Review
Biochemistry & Molecular Biology
Christine K. C. Loo, Michael A. Pearen, Grant A. Ramm
Summary: The Hedgehog (HH) signalling pathway is crucial in controlling cell differentiation and proliferation during human development. The Sonic Hedgehog (SHH) pathway is complex and influenced by various factors, leading to different outcomes even with the same genetic mutations. The understanding of SHH signalling in human development can be further enhanced through studying specific examples and exploring the implications of SHH mutations in different disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attie-Bitach, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Alan J. Burns
Summary: The study revealed the important role of TALPID3 in GI and ENS development, with its absence leading to abnormal GI tract development in chicken embryos. ENS formation was found not to depend on TALPID3 but on environmental cues. The presence of KIAA0586 mutation in human fetal tissues showed similar findings to animal models, highlighting the essential role of TALPID3 in human GI tract development and patterning.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Review
Neurosciences
Abraham Andreu-Cervera, Martin Catala, Sylvie Schneider-Maunoury
Summary: Development of the forebrain heavily relies on the Sonic Hedgehog (Shh) signaling pathway and functional primary cilia. Dysfunction of cilia may lead to ciliopathies, affecting multiple organs and potentially causing forebrain malformations. Therefore, further research is needed to investigate the relationship between forebrain defects in ciliopathies and the disruption of the Shh pathway.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Genetics & Heredity
Aren K. Marshall, Stella MacDonald, Yijing Liang, Madeline M. Couse, Kym D. Boycott, Julie Richer, Kristin Kernohan
Summary: RNA sequencing can be used to interpret genetic variants that are difficult to interpret and provide diagnosis for patients with rare diseases. This study identified a splice site variant in the DYNC2H1 gene through RNA-Seq, which is associated with short-rib thoracic dysplasia 3.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Zoology
Zhi-Lin Ren, Hou-Bin Zhang, Lin Li, Zheng-Lin Yang, Li Jiang
Summary: This study generated two knock-in mouse models of SDCCAG8-associated retinal ciliopathies using CRISPR/Cas9-mediated homology-directed recombination and successfully recapitulated the BBS phenotypes. They also discovered that SDCCAG8 plays an essential role in ciliogenesis and cilium defects are a primary driving force of SDCCAG8-associated retinal ciliopathies.
ZOOLOGICAL RESEARCH
(2022)
Article
Oncology
Vishal Singh Guleria, Rahul Parit, Neha Quadri, Ranajit Das, Priyanka Upadhyai
Summary: By studying the experiments in mice and fruit flies, we found that IFT52 plays an important role in ciliogenesis and osteoblast differentiation. Its deficiency can lead to skeletal deformities and neurological defects.
EXPERIMENTAL CELL RESEARCH
(2022)
Article
Oncology
Vishal Singh Guleria, Rahul Parit, Neha Quadri, Ranajit Das, Priyanka Upadhyai
Summary: The study reveals that IFT52 plays a crucial role in osteoblast differentiation by disrupting primary ciliogenesis and blocking osteogenic differentiation, and affecting the regulation of the Hh signaling pathway. Additionally, in Drosophila, knockdown of IFT52 results in reduced lifespan, loss of chordotonal cilia, and severe defects in locomotion, auditory, and proprioception functions.
EXPERIMENTAL CELL RESEARCH
(2022)
Article
Oncology
Chun-Ling Xia, Shi-Qi Xiao, Xue Yang, Cai-Xia Liu, Hao Qiu, Hong-Kun Jiang, Jesse Li-Ling, Yuan Lyu
Summary: Short rib-polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder characterized by polydactyly and multi-system organ abnormalities. This study identified typical radiological features and novel genetic variants in patients with SRPS3 through X-rays, staining, and genetic sequencing.
MOLECULAR MEDICINE REPORTS
(2021)
Article
Genetics & Heredity
Yuying Fang, Shuo Li, Dongyi Yu
Summary: This study aimed to analyze the genetic variation of the DYNC2H1 gene in four Chinese families affected with SRTD3, providing evidence for accurate prenatal diagnosis and genetic counseling. Whole exome sequencing was conducted to identify the causative variants, and bioinformation analysis was used to predict their harmfulness and perform protein-protein interaction network analysis.
FRONTIERS IN GENETICS
(2023)
Article
Developmental Biology
Megan G. Davey, Matthew Towers, Neil Vargesson, Cheryll Tickle
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
(2018)
Article
Orthopedics
Wee L. Lam, Julia D. H. Oh, Edward J. Johnson, Sandra Poyatos Pertinez, Chloe Stephens, Megan G. Davey
JOURNAL OF HAND SURGERY-EUROPEAN VOLUME
(2019)
Article
Biochemistry & Molecular Biology
William K. W. Ho, Lucy Freem, Debiao Zhao, Kevin J. Painter, Thomas E. Woolley, Eamonn A. Gaffney, Michael J. McGrew, Athanasia Tzika, Michel C. Milinkovitch, Pascal Schneider, Armin Drusko, Franziska Matthaeus, James D. Glover, Kirsty L. Wells, Jeanette A. Johansson, Megan G. Davey, Helen M. Sang, Michael Clinton, Denis J. Headon
Review
Cell Biology
Amy M. Fraser, Megan G. Davey
CURRENT OPINION IN GENETICS & DEVELOPMENT
(2019)
Article
Biochemistry & Molecular Biology
Katherine A. Staines, Mark Hopkinson, Scott Dillon, Louise A. Stephen, Robert Fleming, Antonia Sophocleous, David J. Buttle, Andrew A. Pitsillides, Colin Farquharson
BIOSCIENCE REPORTS
(2020)
Article
Multidisciplinary Sciences
Anirudh Patir, Amy M. Fraser, Mark W. Barnett, Lynn McTeir, Joe Rainger, Megan G. Davey, Tom C. Freeman
SCIENTIFIC REPORTS
(2020)
Review
Biochemistry & Molecular Biology
Masahiro Horita, Colin Farquharson, Louise A. Stephen
Summary: This review summarizes the differential expression patterns and functional roles of the miR-29 family in diseases such as osteoarthritis, osteoporosis, cardiorenal, and immune disease, highlighting their therapeutic potential. Further research is needed to identify the precise mechanisms of the miR-29 family in these diseases and their potential in therapeutics.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2021)
Article
Neurosciences
Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attie-Bitach, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Alan J. Burns
Summary: The study revealed the important role of TALPID3 in GI and ENS development, with its absence leading to abnormal GI tract development in chicken embryos. ENS formation was found not to depend on TALPID3 but on environmental cues. The presence of KIAA0586 mutation in human fetal tissues showed similar findings to animal models, highlighting the essential role of TALPID3 in human GI tract development and patterning.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Correction
Neurosciences
Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attie-Bitach, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Alan J. Burns
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Endocrinology & Metabolism
Shun-Neng Hsu, Louise A. Stephen, Scott Dillon, Elspeth Milne, Behzad Javaheri, Andrew A. Pitsillides, Amanda Novak, Jose Luis Millan, Vicky E. MacRae, Katherine A. Staines, Colin Farquharson
Summary: This study found that in mice with advanced CKD, bone density increased in cortical bone but decreased in trabecular bone. TNAP expression was decreased while PHOSPHO1 expression was increased in CKD bones. In P1KO CKD mice, cortical BMD was restored and other structural parameters improved. In vitro experiments showed that hyperphosphatemia and/or hyperparathyroidism downregulated TNAP and PHOSPHO1 expressions.
JOURNAL OF ENDOCRINOLOGY
(2022)
Editorial Material
Orthopedics
Wee Lam, Julia Oh, Megan G. Davey
JOURNAL OF HAND SURGERY-EUROPEAN VOLUME
(2022)
Article
Biochemistry & Molecular Biology
Dean A. Houston, Louise A. Stephen, Soher N. Jayash, Katherine Myers, Kirsty Little, Mark Hopkinson, Andrew A. Pitsillides, Vicky E. MacRae, Jose Luis Millan, Katherine A. Staines, Colin Farquharson
Summary: The administration of intermittent parathyroid hormone (iPTH) can enhance bone mineralization and osteogenesis by regulating the expression of key enzymes such as PHOSPHO1.
CELL BIOCHEMISTRY AND FUNCTION
(2023)
Article
Biology
Jenaid M. Rees, Victoria A. Sleight, Stephen J. Clark, Tetsuya Nakamura, J. Andrew Gillis, Megan G. Davey
Summary: The anterior-posterior polarity in the gill skeleton of cartilaginous fishes is regulated by the interaction between Wnt and Shh signaling. Wnt signaling restricts the formation of posterior branchial ray cartilages by inhibiting Shh signal transduction, determining the distribution of gill arches. This study highlights the importance of signaling interactions at embryonic tissue boundaries for cell fate determination in vertebrate pharyngeal arches.
Article
Biochemistry & Molecular Biology
Masahiro Horita, Shun-Neng Hsu, Anna Raper, Colin Farquharson, Louise A. Stephen
Summary: The study found that miR-29b-3p plays an inhibitory role in the downregulation induced by TGF-beta 1, thereby affecting the cell cycle distribution of murine articular chondrocytes, suggesting that miR-29b-3p may contribute to reduced chondrocyte proliferation in OA.
BIOCHEMISTRY AND BIOPHYSICS REPORTS
(2022)
Article
Endocrinology & Metabolism
Scott Dillon, Karla Suchacki, Shun-Neng Hsu, Louise A. Stephen, Rongling Wang, William P. Cawthorn, Alan J. Stewart, Fabio Nudelman, Nicholas M. Morton, Colin Farquharson
Summary: This study characterized the skeletal phenotype of Enpp6(-/-) mice for the first time, revealing transient hypomineralization in young animals compared with WT controls. The data suggest that ENPP6 is important for bone mineralization and may function upstream of PHOSPHO1 as a novel means of generating its substrates inside matrix vesicles.