Article
Pediatrics
Lei Zeng, Jie-Yuan Jin, Fang-Mei Luo, Yue Sheng, Pan-Feng Wu, Rong Xiang
Summary: This study recruited 167 patients with preaxial polydactyly (PPD) from Central-South China and identified four ZRS variants in four patients. The study found that the detection rate of ZRS variants differed between PPD I and PPD II, and bilateral PPD cases were more likely to be caused by genetic factors.
FRONTIERS IN PEDIATRICS
(2022)
Article
Cell Biology
Maeva Luxey, Gabriela Stieger, Bianka Berki, Patrick Tschopp
Summary: The tetrapod limb has been widely studied to understand vertebrate pattern formation and evolutionary diversification. While the skeletal alterations have been well studied, less is known about the changes in the neuromuscular system. In this study, the researchers analyze the developing limb neuromuscular system of Silkie breed chicken to evaluate the degree of regulative crosstalk in the limb patterning process.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Orthopedics
Young Ho Shin, Jun O. Yoon, Hyung Seo Jung, Hyun Seok Joo, Jae Kwang Kim
Summary: This study describes a new technique for excising rudimentary preaxial polydactyly of the hand using electrocautery and evaluates its clinical outcomes. The results show that this technique can completely remove the extra digit with minimal complications, and the patients and parents are highly satisfied with the outcomes.
CLINICS IN ORTHOPEDIC SURGERY
(2022)
Article
Cell Biology
Jie-Yuan Jin, Pan-Feng Wu, Fang-Mei Luo, Bing-Bing Guo, Lei Zeng, Liang-Liang Fan, Ju-Yu Tang, Rong Xiang
Summary: This study identified two GLIS1 variants in PPD I patients and first linked GLIS1 with PPD I. Our findings contributed to future molecular and clinical diagnosis of PPD and deepened our knowledge of this disease.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Developmental Biology
Max Meuser, Lena Deuper, Carsten Rudat, Nurullah Aydogdu, Hauke Thiesler, Patricia Zarnovican, Herbert Hildebrandt, Mark-Oliver Trowe, Andreas Kispert
Summary: The patterned array of cells in the mature ureter depends on reciprocal signaling between the epithelium and surrounding mesenchyme, with FGFR2 playing a crucial role. Fgfr2 loss leads to defects in urothelial proliferation, stratification, and differentiation, as well as mesenchymal cell survival and smooth muscle cell differentiation. SHH and BMP4 signaling are affected by Fgfr2 loss, and their activation can rescue the cellular defects in mutant ureters.
Article
Developmental Biology
Lena Deuper, Max Meuser, Hauke Thiesler, Ulrich W. H. Jany, Carsten Rudat, Herbert Hildebrandt, Mark-Oliver Trowe, Andreas Kispert
Summary: The coordinated development of mesenchymal and epithelial progenitors in the murine ureter is regulated by diverse signaling activities. Epithelial FGFR2 signaling enhances epithelial stratification and differentiation through increased expression of Shh, SHH, and BMP4. FGFR1 and FGFR2 in the mesenchyme regulate mesenchymal patterning and differentiation by modulating the SHH/BMP4 signaling axis.
Review
Biochemistry & Molecular Biology
Yo Niida, Sumihito Togi, Hiroki Ura
Summary: This review highlights the significance of the Sonic hedgehog (SHH) signaling pathway in human hereditary malformation syndromes, describing the molecular mechanisms, phenotype characteristics, and the relationship between GLI activity and abnormalities in these syndromes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Deepika Sharma, Anthony J. Mirando, Abigail Leinroth, Jason T. Long, Courtney M. Karner, Matthew J. Hilton
Summary: Sonic Hedgehog/GLI3 signaling plays a critical role in regulating digit number, controlling cell cycle factors, chondrogenesis, and gene expression. HES1, identified as a downstream modifier of the SHH/GLI signaling axis, is essential for polydactyly development and overcoming digit number constraints.
Editorial Material
Cell Biology
Burcu Erdogan, Jessica L. Whited
Summary: Engineered light-inducible artificial myosin motors allow for selective manipulation of filopodial extensions, providing refined tools for controlling intracellular cargo transport in vivo.
NATURE CELL BIOLOGY
(2021)
Article
Surgery
Max L. Silverstein, Leah W. Burke, Donald R. Laub
Summary: Preaxial polydactyly of the foot is rare and can be associated with various congenital abnormalities and syndromes. Recognizing these associations is crucial for proper diagnosis and management of these patients. Plastic surgeons should be aware of the complexity of preaxial polydactyly and potential syndromic presentations in order to provide appropriate care.
PLASTIC AND RECONSTRUCTIVE SURGERY-GLOBAL OPEN
(2021)
Article
Multidisciplinary Sciences
Fei Pei, Li Ma, Junjun Jing, Jifan Feng, Yuan Yuan, Tingwei Guo, Xia Han, Thach-Vu Ho, Jie Lei, Jinzhi He, Mingyi Zhang, Jian-Fu Chen, Yang Chai
Summary: Sensory nerves play a critical role in maintaining the homeostasis of mesenchymal stem cells (MSCs) through FGF1, mTOR signaling, and autophagy. The sensory nerve is essential for the stability of mesenchymal tissue and the maintenance of MSCs in adult mouse incisors. FGF1 from the sensory nerve directly activates the mTOR/autophagy axis in MSCs via binding to FGFR1.
NATURE COMMUNICATIONS
(2023)
Editorial Material
Cell Biology
Hyunji Lee, Steven A. Vokes
Summary: A brief exposure to Sonic Hedgehog is shown to be sufficient for digit specification, suggesting that Hedgehog signaling is not acting as a direct morphogen but rather as an initiator of this process.
DEVELOPMENTAL CELL
(2022)
Article
Anatomy & Morphology
Rutuja Pawde, Shivam Gaur, Venkatraman Indiran
Summary: This case study presents a rare congenital anomaly of mirror feet with varus deformity in a 22-year-old patient. X-ray images of both feet showed three extra toes on each foot, characteristic of mirror foot, along with varus deformity at the subtalar joint. Despite the unusual late presentation, no syndromatic association was found.
SURGICAL AND RADIOLOGIC ANATOMY
(2021)
Article
Medicine, Research & Experimental
Jingxian Li, Yuanjiong Qi, Bo Li, Yan Liu, Kuo Yang, Zhihong Zhang, Jianqiang Zhu, E. Du
Summary: This study found that high expression of STIL is associated with poor outcomes in bladder cancer patients. Further analysis revealed that STIL overexpression could inhibit primary cilia (PC) formation, activate SHH signaling pathways, and promote cell proliferation, while STIL knockdown could promote PC formation, inactivate SHH signaling, and inhibit cell proliferation. Furthermore, STIL was found to regulate PC through AURKA. In summary, our findings provide a potential therapy target for bladder cancer based on the restoration of PC.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Tianli Qin, Chin Chung Ho, Boshi Wang, Chi-Chung Hui, Mai Har Sham
Summary: This study reveals that Sufu and Spop play crucial roles in controlling the timing and progression of sensory cell differentiation in the development of mammalian auditory epithelium. They maintain the progenitor state of sensory progenitor cells through regulation of the Shh-Gli2 signaling pathway, thus preventing hair cell differentiation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Developmental Biology
Cheng Shi, Pengfei Jiao, Zhiyi Chen, Lan Ma, Siyue Yao
Summary: This review discusses the molecular etiology of congenital craniofacial abnormalities, with a focus on the role and mechanism of noncoding RNAs in regulating craniofacial development. Aberrant expression of noncoding RNAs has been implicated in the pathogenesis of craniofacial abnormalities, providing potential therapeutic targets.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Hideru Togashi, Steven Ray Davis, Makoto Sato
Summary: Tile patterns, regulated by cell adhesion molecules, are regular arrangements of cells that play important functional roles in multicellular organisms. The physical constraints and cell adhesion regulate both cell shape and tissue morphogenesis.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Armen Khanbabei, Lina Segura, Cynthia Petrossian, Aaron Lemus, Ithan Cano, Courtney Frazier, Armen Halajyan, Donnie Ca, Mariano Loza-Coll
Summary: This article investigates the genetic regulatory mechanisms of Drosophila intestinal stem cells. The study found that most target genes co-regulated by Esg and STAT show a consistent gene expression pattern. However, manipulating these validated targets in vivo rarely replicated the effects of manipulating Esg and STAT, suggesting the presence of complex genetic interactions among the downstream targets of these two master regulator genes.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Bayley J. Waters, Zoe R. Birman, Matthew R. Wagner, Julia Lemanski, Barak Blum
Summary: Researchers found that conditional deletion of Robo2 in adult mice led to a significant loss of islet architecture without affecting beta cell identity or function, suggesting that Robo2 plays a role in actively maintaining adult islet architecture. Understanding the factors required for islet architecture maintenance is crucial for developing future diabetes therapies.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Rhiannon Clements, Tyler Smith, Luke Cowart, Jennifer Zhumi, Alan Sherrod, Aidan Cahill, Ginger L. Hunter
Summary: Cell protrusions play a crucial role in regulating cell activities during development. By studying the regulation mechanism in fruit fly sensory bristle patterning, it was found that Myosin XV is essential for the dynamics of signaling filopodia and promotes long-range Notch signaling.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Margaret Keating, Ryan Hagle, Daniel Osorio-Mendez, Anjelica Rodriguez-Parks, Sarah I. Almutawa, Junsu Kang
Summary: Knock-in reporter (KI) animals are essential for studying gene expression in biomedical research. This study developed a new strategy using minicircle technology and a minimal promoter to enhance knock-in events and establish stable KI transgenic reporter lines. The study also highlighted the importance of selecting the proper KI line due to potential inappropriate influence of genome editing on reporter gene expression.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Christian Altbuerger, Meta Rath, Daniel Armbruster, Wolfgang Driever
Summary: This study reveals that Neurog1 and Olig2 transcription factors have differential requirements for the development of dopaminergic neurons, and they integrate local patterning signals and Notch neurogenic selection signaling to specify the progenitor population and initiate neurogenesis and differentiation.
DEVELOPMENTAL BIOLOGY
(2024)