Article
Cell & Tissue Engineering
Tianyi Xin, Qian Li, Rushui Bai, Ting Zhang, Yanheng Zhou, Yuehua Zhang, Bing Han, Ruili Yang
Summary: A novel frameshift mutation of SATB2 was identified in a Chinese patient with SATB2-associated syndrome (SAS) exhibiting tooth agenesis. Mechanistically, SATB2 regulates osteo/odontogenesis of human dental pulp stem cells through the Wnt/beta-catenin signaling pathway by regulating DKK1 and histone demethylase JHDM1D.
STEM CELL RESEARCH & THERAPY
(2021)
Review
Cell Biology
Florian Hermans, Lara Hemeryck, Ivo Lambrichts, Annelies Bronckaers, Hugo Vankelecom
Summary: Tooth development relies on interactions between dental epithelium and mesenchyme, regulated by molecular pathways including Wnt, BMP, FGF, and Shh. These signaling modules intertwine during tooth development, outlining specific cell populations' development pathways.Recent studies have uncovered crucial Wnt-Shh interactions during odontogenesis, showing conservation in developing ectodermal appendages.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell & Tissue Engineering
Junquan Tian, Yuying Li, Xuetai Bao, Fan Yang, Xiongzhuo Tang, Qian Jiang, Yulong Yin, Kang Yao
Summary: Early weaning inhibits the self-renewal and function of intestinal stem cells, leading to intestinal atrophy. This is potentially due to the suppression of Wnt signaling and activation of proinflammatory cytokines. These findings may offer a potential therapeutic approach for alleviating intestinal problems caused by early weaning.
STEM CELL RESEARCH & THERAPY
(2023)
Article
Medicine, Research & Experimental
Jian Song, Nan Jiang, Xueqi Gan, Wei Zhi, Zhuoli Zhu
Summary: The study demonstrated that the local injection of argatroban can rescue bone loss in periodontal disease, while inducing osteogenic differentiation through activating the canonical Wnt signaling pathway. Therefore, argatroban has potential applications in promoting alveolar bone regeneration and remodeling based on BMSCs.
Article
Oncology
Kathleen A. O'Leary, Debra E. Rugowski, Michael P. Shea, Ruth Sullivan, Amy R. Moser, Linda A. Schuler
Summary: Prolactin (PRL) collaborates with Apc(Min/+) to increase tumor incidence and modulate cancer stem cell activity through Notch-driven signals, shedding light on mechanisms whereby PRL elevates risk of breast cancer.
Article
Cell Biology
Wenping Luo, Linghuan Zhang, Bo Huang, Hongmei Zhang, Yan Zhang, Fugui Zhang, Panpan Liang, Qiuman Chen, Qianyu Cheng, Dongmei Tan, Yi Tan, Jinlin Song, Tianyu Zhao, Rex C. Haydon, Russell R. Reid, Hue H. Luu, Michael J. Lee, Mostafa El Dafrawy, Ping Ji, Tong-Chuan He, Liming Gou
Summary: The study showed that Wnt/beta-catenin signaling plays a crucial role in BMP9-induced osteogenic/odontogenic differentiation of TGMCs, contributing to the formation of teeth from tooth germ mesenchymal cells. The reversibly immortalized iTGMCs retained their osteogenic/odontogenic ability upon BMP9 stimulation, but this process required the involvement of canonical Wnt signaling both in vitro and in vivo.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Qiyun Xiao, Johannes Werner, Nachiyappan Venkatachalam, Kim E. Boonekamp, Matthias P. Ebert, Tianzuo Zhan
Summary: Targeting cancer hallmarks is crucial for improving anti-cancer treatment, but cross-talk between signaling pathways often leads to resistance. This article provides an overview of the molecular interactions between the p53 and Wnt pathways in cancer, including complex feedback loops and reciprocal transactivation, as well as the mutational landscape of genes associated with these pathways.
Article
Cell Biology
Laura E. Sanman, Ina W. Chen, Jake M. Bieber, Veronica Steri, Coralie Trentesaux, Byron Hann, Ophir D. Klein, Lani F. Wu, Steven J. Altschuler
Summary: By investigating the responses of intestinal epithelium to different signaling pathways, it was found that modulation of transit-amplifying cell proliferation can change the ratio of differentiated cell types, highlighting the important role of transit-amplifying cells in tuning differentiated cell-type composition.
DEVELOPMENTAL CELL
(2021)
Article
Pathology
Sonja Chen, Sara Gallant, Michael J. Cunningham, Caroline D. Robson, Alanna J. Church, Antonio R. Perez-Atayde, Alyaa Al-Ibraheemi
Summary: This study describes 8 cases of sinonasal myxoma (SNM) and analyzes the clinical and biological differences compared to desmoid fibromatosis. The findings expand the understanding of SNM and highlight its differences from desmoid fibromatosis in histology, clinical characteristics, and genetics.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2023)
Article
Biology
Giacomo L. Glotzer, Pietro Tardivo, Elly M. Tanaka
Summary: The expression of fibroblast growth factors (Fgf) ligands in the Apical Ectodermal Ridge (AER) is a conserved feature of limb development in vertebrates. However, the axolotl, a salamander species, has a unique mesenchymal expression of key Fgf ligands in its developing and regenerating limb. This study investigates the hypothesis that alterations in transcription factors and Wnt signaling during evolution have resulted in this unique expression pattern in the axolotl. The results suggest that a shift in tissue responsiveness to canonical Wnt signaling from epidermis to mesenchyme is one contributing factor to the mesenchymal expression of Fgf ligands in the axolotl.
Article
Biochemistry & Molecular Biology
Yuan Guo, Yan-Rong Zhao, Huan Liu, Yang Xin, Jian-Zhi Yu, Yun-Jin Zang, Qing-guo Xu
Summary: The study identified EHMT2 as a critical factor in the development of hepatocellular carcinoma, showing that elevated EHMT2 expression promotes tumorigenesis and activates the Wnt-beta-catenin signaling pathway. EHMT2 was found to epigenetically silence the APC promoter through methylation, and the specific inhibitor UNC0642 demonstrated anti-tumorigenesis effects in HCC, suggesting it as a potential candidate for targeted drug therapy.
CELL AND BIOSCIENCE
(2021)
Article
Virology
Ning Yang, Yunhang Zhang, Yuguang Fu, Yang Li, Shanshan Yang, Jianing Chen, Guangliang Liu
Summary: This study investigated the effects of transmissible gastroenteritis virus (TGEV) infection on the small intestine of pigs and its impact on intestinal stem cells (ISCs). The results revealed that TGEV infection activates the Wnt/beta-catenin pathway to promote the self-renewal of ISCs and facilitate intestinal epithelium regeneration.
JOURNAL OF VIROLOGY
(2022)
Article
Multidisciplinary Sciences
Line Mygland, Shoshy Alam Brinch, Martin Frank Strand, Petter Angell Olsen, Aleksandra Aizenshtadt, Kaja Lund, Nina Therese Solberg, Max Lycke, Tor Espen Thorvaldsen, Sandra Espada, Dorna Misaghian, Christian M. Page, Oleg Agafonov, Stale Nygard, Nai-Wen Chi, Eva Lin, Jenille Tan, Yihong Yu, Mike Costa, Stefan Krauss, Jo Waaler
Summary: Small-molecule tankyrase 1 and tankyrase 2 (TNKS1/2) inhibitors have shown to be effective antitumor agents in specific tumor cell lines, with the ability to inhibit key signaling pathways and reduce expression of crucial oncogenes, ultimately impairing cell growth. Additionally, these inhibitors induce the accumulation of beta-catenin degradasomes containing TNKS1/2, which interact with YAP and angiomotin proteins, leading to attenuation of YAP signaling. Further research is needed to fully evaluate the potential of TNKS inhibitors in cancer treatment.
Article
Oncology
Huajun Han, Laurie A. Davidson, Martha Hensel, Grace Yoon, Kerstin Landrock, Clinton Allred, Arul Jayaraman, Ivan Ivanov, Stephen H. Safe, Robert S. Chapkin
Summary: The study reveals the protective role of AhR signaling in genetically induced colon tumorigenesis at least by suppressing Wnt signaling and provides rationale for the AhR as a therapeutic target for cancer prevention and treatment.
MOLECULAR CANCER RESEARCH
(2021)
Article
Multidisciplinary Sciences
Pratyusha Bala, Jonathan P. Rennhack, Daulet Aitymbayev, Clare Morris, Sydney M. Moyer, Gina N. Duronio, Paul Doan, Zhixin Li, Xiaoyan Liang, Jason L. Hornick, Matthew B. Yurgelun, William C. Hahn, Nilay S. Sethi
Summary: Cell state plasticity is regulated in adult epithelia to prevent cancer, but its expansion in neoplasia is poorly understood. Mouse models and patient samples revealed that impaired differentiation precedes cancer development, with aberrant transcriptional state marked by Ly6a and reactivation of fetal genes. Genetic inactivation of Sox9 prevents adenoma formation and restores multilineage differentiation. These findings indicate that unabated regenerative activity and developmental reprogramming contribute to the aberrant cell state plasticity preceding cancer development.
Article
Biochemical Research Methods
Minseok Kwon, Soohyun Lee, Michele Berselli, Chong Chu, Peter J. Park
Summary: Visual inspection of read-level data remains crucial for accurate variant identification despite improvements in algorithms. BamSnap, an efficient BAM file viewer, can rapidly generate high-quality snapshots with customized tracks and layout, serving as a valuable tool in genome analysis.
Article
Neurosciences
Maxwell A. Sherman, Rachel E. Rodin, Giulio Genovese, Caroline Dias, Alison R. Barton, Ronen E. Mukamel, Bonnie Berger, Peter J. Park, Christopher A. Walsh, Po-Ru Loh
Summary: The contribution of mosaic copy number variants (mCNVs) to the risk of autism spectrum disorder (ASD) was investigated in a study, revealing that probands with ASD carry a significant burden of mCNVs compared to their unaffected siblings, particularly large mCNVs. Additionally, the severity of ASD symptoms correlated positively with the size of mCNVs, and no mosaic analogues of common short de novo CNVs associated with ASD were observed.
NATURE NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Jeremy P. Goering, Dona G. Isai, Everett G. Hall, Nathan R. Wilson, Edina Kosa, Luke W. Wenger, Zaid Umar, Abdul Yousaf, Andras Czirok, Irfan Saadi
Summary: Cleft lip and/or palate (CL/P) are common anomalies occurring in 1/800 live-births. Pathogenic SPECC1L variants have been identified in patients with CL/P, signifying a primary role for SPECC1L in craniofacial development. The study reveals that SPECC1L deficiency affects cellular movement and remodeling during palatal shelf elevation, and highlights a novel role for SPECC1L in collective movement through modulation of PI3K-AKT signaling.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Syed K. Rafi, Jeremy P. Goering, Adam J. Olm-Shipman, Lauren A. Hipp, Nicholas J. Ernst, Nathan R. Wilson, Everett G. Hall, Sumedha Gunewardena, Irfan Saadi
Summary: Topiramate use during pregnancy is associated with an increased risk of babies born with orofacial clefts, potentially due to the abnormal overexpression of TGF beta 1 and SOX9 genes, which play critical roles in orofacial morphogenesis.
Article
Multidisciplinary Sciences
Jeremy P. Goering, Dona Greta Isai, Andras Czirok, Irfan Saadi
Summary: Palate development is a dynamic process involving the remodeling of palatal shelf mesenchymal cells, which play a crucial role in shelf elevation. Recent studies using time-lapse imaging have shown that primary mouse embryonic palatal mesenchymal cells can self-organize into collective movements. This provides a valuable model for studying mesenchymal remodeling during palate elevation and collective cell movement in general.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2021)
Article
Multidisciplinary Sciences
Sara Bizzotto, Yanmei Dou, Javier Ganz, Ryan N. Doan, Minseok Kwon, Craig L. Bohrson, Sonia N. Kim, Taejeong Bae, Alexej Abyzov, Peter J. Park, Christopher A. Walsh
Summary: Through high-depth whole-genome sequencing and single-cell analysis, this study reveals the process of early cell division in human embryonic development and explores the asymmetric contributions of early progenitors to the formation of different organs and tissues.
Article
Biochemistry & Molecular Biology
Jeremy P. Goering, Luke W. Wenger, Marta Stetsiv, Michael Moedritzer, Everett G. Hall, Dona Greta Isai, Brittany M. Jack, Zaid Umar, Madison K. Rickabaugh, Andras Czirok, Irfan Saadi
Summary: Patients with autosomal dominant SPECC1L variants exhibit syndromic malformations such as hypertelorism, cleft palate, and omphalocele. Mutations in the SPECC1L gene in mice result in birth defects like exencephaly and cleft palate. Normal SPECC1L protein is evenly distributed in the cell cytoplasm and interacts with microtubules and actin, while mutant SPECC1L with deletions shows abnormal perinuclear accumulation and disrupted cell cytoskeletal organization, affecting tissue fusion dynamics.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemical Research Methods
Soohyun Lee, Clara Bakker, Carl Vitzthum, Burak H. Alver, Peter J. Park
Summary: With the increasing amount of 3D chromosomal interaction data, efficient storage and access to such data become crucial. Pairs is a block-compressed text file format for storing paired genomic coordinates from Hi-C data, and Pairix is an open-source C application for indexing and querying Pairs files. Additionally, PairsQC is a collapsible HTML quality control report generator for Pairs files.
Review
Genetics & Heredity
Isidro Cortes-Ciriano, Doga C. Gulhan, Jake June-Koo Lee, Giorgio E. M. Melloni, Peter J. Park
Summary: This review provides an overview of key algorithmic developments, popular tools, and emerging technologies used in the bioinformatic analysis of cancer genomes. It also describes how such analysis can identify point mutations, copy number alterations, structural variations, and mutational signatures in cancer genomes.
NATURE REVIEWS GENETICS
(2022)
Article
Oncology
Sudhakiranmayi Kuravi, Riley W. Baker, Muhammad Umair Mushtaq, Irfan Saadi, Tara L. Lin, Carolyn J. Vivian, Anusha Valluripalli, Sunil Abhyankar, Siddhartha Ganguly, Wei Cui, Kojo S. J. Elenitoba-Johnson, Danny R. Welch, Roy A. Jensen, Yogen Saunthararajah, Joseph P. McGuirk, Ramesh Balusu
Summary: This study identified a novel fusion gene NPM1-TYK2, which plays an oncogenic role in lymphoproliferative disorders, and provided experimental evidence for its transformative effect on cells.
NPJ PRECISION ONCOLOGY
(2022)
Article
Multidisciplinary Sciences
Zijie Jin, Wenjian Huang, Ning Shen, Juan Li, Xiaochen Wang, Jigiao Dong, Peter J. Park, Ruibin Xi
Summary: The authors developed a computational tool called scFusion for detecting gene fusions in single-cell RNA sequencing data. Evaluation using simulated and real datasets showed that scFusion efficiently and sensitively detects fusions with low false discovery rate. The method was applied to study cellular heterogeneity and transcriptional impact of gene fusions at the single-cell level.
NATURE COMMUNICATIONS
(2022)
Article
Developmental Biology
Jessica W. Bertol, Shelby Johnston, Rabia Ahmed, Victoria K. Xie, Kelsea M. Hubka, Lissette Cruz, Larissa Nitschke, Marta Stetsiv, Jeremy P. Goering, Paul Nistor, Sally Lowell, Hanne Hoskens, Peter Claes, Seth M. Weinberg, Irfan Saadi, Mary C. Farach-Carson, Walid D. Fakhouri
Summary: This study elucidates the mechanistic role of Twist1 and Irf6 in the neural tube and cranial neural crest cells (CNCCs), highlighting their importance in the epithelial-to-mesenchymal transition and cell migration processes.
Article
Dentistry, Oral Surgery & Medicine
Marii Azumane, Shojiro Ikezaki, Keishi Otsu, Mika Kumakami-Sakano, Haruno Arai, Hiroyuki Yamada, Paivi Kettunen, Hidemitsu Harada
Summary: This study investigates the molecular mechanisms underlying the maintenance of Hertwig's epithelial root sheath (HERS) and the development of epithelial rests of Malassez (ERM) during root dentin formation. The researchers observed the expression of semaphorin receptors in HERS cells and the activation of RhoA signaling pathway, while TGF-beta signaling pathway promoted cell migration and reduced E-cadherin expression. These findings provide insights into the opposing effects of semaphorin and TGF-beta signaling in controlling HERS maintenance and EMT during root formation.
JOURNAL OF PERIODONTAL RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Irfan Saadi, Jeremy P. Goering, Brittany M. Hufft-Martinez, Pamela V. Tran
Summary: Many structural birth defects are caused by failures in tissue movement and fusion events during embryogenesis. The SPECC1L protein has been found to associate with microtubules, actin filaments, non-muscle myosin II, and membrane-associated components of adherens junctions. SPECC1L deficiency appears to affect tissue dynamics and plays an important role in studying embryonic tissue movement and fusion events.
BIOCHEMICAL SOCIETY TRANSACTIONS
(2023)
Article
Dentistry, Oral Surgery & Medicine
H. Ida-Yonemochi, K. Otsu, T. Irie, A. Ohazama, H. Harada, H. Ohshima
Summary: Autophagy plays a crucial role in the maintenance of dental epithelial stem cells and enamel formation. Deficiency in autophagy may lead to tumorigenesis in dental epithelial cells.
JOURNAL OF DENTAL RESEARCH
(2023)