Review
Biochemistry & Molecular Biology
De-Li Shi
Summary: Gastrulation and neurulation are crucial morphogenetic processes involving cellular and molecular mechanisms to shape the embryonic body plan. Planar cell polarity proteins play a significant role in regulating these processes and their mutation can lead to various developmental defects and congenital diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Cell Biology
Robert J. Huebner, John B. Wallingford
Summary: Animals undergo morphogenetic processes through the movement of large cellular collectives, which require cadherin-based cell adhesion and planar cell polarity. This study investigates the relationship between cadherins and planar cell polarity during gastrulation cell movements and reveals that planar cell polarity controls the size and stability of cadherin clusters.
MOLECULAR BIOLOGY OF THE CELL
(2022)
Article
Biology
Vishnu Muraleedharan Saraswathy, Akshai Janardhana Kurup, Priyanka Sharma, Sophie Poles, Morgane Poulain, Maximilian Furthauer
Summary: Mib1 is an E3 ubiquitin ligase that controls Delta endocytosis and activates Notch signaling. However, recent studies have shown that Mib1 also has Notch-independent functions in zebrafish embryonic development, regulating convergence extension movements through the control of PCP signaling.
Article
Developmental Biology
Su Ee Tan, Weijie Tan, Katherine H. Fisher, David Strutt
Summary: The study introduced a novel planar polarity quantification method based on PCA, which is insensitive to cell geometry variation. Comparison with other methods revealed that the PCA method robustly quantifies planar polarity. A user-friendly interface called QuantifyPolarity was designed for automated polarity, morphology, and geometry analysis.
Review
Neurosciences
Michael R. Deans
Summary: Planar polarity in the inner ear is structurally and molecularly apparent and functionally significant, playing a crucial role in auditory and vestibular functions.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Developmental Biology
Alyssa C. Lesko, Raymond Keller, Ping Chen, Ann Sutherland
Summary: Formation of the vertebrate neural tube involves cell level processes such as polarized cell intercalation and shape changes, which are driven by gene expression and cytoskeletal dynamics. Mutations in the Scribble gene have been linked to neural tube defects in mice, affecting cell behavior at the molecular level. This study shows that Scribble plays a central role in regulating the molecular complexes and morphomechanical behaviors underlying neural tube formation in mammals.
DEVELOPMENTAL BIOLOGY
(2021)
Article
Cell Biology
Robert J. Huebner, Shinuo Weng, Chanjae Lee, Sena Sarikaya, Ophelia Papoulas, Rachael M. Cox, Edward M. Marcotte, John B. Wallingford
Summary: This article investigates the role of the Arvcf protein in controlling head-to-tail axis extension in Xenopus. It is found that Arvcf is necessary for axis extension in the intact organism, but not in isolated tissues. The study also reveals that the force defect is a result of the dampening of pulsatile recruitment of cell adhesion and cytoskeletal proteins.
DEVELOPMENTAL CELL
(2022)
Article
Biology
Sara N. Stahley, Lena P. Basta, Rishabh Sharan, Danelle Devenport
Summary: The study shows that mouse Celsr1 engages in both trans- and cis-interactions, forming stable punctate assemblies. However, the PCP-mutant variant Celsr1(Crsh) selectively impairs lateral cis-interactions and fails to organize PCP proteins into asymmetric junctional complexes.
Article
Multidisciplinary Sciences
Jaeho Yoon, Jian Sun, Moonsup Lee, Yoo-Seok Hwang, Ira O. Daar
Summary: Apical constriction is a crucial cell shape change for neural tube closure, and it is driven by actin-myosin networks. The WERDS complex, consisting of Wnt4, ephrinB2, Ror2, Dsh2, and Shroom3, plays an instructive role in this process. Disruption of the WERDS complex impairs apical constriction and neural tube closure, and the mechanism involves the interaction of ephrinB2 with Dsh2 to activate Rho-associated kinase and induce apical constriction. Furthermore, the ephrinB2/Dsh2 interaction promotes non-canonical Wnt signaling and coordinates the morphogenesis of the neural tube through crosstalk with the Eph/ephrin pathway.
NATURE COMMUNICATIONS
(2023)
Article
Developmental Biology
Sayuki Hirano, Yusuke Mii, Guillaume Charras, Tatsuo Michiue
Summary: This study reveals how mechanical signals regulate planar cell polarity (PCP) in the posterior neuroectoderm of Xenopus laevis. It shows that tension in the anterior-posterior direction plays a crucial role in maintaining PCP, and that cells sense tissue stretch indirectly through changes in their shape. Furthermore, the study suggests a cooperative relationship between tissue stretch direction and the diffusion of locally expressed Wnt ligands in establishing PCP.
Article
Cell Biology
Shinuo Weng, Robert J. Huebner, John B. Wallingford
Summary: Convergent extension is an evolutionarily conserved cell movement that elongates organ systems. Studies have shown that cell crawling and junction contraction are two distinct cellular mechanisms, and integrating these two modes via mechano-reciprocity can enhance the effectiveness of CE.
Review
Biochemistry & Molecular Biology
Caihong Wang, Kai Qu, Jing Wang, Rui Qin, Bingyi Li, Juhui Qiu, Guixue Wang
Summary: Cell polarity, especially in endothelial cells, plays a crucial role in various diseases and is regulated by biomechanical forces.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Review
Cell Biology
Courtney A. Dreyer, Kacey VanderVorst, Kermit L. Carraway
Summary: This article discusses the importance of Wnt/planar cell polarity (Wnt/PCP) signaling in the establishment of polarity and cellular motility events in developing and adult tissues. It highlights the role of the transmembrane protein Vangl as a master scaffold for Wnt/PCP signaling and explores how dysregulation of these processes contributes to human diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Caihong Wang, Kai Qu, Jing Wang, Rui Qin, Bingyi Li, Juhui Qiu, Guixue Wang
Summary: This article mainly introduces the mechanism of cell polarity in endothelial cells and related diseases, pointing out the regulatory role of biomechanical forces on endothelial cell polarity, providing new ideas for the treatment of PCP-related diseases in endothelial cells.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Cell Biology
Lena P. Basta, Parijat Sil, Rebecca A. Jones, Katherine A. Little, Gabriela Hayward-Lara, Danelle Devenport
Summary: Cadherin EGF LAG seven-pass G-type receptor (Celsr) proteins 1-3 play important roles in cell polarity, axon pathfinding, and ciliogenesis. Specifically, Celsr1 is crucial for planar cell polarity (PCP) in the skin, while the contribution of Celsr2 has not been explored. In this study, knockout mouse models were used to investigate the roles of Celsr1 and Celsr2 in PCP establishment. The findings indicate that Celsr1 is the main protein involved in epidermal PCP, while Celsr2 has minimal effects. Differences in adhesive interactions may contribute to the differential involvement of Celsr1 and Celsr2 in epidermal PCP.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-ichi Nagata
Summary: In this study, a novel RAC3 variant (p.F28S) was identified to play a critical role in brain development, leading to morphological and functional defects in cortical neurons, likely due to hyperactivation of PAK1.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Genetics & Heredity
Letteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, Mario Capasso, Valeria Capra, Alberto Garaventa, Mohamad Maghnie, Silvana Briuglia, Malgorzata Gabriela Wasniewska
Summary: Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a clinical entity characterized by features of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS). This article reports a case of a young Caucasian girl with severe short stature and a previous history of neuroblastoma, who displayed the compound phenotype of OI/EDS.
Article
Pediatrics
Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino
Summary: This article reports on a boy with a peculiar clinic-radiological pattern supporting the diagnosis of WOREE syndrome. Genetic testing revealed pathogenic variants in the WWOX gene and a deletion mutation. The study highlights the possibility of technical pitfalls in targeted next generation sequencing-based testing and the need for further investigation in selected cases with high clinical suspicion.
FRONTIERS IN PEDIATRICS
(2022)
Letter
Clinical Neurology
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale Striano
Article
Clinical Neurology
Ana Filipa Geraldo, Cesar Augusto P. F. Alves, Aysha Luis, Domenico Tortora, Joana Guimaraes, Daisy Abreu, Sofia Reimao, Marco Pavanello, Patrizia de Marco, Marcello Scala, Valeria Capra, Rui Vaz, Andrea Rossi, Erin Simon Schwartz, Kshitij Mankad, Mariasavina Severino
Summary: This study investigates the neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. It reveals that the incidence and risk factors of symptomatic hemorrhage in children with FCCM are comparable to those in adults. Imaging features at the first brain MRI may help predict future symptomatic hemorrhage.
Article
Clinical Neurology
Gelsomina Aruta, Pietro Fiaschi, Marco Ceraudo, Gianluca Piatelli, Valeria Capra, Andrea Bianconi, Andrea Rossi, Francesca Secci, Marco Pavanello
Summary: This article examines the association between multisutural craniosynostosis with Chiari malformation (CM), venous hypertension, and hydrocephalus, and proposes a simple and effective therapeutic flow-chart for managing these rare pathologies.
PEDIATRIC NEUROSURGERY
(2023)
Article
Biochemistry & Molecular Biology
Simona Amenta, Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella, Marcello Scala, Ferruccio Romano, Valeria Capra, Vincenzo Nigro, Marcella Zollino
Summary: Loss-of-function variants in CHAMP1 cause intellectual disability, autism, and distinctive facial characteristics, possibly through haploinsufficiency or a dominant negative effect. In addition, a deletion and a missense variant in CHAMP1 are associated with borderline neurodevelopmental impairment and refractory seizures, respectively. This study suggests that loss-of-function variants in CHAMP1 lead to a severe phenotype, while haploinsufficiency may result in milder impairment and missense variants are associated with severe epileptic encephalopathy.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello, Stefano Gustincich, Pasquale Striano, Federico Zara, Valeria Capra
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Rute Luisa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Summary: This article describes a pediatric patient from Italy with Joubert Syndrome who carries a novel missense and deletion variant in the CC2D2A gene, identified through whole exome sequencing.
Article
Oncology
Marzia Ognibene, Patrizia De Marco, Loredana Amoroso, Davide Cangelosi, Federico Zara, Stefano Parodi, Annalisa Pezzolo
Summary: Neuroblastoma (NB), a tumor affecting the peripheral sympathetic nervous system, has unknown mechanisms determining its progression. This study found that loss of chromosome 10q is associated with poor prognosis in NB patients. Additionally, it identified a cluster of 75 deleted genes, including CCSER2, whose low expression is correlated with worse survival.
Article
Oncology
Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso, Sara Guerrisi, Marco Di Duca, Francesco Caroli, Simona Baldassari, Barbara Tappino, Ferruccio Romano, Paolo Uva, Diego Vozzi, Cristina Chelleri, Gianluca Piatelli, Maria Cristina Diana, Federico Zara, Valeria Capra, Marco Pavanello, Patrizia De Marco
Summary: In this study, rare variants of the RNF213 gene were investigated as potential genetic modifiers of Moyamoya syndrome (MMS) phenotype in a pediatric cohort of patients. Next-generation sequencing revealed that RNF213 does not modify the risk of Moyamoya occurrence in MMS patients. Instead, the loss of neurofibromin 1, encoded by the NF1 gene, is likely responsible for the excessive proliferation of vascular smooth muscle cells leading to arterial stenosis. Further studies are needed to confirm these findings and identify other genetic factors in MMS pathogenesis.
Article
Clinical Neurology
Marco Pavanello, Anna Ronchetti, Ida Barretta, Paolo Moretti, Gianluca Piatelli
Summary: This retrospective cohort study analyzed the complications of intrathecal baclofen therapy (ITB) in 40 patients and found that 8 patients experienced complications, including the rare complication of calcification of the baclofen pump pouch and surrounding tissue. The study suggests that calcification may be related to microtrauma or needlestick injury and the duration of pump placement.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Biochemistry & Molecular Biology
Marzia Ognibene, Patrizia De Marco, Loredana Amoroso, Martina Fragola, Federico Zara, Stefano Parodi, Annalisa Pezzolo
Summary: Chromosomal instability (CIN) is a hallmark of most human cancers and can lead to losses or gains of chromosomes. This study evaluated the prognostic role of CIN in NB patients at diagnosis and found that high CIN values are negatively associated with survival of NB patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)