, Ruoshui Li, Silvia C. Hernandez, Anis Hanna, Kai Su, Arti V. Shinde, Nikolaos G. Frangogiannis
Summary: TGF-beta signaling through Smad2/3 regulates macrophage responses in myocardial infarction. Smad3 plays a crucial role in mediating the anti-inflammatory and phagocytic effects of TGF-beta, while the activation of Smad2 does not affect these processes. Smad3, but not Smad2, is the main mediator of transcriptional effects of TGF-beta on macrophages.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2022)
Article
Anatomy & Morphology
Afshan Sohail, Andrew J. Bendall
Summary: This study describes and compares the expression of all six DLX genes in the chick pharyngeal arches, specifically focusing on the period of active patterning in the first arch. Disrupting endothelin signaling leads to the down-regulation of ventral-specific DLX genes, confirming their functional role in avian jaw patterning. This research is important for comparative embryology and identifying synexpression groups of DLX-regulated genes in the chick.
DEVELOPMENTAL DYNAMICS
(2023)
Article
Genetics & Heredity
Chenxing Liu, Myoung Keun Lee, Sahin Naqvi, Hanne Hoskens, Dongjing Liu, Julie D. White, Karlijne Indencleef, Harold Matthews, Ryan J. Eller, Jiarui Li, Jaaved Mohammed, Tomek Swigut, Stephen Richmond, Mange Manyama, Benedikt Hallgrimsson, Richard A. Spritz, Eleanor Feingold, Mary L. Marazita, Joanna Wysocka, Susan Walsh, Mark D. Shriver, Peter Claes, Seth M. Weinberg, John R. Shaffer
Summary: Genetic factors play a crucial role in shaping human facial features, with shared and population-specific genetic contributions to normal-range facial variation observed in Tanzanian children compared to Europeans. 20 genomic regions associated with facial shape were identified in Tanzanian children, 10 of which overlapped with Europeans, indicating some shared genetic basis for human facial shape across populations. Additionally, unique genetic associations and differing shared signals were found, suggesting both common and distinct genetic architecture of facial variation among populations.
Article
Cell Biology
Xiaoqiu Shu, Chen Wei, Wen-Yo Tu, Keke Zhong, Shuyuan Qi, Ailian Wang, Lei Bai, Shan-Xin Zhang, Benyan Luo, Zhen-Zhong Xu, Kejing Zhang, Chengyong Shen
Summary: Expansion of the GGGGCC repeat in the C9orf72 gene is the most common genetic factor in ALS and FTD. The produced poly-GA proteins tend to form neurotoxic aggregates. The relationship between C9orf72 and TREM2 in ALS/FTD is still unclear.
Article
Dermatology
Marie-Alice Durand, Alice Mouchard, Laurine Durand, Clara Esnault, Patricia Berthon, Anne Tallet, Yannick Le Corre, Ewa Hainaut-Wierzbicka, Astrid Blom, Philippe Saiag, Nathalie Beneton, Guido Bens, Charlee Nardin, Francois Aubin, Monica Dinulescu, Christine Collin, Gaelle Fromont-Hankard, Bernard Cribier, Sara Laurent-Roussel, Kristof Cokelaere, Roland Houben, David Schrama, Paul Peixoto, Eric Hervouet, Kamel Bachiri, Diala Kantar, Etienne Coyaud, Serge Guyetant, Mahtab Samimi, Antoine Touze, Thibault Kervarrec
Summary: This study examines the expression and function of EZH2 in MCC, and identifies the distinct mechanisms of EZH2 induction between virus-positive and virus-negative MCC.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Engineering, Biomedical
Chakram S. Deepak, Abhijith Krishnan, K. S. Narayan
Summary: Interfacing optoelectronic semiconducting polymer material with a blind-developing chick retina allows for a response similar to natural photoreceptors. By recording evoked action potentials, the changing characteristics of the signal during different stages of retina development can be observed, highlighting the emerging network pathways in the vision process of the artificial photoreceptor interfaced retina.
JOURNAL OF NEURAL ENGINEERING
(2022)
Article
Cell Biology
Victoria Gudino, Patrizia Cammareri, Caroline Billard, Kevin B. Myant
Summary: RAC1B, overexpressed in tumors, may not necessarily drive tumor invasion but accelerate tumor initiation with reduced apoptosis. It functions by attenuating TGF beta signaling and conferring resistance to TGF beta-driven cell death in early-stage adenoma cells. This study reveals a novel oncogenic function of RAC1B in vivo.
CELL DEATH & DISEASE
(2021)
Article
Biochemical Research Methods
Kaitlyn E. Stepler, Seth C. Hannah, Lisa A. Taneyhill, Peter Nemes
Summary: In this study, mass spectrometry-based proteomics was used to investigate the protein profile of the chick midbrain region during early embryonic development. Over 5900 proteins and 450 phosphoproteins were identified, providing valuable insight into the important developmental processes occurring in this region, particularly relating to neural crest cell EMT and migration.
JOURNAL OF PROTEOME RESEARCH
(2023)
Article
Cell Biology
Rasool Saghaleyni, Magdalena Malm, Noah Moruzzi, Jan Zrimec, Ronia Razavi, Num Wistbacka, Hannes Thorell, Anton Pintar, Andreas Hober, Fredrik Edfors, Veronique Chotteau, Per-Olof Berggren, Luigi Grassi, Aleksej Zelezniak, Thomas Svensson, Diane Hatton, Jens Nielsen, Jonathan L. Robinson, Johan Rockberg
Summary: Recombinant protein production causes stress on cellular metabolism, limiting both yield and quality. Our study shows that EPO-producing cells have higher metabolism and oxidative phosphorylation compared to non-secreting cells. The expression pattern of ribosomal genes also depends on the recombinant protein and production rate. Manipulating genes related to negative regulation of ER stress can enhance EPO production.
Article
Agriculture, Dairy & Animal Science
Yoshimitsu Ouchi, Yoshinori Komaki, Kensuke Shimizu, Natsuki Fukano, Toshihisa Sugino, Jun-Ichi Shiraishi, Vishwajit S. Chowdhury, Takashi Bungo
Summary: Fructose and glucose have different effects on food intake and metabolism in the body. Fructose administration does not suppress feeding behavior and does not increase blood glucose and insulin levels as glucose administration does. The expression of genes related to energy regulation in the hypothalamus is affected by glucose treatment in fasted chicks.
Review
Orthopedics
Konrad Mende, Neil Vargesson, Branavan Sivakumar
JOURNAL OF HAND SURGERY-EUROPEAN VOLUME
(2019)
Review
Anatomy & Morphology
Neil Vargesson
DEVELOPMENTAL DYNAMICS
(2020)
Article
Medicine, Research & Experimental
Matthew J. Taylor, Matthew R. Ullenbruch, Emily C. Frucci, Juilee Rege, Mark S. Ansorge, Celso E. Gomez-Sanchez, Salma Begum, Edward Laufer, David T. Breault, William E. Rainey
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Biochemistry & Molecular Biology
Shaunna L. Beedie, Phoebe A. Huang, Emily M. Harris, Jonathan D. Strope, Christopher Mahony, Cindy H. Chau, Neil Vargesson, William D. Figg
Article
Neurosciences
Victor Luria, Ed Laufer
Article
Anatomy & Morphology
Alexandra Rafipay, Xin-Peng Dun, David B. Parkinson, Lynda Erskine, Neil Vargesson
Summary: The study found that Slit/Robo signaling plays an essential role in regulating bone length during chicken limb development.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Biochemistry & Molecular Biology
Megan L. Peach, Shaunna L. Beedie, Cindy H. Chau, Matthew K. Collins, Suzana Markolovic, Weiming Luo, David Tweedie, Christian Steinebach, Nigel H. Greig, Michael Guotschow, Neil Vargesson, Marc C. Nicklaus, William D. Figg
Review
Genetics & Heredity
Gabriela Elis Wachholz, Bruna Duarte Rengel, Neil Vargesson, Lucas Rosa Fraga
Summary: Teratology focuses on congenital anomalies and their causes, particularly external factors known as teratogens, which include various factors such as chemicals, medications, and environmental pollutants. Experimental animal models like the chicken embryo are used to study the mechanisms of teratogenicity of these factors and for drug screening studies.
FRONTIERS IN GENETICS
(2021)
Review
Orthopedics
Neil Vargesson, Geoffrey Hooper, Grey Giddins, Alastair Hunter, Paul Stirling, Wee Lam
Summary: This review article provides a comprehensive overview of thalidomide upper limb embryopathy, including its pathogenesis, historical management of pediatric patients, experience with adult patient management, and early onset age-related changes associated with limb differences. Thalidomide, despite its withdrawal from the market, is still used to treat various conditions, but can cause embryo damage if not used safely. Recent research on thalidomide analogues shows promise in retaining clinical benefits without harmful effects. Understanding the challenges faced by thalidomide survivors as they age can improve healthcare for them and other individuals with congenital limb differences.
JOURNAL OF HAND SURGERY-EUROPEAN VOLUME
(2023)
Review
Biochemistry & Molecular Biology
Katherine O. Kopp, Margaret E. Greer, Elliot J. Glotfelty, Shih-Chang Hsueh, David Tweedie, Dong Seok Kim, Marcella Reale, Neil Vargesson, Nigel H. Greig
Summary: The immunomodulatory imide drug (IMiD) class, consisting of thalidomide and its derivatives lenalidomide and pomalidomide, has greatly improved the treatment of specific cancers and possesses potent anticancer and anti-inflammatory actions. These actions are mainly mediated by the binding of IMiDs to the human protein cereblon, resulting in the modification of protein degradation and the emergence of new substrate proteins. However, this binding also leads to adverse effects, including teratogenicity.
Article
Genetics & Heredity
Sihao Xiao, Zhentian Kai, Daniel Murphy, Dongyang Li, Dilip Patel, Adrianna M. Bielowka, Maria E. Bernabeu-Herrero, Awatif Abdulmogith, Andrew D. Mumford, Sarah K. Westbury, Micheala A. Aldred, Neil Vargesson, Mark J. Caulfield, Claire L. Shovlin
Summary: Despite whole-genome sequencing (WGS), many single-gene disorders remain unsolved. To address this issue, researchers have developed an analytic tool called GROFFFY, which integrates coordinates for regions with experimental evidence of functionality and can prioritize variants in non-coding regions. Applied to WGS data, GROFFFY reduced the number of variants without deleting disease-causal variants. It successfully identified rare deletions in the 3' untranslated region of the tumor suppressor gene SMAD4, shedding light on the impact of these variants on regulatory systems based on RNA polyadenylation.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Pharmacology & Pharmacy
Rebecca von Hellfeld, Christoph Gade, Neil Vargesson, Astley Hastings
Summary: With the increasing annual chemical development and production, there is a growing demand for safety testing. QSAR modeling can predict the biological effect of a chemical structure, but there is insufficient toxicity data for different mercury species.
Article
Cell Biology
Daniela Lecca, Shih-Chang Hsueh, Weiming Luo, David Tweedie, Dong Seok Kim, Abdul Mannan Baig, Neil Vargesson, Yu Kyung Kim, Inho Hwang, Sun Kim, Barry J. Hoffer, Yung-Hsiao Chiang, Nigel H. Greig
Summary: TFBP and TFNBP are a new class of thalidomide-like drugs that have anti-inflammatory effects without binding to cereblon, making them potentially safer for clinical use than traditional similar drugs. TFBP can alleviate neuroinflammation caused by moderate traumatic brain injury, improving behavioral outcomes.
JOURNAL OF BIOMEDICAL SCIENCE
(2023)
Article
Reproductive Biology
Bengt Danielsson, Neil Vargesson, Christian Danielsson
Summary: Hypoxia in embryos can lead to adverse effects on embryonic tissues, particularly in the vascular endothelium and heart development. The teratogenicity associated with transient embryonic hypoxia is similar to that observed in cases of failed abortion in humans, possibly due to uterine contractions and compression of uterine-placental/embryonic blood vessels.
REPRODUCTIVE TOXICOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Anas M. Khanshour, Yared H. Kidane, Julia Kozlitina, Reuel Cornelia, Alexandra Rafipay, Vanessa De Mello, Mitchell Weston, Nandina Paria, Aysha Khalid, Jacqueline T. Hecht, Matthew B. Dobbs, B. Stephens Richards, Neil Vargesson, F. Kent Hamra, Megan Wilson, Carol Wise, Christina A. Gurnett, Jonathan J. Rios
HUMAN MOLECULAR GENETICS
(2020)
