Article
Developmental Biology
Eva Janeckova, Jifan Feng, Tingwei Guo, Xia Han, Aileen Ghobadi, Angelita Araujo-Villalba, Md Shaifur Rahman, Heliya Ziaei, Thach-Vu Ho, Siddhika Pareek, Jasmine Alvarez, Yang Chai
Summary: This study reveals the crucial role of Wnt signaling in soft palate development and muscle differentiation through the regulation of ciliary homeostasis. Wnt signaling activates ciliary gene Ttll3 expression, which is necessary for mesenchymal cell proliferation and subsequent myogenesis.
Article
Cell Biology
Pablo Astudillo
Summary: This study analyzed the role of the Wnt signaling pathways in gastric cancer and identified a WNT5A/FZD2/FZD7/ROR2 signature associated with tumor-infiltrating and mesenchymal cell marker expression. High expression of FZD7 and ROR2 correlated with a shared gene and protein expression profile, which in turn correlated with poor prognosis. Overall, the findings provide an updated perspective on the contributions of the Wnt/beta-catenin and non-canonical Wnt pathways in gastric cancer.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biology
Karen Dunbar, Rebecca A. Jones, Kevin Dingwell, Thomas J. Macartney, James C. Smith, Gopal P. Sapkota
Summary: FAM83F protein interacts with CK1 alpha at the plasma membrane to activate Wnt signaling, leading to axis duplication in Xenopus embryos, and its effects on Wnt signaling are mediated through farnesylation at the plasma membrane.
LIFE SCIENCE ALLIANCE
(2021)
Review
Cell Biology
Ian James Bell, Matthew Sheldon Horn, Terence John Van Raay
Summary: The non-canonical Wnt signaling pathways have different roles in cancer and development, involving calcium and Vangl2. Cells tend to choose non-canonical Wnt signaling over canonical Wnt signaling when presented with a choice, but this occurs rarely in vivo.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2022)
Article
Biology
Katarzyna Szymanska, Karsten Boldt, Clare Logan, Matthew Adams, Philip A. Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A. Johnson
Summary: This study provides mechanistic insight into ciliary ubiquitin processing and uncovers UBE2E1 and RNF34 as novel interactants of MKS1. UBE2E1 mediates both regulatory and degradative ubiquitination of MKS1, and phosphorylated beta-catenin processing occurs at the ciliary base.
Article
Immunology
Safaa A. Faheem, Reem M. Hazem, Norhan M. Elsayed, Yasser M. Ahmed, Noha M. Saeed
Summary: The study aimed to assess the involvement of Wnt/beta-catenin signaling in CsA-induced hepatotoxicity and whether knockdown of this pathway by NCL can attenuate CsA-induced hepatotoxicity. The results showed that NCL can significantly decrease liver enzymes activities, improve histopathological alterations induced by CsA, alleviate oxidative stress and inflammation. Moreover, NCL inhibited Wnt/beta-catenin signaling and increased the expression of PPAR-gamma.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Cell Biology
Jessica Schaefer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Summary: Human Usher syndrome (USH) is a complex genetic disorder that causes combined deafness and blindness. The underlying mechanisms of the disease, particularly in the eye and retina, are not well understood. This study identifies a role for the scaffold protein harmonin, encoded by the USH1C gene, in regulating the canonical Wnt/beta-catenin signaling pathway. The findings suggest that USH1C/harmonin acts as a suppressor of the pathway, and dysregulation of this pathway may contribute to the development of USH.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Chemistry, Medicinal
Hanwen Gu, Jian Wei
Summary: This study found that peiminine can regulate osteogenesis and adipogenesis in ovariectomized rats, and prevent ovariectomy-induced osteoporosis by activating the Wnt/β-catenin pathway. These findings suggest that peiminine has the potential to be a preventive treatment for osteoporosis.
PHYTOTHERAPY RESEARCH
(2023)
Article
Chemistry, Multidisciplinary
Shaoqin Zheng, Jiahui Lin, Zhongqiu Pang, Hui Zhang, Yinuo Wang, Lanjing Ma, Haijiao Zhang, Xi Zhang, Maorong Chen, Xinjun Zhang, Chao Zhao, Jun Qi, Liu Cao, Min Wang, Xi He, Ren Sheng
Summary: In this study, researchers discovered that cholesterol binds specifically to the Fzd5 receptor, enabling its maturation and trafficking to the plasma membrane. Cholesterol stimulates tumor growth in Wnt-addicted pancreatic ductal adenocarcinoma through Fzd5-mediated signaling, while a natural compound can inhibit this process. These findings reveal a novel mechanism by which Fzd5 acts as a cholesterol sensor and suggest potential therapeutic opportunities for Wnt-dependent cancers.
Article
Pathology
Jie Zhang, Sujie Zhang, Xiaoyan Li, Fan Zhang, Lei Zhao
Summary: The study revealed that HOXB5 expression is increased in breast cancer and positively correlated with tumor size, TNM stage, and lymph node metastasis. The oncogenic function of HOXB5 in breast cancer is mediated through the activation of the wnt/beta-catenin pathway.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Correction
Cell Biology
Anika Bottcher, Maren Buttner, Sophie Tritschler, Michael Sterr, Alexandra Aliluev, Lena Oppenlander, Ingo Burtscher, Steffen Sass, Martin Irmler, Johannes Beckers, Christoph Ziegenhain, Wolfgang Enard, Andrea C. Schamberger, Fien M. Verhamme, Oliver Eickelberg, Fabian J. Theis, Heiko Lickert
Summary: A correction has been published for this paper, the details can be found at the provided link.
NATURE CELL BIOLOGY
(2021)
Article
Cell Biology
Ruiyao Xu, Xianxian Wang, Sadia Safi, Nico Braunegger, Agnes Hipgrave Ederveen, Michelle Rottmann, Joachim Wittbrodt, Manfred Wuhrer, Janine Wesslowski, Gary Davidson
Summary: Reception of Wnt signals is mediated by Frizzled receptors and a co-receptor LRP6 or LRP5. Precise control of receptor activation is crucial to regulate Wnt/beta-catenin signaling for proper cellular function. A glycosyltransferase B3GnT2-like has been identified to modify LRP6 and enhance Wnt/beta-catenin signaling. This study highlights the importance of LRP6 as a regulatory hub in Wnt signaling and provides insight into the selective targeting of a signaling pathway component by a specific glycosyltransferase.
Article
Cardiac & Cardiovascular Systems
Javier E. Sierra-Pagan, Nikita Dsouza, Satyabrata Das, Thijs A. Larson, Jacob R. Sorensen, Xiao Ma, Patricia Stan, Erik J. Wanberg, Xiaozhong Shi, Mary G. Garry, Wuming Gong, Daniel J. Garry
Summary: FOXK1 is identified as a crucial transcriptional and epigenetic regulator of cardiovascular development by repressing the Wnt/beta-catenin signaling pathway and promoting cardiac progenitor cell differentiation.
CARDIOVASCULAR RESEARCH
(2023)
Review
Neurosciences
Samuel Teo, Patricia C. Salinas
Summary: The formation of synapses is tightly regulated and vital for the treatment of neurological disorders. Wnt signaling plays a key role in synapse formation by modulating neuronal activity.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Microbiology
Chongyang Wang, Ruochen Hu, Liuyuan Duan, Qili Hou, Mengqing Yang, Ting Wang, Haijin Liu, Sa Xiao, Ruyi Dang, Juan Wang, Xinglong Wang, Shuxia Zhang, Zengqi Yang
Summary: This study showed that pseudorabies virus (PRV) infection activates the Wnt/beta-catenin signaling pathway, leading to enhanced virus proliferation and regulation of virus-induced autophagy. Inhibitors of this pathway can reduce PRV titers, while stimulation of the pathway can enhance PRV proliferation. These findings provide potential targets for the development of antiviral agents against PRV.
VETERINARY MICROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Marilena Elpidorou, James A. Poulter, Katarzyna Szymanska, Wia Baron, Katrin Junger, Karsten Boldt, Marius Ueffing, Lydia Green, John H. Livingston, Eammon G. Sheridan, Colin A. Johnson
Summary: This study found that a mutation in the MAL gene can cause a hypomyelinating leukodystrophy similar to Pelizaeus-Merzbacher disease. The mutant MAL gene affects the distribution of PLP1, leading to abnormal development of cerebral white matter.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Oncology
Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan-Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al-Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Luhrmann, Sushma Nagaraja-Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari-Jovin, Majlinda Lako
Summary: Mutations in PRPF31, a core protein of the spliceosomal tri-snRNP complex, cause autosomal-dominant retinitis pigmentosa (adRP). This study used iPSC technology to generate retinal organoids and RPE models from PRPF31-adRP patients, and found that RNA splicing, autophagy and lysosome, and visual cycle pathways were significantly affected. The accumulation of cytoplasmic aggregates and impaired waste disposal mechanisms were also observed in patient-derived cells. Activation of the autophagy pathway reduced the aggregates and improved cell survival.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle
Summary: In this study, individuals carrying GRIA1 variants were identified and found to be associated with neurodevelopmental disorders, mainly affecting cognition and speech. Functional evaluation and animal models further confirmed the impact of these variants on AMPAR function.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Jack Harrington, Gabrielle Wheway, Sandrine Willaime-Morawek, Jane Gibson, Zoe S. Walters
Summary: Histone modifying enzymes, especially KDM5B, play a critical role in development and developmental disorders. Understanding the mechanism of KDM5B can provide insights into development and developmental disorders.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
(2022)
Article
Respiratory System
Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Genomics England Research Genomics England Res Consortium, Carme Camps, Jenny Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris-Rosendahl, Hannah M. Mitchison, Anthony De Soyza
Summary: This study suggests that motile ciliopathies are often underdiagnosed as a cause of bronchiectasis. Increased utilization of genetic testing can help identify bronchiectasis caused by motile ciliopathies and ensure appropriate management.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Article
Genetics & Heredity
Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P. J. Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M. Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S. Leslie, Emma Baple, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A. Johnson
Summary: Reverse phenotyping improves the rate of successful molecular diagnosis for patients with primary ciliopathies. Previous analyses may have missed these diagnoses due to incomplete clinical data, highlighting the importance of better phenotyping for accurate diagnosis and improved patient outcomes.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Ophthalmology
Samar Yahya, Claire E. L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kampjarvi, Muhammad Khan, Frans P. M. Cremers, Alison J. Hardcastle, Bruce Castle, David H. W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn
Summary: The purpose of this study was to characterize the phenotype observed in a case series with macular disease and determine the cause. Through ophthalmic examination and genetic sequencing, it was found that all patients carried the same gene deletion that caused late-onset macular disease.
Article
Genetics & Heredity
Laura A. Devlin, Janice Coles, Claire L. Jackson, Miguel Barroso-Gil, Ben Green, Woolf T. Walker, N. Simon Thomas, James Thompson, Simon A. Rock, Ruxandra Neatu, Laura Powell, Elisa Molinari, Ian J. Wilson, Heather J. Cordell, Eric Olinger, Colin G. Miles, John A. Sayer, Gabrielle Wheway, Jane S. Lucas
Summary: Ciliopathies can be classified as primary or motile, with primary ciliopathies associated with multisystem syndromes and motile ciliopathies associated with specialized motile ciliated tissue defects. Mutations in the CEP164 gene can contribute to both primary and motile ciliopathy syndromes.
Article
Genetics & Heredity
Samar Yahya, Christopher M. Watson, Ian Carr, Martin McKibbin, Laura A. Crinnion, Morag Taylor, Hope Bonin, Tracy Fletcher, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn
Summary: Long-read nanopore sequencing successfully reads through a 2 kb PCR-amplified fragment containing ORF15 and identifies two new cases with pathogenic ORF15 variants. The use of a flow cell wash kit containing DNase I unblocks the pores, allowing reloading of library aliquots and increasing yield.
MOLECULAR DIAGNOSIS & THERAPY
(2023)
Article
Multidisciplinary Sciences
Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim
Summary: Mutations in the TMEM260 gene cause heart defects and renal anomalies syndrome. The TMEM260 gene encodes an ER-located protein O-mannosyltransferase that selectively glycosylates IPT domains. Disease-causing TMEM260 mutations impair O-mannosylation of IPT domains and result in receptor matura-tion defects and abnormal growth of 3D cell models.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Microbiology
Aditi Kumar, Mohammed Nabil Quraishi, Hafid O. Al-Hassi, Mohammed E. El-Asrag, Jonathan P. Segal, Manushri Jain, Helen Steed, Jeffrey Butterworth, Adam Farmer, John Mclaughlin, Andrew Beggs, Matthew J. Brookes
Summary: This study aimed to characterize the microbiome in different cohorts of patients with bile acid diarrhea (BAD) and determine if treatment with the bile acid sequestrant colesevelam could alter the microbiome. The study found that BAD patients had reduced microbiome diversity, but patients who responded to colesevelam treatment had increased abundance of certain bacteria. This is the first study to examine the treatment effects on the microbiome in BAD, suggesting a possible association between colesevelam and the microbiome through bile acid modulation in clinical responders.
FRONTIERS IN MICROBIOLOGY
(2023)
Article
Genetics & Heredity
Basudha Basu, Alice V. R. Lake, Becky China, Katarzyna Szymanska, Gabrielle Wheway, Sandra Bell, Ewan Morrison, Jacquelyn Bond, Colin A. Johnson
Summary: This study re-analyzed a genetic screen to identify the mechanisms behind aberrant formation of supernumerary primary cilia in mammalian cells. RACGAP1 was identified as the strongest candidate hit. The results showed that cytokinesis failure led to the formation of supernumerary cilia, and this has functional implications in diseases marked by centrosomal amplification.
ANNALS OF HUMAN GENETICS
(2023)
Article
Medicine, Research & Experimental
Yomogi Shiota (Sato), Mohamed Elbadawy, Kazuhiko Suzuki, Ryouichi Tsunedomi, Hiroaki Nagano, Yusuke Ishihara, Haru Yamamoto, Daigo Azakami, Tsuyoshi Uchide, Ryuji Fukushima, Ryo Tanaka, Tomohiko Yoshida, Takuya Mori, Amira Abugomaa, Masahiro Kaneda, Hideyuki Yamawaki, Yuta Shinohara, Mohamed Aboubakr, Mohamed E. El-Asrag, Tatsuya Usui, Kazuaki Sasaki
Summary: Canine primary lung cancer (cPLC) is a rare malignant tumor in dogs with poor prognosis. This study successfully generated cPLC organoids (cPLCO) that recapitulated the tissue architecture of cPLC, expressed lung adenocarcinoma marker (TTF1), and exhibited tumorigenesis in vivo. The cPLCO model showed differential sensitivity to anticancer drugs and enrichment of the MEK signaling pathway, with the MEK inhibitor, trametinib, inhibiting cPLC growth. This cPLCO model could serve as a useful tool for biomarker identification and research on dog and human lung cancer.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Article
Materials Science, Biomaterials
Fatmah I. Ghuloum, Lee A. Stevens, Colin A. Johnson, Natalia A. Riobo-Del Galdo, Mahetab H. Amer
Summary: This study proposes a mechanism linking the activation of Hedgehog signalling to the osteoinductive effect of surface-engineered, topographically-textured polymeric microparticles. The researchers found that the topographical microenvironment plays a role in modulating Hedgehog signalling and inducing osteogenesis in mesenchymal stem cells. This study highlights the potential for tailoring substrate topographical design to offer cell-instructive 3D microenvironments.
BIOMATERIALS ADVANCES
(2023)