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1. ZIC2 in Holoprosencephaly

Author

Barratt, Kristen S., Arkell, Ruth M., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, and Aruga, Jun, editor

Published
2018
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2. Overview of Rodent Zic Genes

Author

Diamand, Koula E. M., Barratt, Kristen S., Arkell, Ruth M., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, and Aruga, Jun, editor

Published
2018
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9. WNT-responsive SUMOylation of ZIC5 promotes murine neural crest cell development, having multiple effects on transcription.

Author

Ali, Radiya G., Bellchambers, Helen M., Warr, Nicholas, Ahmed, Jehangir N., Barratt, Kristen S., Neill, Kieran, Diamand, Koula E. M., and Arkell, Ruth M.

Subjects
NEURAL crest, ZINC-finger proteins, CELL differentiation, TRANSCRIPTION factors, CARRIER proteins, CATENINS, WNT signal transduction
Abstract

Zinc finger of the cerebellum (Zic) proteins act as classic transcription factors to promote transcription of the Foxd3 gene during neural crest cell specification. Additionally, they can act as co-factors that bind proteins from the T-cell factor/lymphoid enhancing factor (TCF/LEF) family (TCFs) to repress WNT-ß-catenin-dependent transcription without contacting DNA. Here, we show that ZIC activity at the neural plate border is influenced by WNT-dependent SUMOylation. In the presence of high canonical WNT activity, a lysine residue within the highly conserved zinc finger N-terminally conserved (ZF-NC) domain of ZIC5 is SUMOylated, which reduces formation of the ZIC-TCF co-repressor complex and shifts the balance towards transcription factor function. The modification is crucial in vivo, as a ZIC5 SUMOincompetent mouse strain exhibits neural crest specification defects. This work reveals the function of the ZF-NC domain within ZIC, provides in vivo validation of target protein SUMOylation and demonstrates that WNT-ß-catenin signalling directs transcription at non-TCF DNA-binding sites. Furthermore, it can explain how WNT signals convert a broad region of Zic ectodermal expression into a restricted region of neural crest cell specification. [ABSTRACT FROM AUTHOR]

Published
2022
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10. Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Author

Dinh, Tra Thi Huong, primary, Iseki, Hiroyoshi, additional, Mizuno, Seiya, additional, Iijima-Mizuno, Saori, additional, Tanimoto, Yoko, additional, Daitoku, Yoko, additional, Kato, Kanako, additional, Hamada, Yuko, additional, Hasan, Ammar Shaker Hamed, additional, Suzuki, Hayate, additional, Murata, Kazuya, additional, Muratani, Masafumi, additional, Ema, Masatsugu, additional, Kim, Jun-Dal, additional, Ishida, Junji, additional, Fukamizu, Akiyoshi, additional, Kato, Mitsuyasu, additional, Takahashi, Satoru, additional, Yagami, Ken-ichi, additional, Wilson, Valerie, additional, Arkell, Ruth M, additional, and Sugiyama, Fumihiro, additional

Published
2021
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12. Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Author

Dinh, Tra Thi Huong, Iseki, Hiroyoshi, Mizuno, Seiya, Iijima-Mizuno, Saori, Tanimoto, Yoko, Daitoku, Yoko, Kato, Kanako, Hamada, Yuko, Hasan, Ammar Shaker Hamed, Suzuki, Hayate, Arkell, Ruth, Dinh, Tra Thi Huong, Iseki, Hiroyoshi, Mizuno, Seiya, Iijima-Mizuno, Saori, Tanimoto, Yoko, Daitoku, Yoko, Kato, Kanako, Hamada, Yuko, Hasan, Ammar Shaker Hamed, Suzuki, Hayate, and Arkell, Ruth

Abstract

In vivo function of CDK5 and Abl enzyme substrate 2 (Cables2), belonging to the Cables protein family, is unknown. Here, we found that targeted disruption of the entire Cables2 locus (Cables2d) caused growth retardation and enhanced apoptosis at the gastrulation stage and then induced embryonic lethality in mice. Comparative transcriptome analysis revealed disruption of Cables2, 50% down-regulation of Rps21 abutting on the Cables2 locus, and up-regulation of p53-target genes in Cables2d gastrulas. We further revealed the lethality phenotype in Rps21-deleted mice and unexpectedly, the exon 1-deleted Cables2 mice survived. Interestingly, chimeric mice derived from Cables2d ESCs carrying exogenous Cables2 and tetraploid wild-type embryo overcame gastrulation. These results suggest that the diminished expression of Rps21 and the completed lack of Cables2 expression are intricately involved in the embryonic lethality via the p53 pathway. This study sheds light on the importance of Cables2 locus in mouse embryonic development.

Published
2021

13. Author response: Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

Author

Dinh, Tra Thi Huong, primary, Iseki, Hiroyoshi, additional, Mizuno, Seiya, additional, Iijima-Mizuno, Saori, additional, Tanimoto, Yoko, additional, Daitoku, Yoko, additional, Kato, Kanako, additional, Hamada, Yuko, additional, Hasan, Ammar Shaker Hamed, additional, Suzuki, Hayate, additional, Murata, Kazuya, additional, Muratani, Masafumi, additional, Ema, Masatsugu, additional, Kim, Jun-Dal, additional, Ishida, Junji, additional, Fukamizu, Akiyoshi, additional, Kato, Mitsuyasu, additional, Takahashi, Satoru, additional, Yagami, Ken-ichi, additional, Wilson, Valerie, additional, Arkell, Ruth M, additional, and Sugiyama, Fumihiro, additional

Published
2020
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15. Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Author

Easteal, Simon, primary, Arkell, Ruth M., additional, Balboa, Renzo F., additional, Bellingham, Shayne A., additional, Brown, Alex D., additional, Calma, Tom, additional, Cook, Matthew C., additional, Davis, Megan, additional, Dawkins, Hugh J.S., additional, Dinger, Marcel E., additional, Dobbie, Michael S., additional, Farlow, Ashley, additional, Gwynne, Kylie G., additional, Hermes, Azure, additional, Hoy, Wendy E., additional, Jenkins, Misty R., additional, Jiang, Simon H., additional, Kaplan, Warren, additional, Leslie, Stephen, additional, Llamas, Bastien, additional, Mann, Graham J., additional, McMorran, Brendan J., additional, McWhirter, Rebekah E., additional, Meldrum, Cliff J., additional, Nagaraj, Shivashankar H., additional, Newman, Saul J., additional, Nunn, Jack S., additional, Ormond-Parker, Lyndon, additional, Orr, Neil J., additional, Paliwal, Devashi, additional, Patel, Hardip R., additional, Pearson, Glenn, additional, Pratt, Greg R., additional, Rambaldini, Boe, additional, Russell, Lynette W., additional, Savarirayan, Ravi, additional, Silcocks, Matthew, additional, Skinner, John C., additional, Souilmi, Yassine, additional, Vinuesa, Carola G., additional, and Baynam, Gareth, additional

Published
2020
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18. Cables2 Is a Novel Smad2-Regulatory Factor Essential for Early Embryonic Development in Mice

Author

Dinh, Tra Thi Huong, primary, Iseki, Hiroyoshi, additional, Mizuno, Seiya, additional, Iijima-Mizuno, Saori, additional, Tanimoto, Yoko, additional, Daitoku, Yoko, additional, Kato, Kanako, additional, Hamada, Yuko, additional, Hasan, Ammar Shaker Hamed, additional, Suzuki, Hayate, additional, Murata, Kazuya, additional, Muratani, Masafumi, additional, Ema, Masatsugu, additional, Kim, Jun-dal, additional, Ishida, Junji, additional, Fukamizu, Akiyoshi, additional, Kato, Mitsuyasu, additional, Takahashi, Satoru, additional, Yagami, Ken-ichi, additional, Wilson, Valerie, additional, Arkell, Ruth M., additional, and Sugiyama, Fumihiro, additional

Published
2019
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20. Zic2 mutation causes Holoprosencephaly via disruption of NODAL signalling.

Author

Houtmeyers, Rob, Tchouate Gainkam, Lea Olive, Glanville-Jones, Hannah HA, Van den Bosch, Ben, Chappell, Anna, Barratt, Kristen KS, Souopgui, Jacob, Tejpar, Sabine, Arkell, Ruth, Houtmeyers, Rob, Tchouate Gainkam, Lea Olive, Glanville-Jones, Hannah HA, Van den Bosch, Ben, Chappell, Anna, Barratt, Kristen KS, Souopgui, Jacob, Tejpar, Sabine, and Arkell, Ruth

Abstract

The ZIC2 transcription factor is one of the genes most commonly mutated in Holoprosencephaly (HPE) probands. Studies in cultured cell lines and mice have shown loss of ZIC2 function is the pathogenic mechanism but the molecular details of this ZIC2 requirement remain elusive. HPE arises when signals that direct morphological and fate changes in the developing brain and facial primordia are not sent or received. One critical signal is sent from the prechordal plate (PrCP) which develops beneath the ventral forebrain. An intact NODAL signal transduction pathway and functional ZIC2 are both required for PrCP establishment. We now show that ZIC2 acts downstream of the NODAL signal during PrCP development. ZIC2 physically interacts with SMAD2 and SMAD3, the receptor activated proteins that control transcription in a NODAL dependent manner. Together SMAD3 and ZIC2 regulate FOXA2 transcription in cultured cells and Zic2 also controls foxA2 expression during Xenopus development. Variant forms of the ZIC2 protein, associated with HPE in man or mouse, are deficient in their ability to influence SMAD-dependent transcription. These findings reveal a new mechanism of NODAL signal transduction in the mammalian node and provide the first molecular explanation of how ZIC2 loss-of-function precipitates HPE., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

22. Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes

Author

Watkins-Chow, Dawn E., primary, Cooke, Joanna, additional, Pidsley, Ruth, additional, Edwards, Andrew, additional, Slotkin, Rebecca, additional, Leeds, Karen E., additional, Mullen, Raymond, additional, Baxter, Laura L., additional, Campbell, Thomas G., additional, Salzer, Marion C., additional, Biondini, Laura, additional, Gibney, Gretchen, additional, Tuy, Françoise Phan Dinh, additional, Chelly, Jamel, additional, Morris, H. Douglas, additional, Riegler, Johannes, additional, Lythgoe, Mark F., additional, Arkell, Ruth M., additional, Loreni, Fabrizio, additional, Flint, Jonathan, additional, Pavan, William J., additional, and Keays, David A., additional

Published
2015
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23. Fibroblast-specific upregulation of Flightless I impairs wound healing

Author

Christopher T. Turner, James M. Waters, Allison J. Cowin, Ruth M. Arkell, Jessica E. Jackson, Turner, Christopher T, Waters, James M, Jackson, Jessica E, Arkell, Ruth M, and Cowin, Allison J

Subjects
Antineoplastic Agents, Hormonal, wound, Gene Expression, Inflammation, Dermatology, Biology, Biochemistry, fibroblast, Mice, Downregulation and upregulation, Cell Movement, Gene expression, medicine, Animals, Fibroblast, Cytoskeleton, Molecular Biology, Cells, Cultured, Cell Proliferation, Skin, flightless I, Recombination, Genetic, Wound Healing, Microfilament Proteins, cytoskeleton, Fibroblasts, Cell biology, Up-Regulation, Cytoskeletal Proteins, Tamoxifen, medicine.anatomical_structure, Cytoplasm, Immunology, Models, Animal, Trans-Activators, Collagen, medicine.symptom, Wound healing, Carrier Proteins, Myofibroblast
Abstract

The cytoskeletal protein Flightless (Flii) is a negative regulator of wound healing. Upregulation of Flii is associated with impaired migration, proliferation and adhesion of both fibroblasts and keratinocytes. Importantly, Flii translocates from the cytoplasm to the nucleus in response to wounding in fibroblasts but not keratinocytes. This cell-specific nuclear translocation of Flii suggests that Flii may directly regulate gene expression in fibroblasts, providing one potential mechanism of action for Flii in the wound healing response. To determine whether the tissue-specific upregulation of Flii in fibroblasts was important for the observed inhibitory effects of Flii on wound healing, an inducible fibroblast-specific Flii overexpressing mouse model was generated. The inducible ROSA26 system allowed the overexpression of Flii in a temporal and tissue-specific manner in response to tamoxifen treatment. Wound healing in the inducible mice was impaired, with wounds at day 7 postwounding significantly larger than those from non-inducible controls. There was also reduced collagen maturation, increased myofibroblast infiltration and elevated inflammation. The impaired healing response was similar in magnitude to that observed in mice with non-tissue-specific upregulation of Flii suggesting that fibroblast-derived Flii may have an important role in the wound healing response.

Published
2015

24. Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.

Author

Houtmeyers R, Tchouate Gainkam O, Glanville-Jones HA, Van den Bosch B, Chappell A, Barratt KS, Souopgui J, Tejpar S, and Arkell RM

Subjects
Animals, Forkhead Transcription Factors biosynthesis, Forkhead Transcription Factors genetics, Gene Expression Regulation, Developmental, Hepatocyte Nuclear Factor 3-beta biosynthesis, Holoprosencephaly physiopathology, Humans, Male, Mice, Mutation, Nodal Protein metabolism, Signal Transduction genetics, Smad2 Protein genetics, Smad3 Protein genetics, Xenopus laevis growth & development, Hepatocyte Nuclear Factor 3-beta genetics, Holoprosencephaly genetics, Nodal Protein genetics, Nuclear Proteins genetics, Transcription Factors genetics, Xenopus laevis genetics
Abstract

The ZIC2 transcription factor is one of the genes most commonly mutated in Holoprosencephaly (HPE) probands. Studies in cultured cell lines and mice have shown a loss of ZIC2 function is the pathogenic mechanism but the molecular details of this ZIC2 requirement remain elusive. HPE arises when signals that direct morphological and fate changes in the developing brain and facial primordia are not sent or received. One critical signal is sent from the prechordal plate (PrCP) which develops beneath the ventral forebrain. An intact NODAL signal transduction pathway and functional ZIC2 are both required for PrCP establishment. We now show that ZIC2 acts downstream of the NODAL signal during PrCP development. ZIC2 physically interacts with SMAD2 and SMAD3, the receptor activated proteins that control transcription in a NODAL dependent manner. Together SMAD3 and ZIC2 regulate FOXA2 transcription in cultured cells and Zic2 also controls the foxA2 expression during Xenopus development. Variant forms of the ZIC2 protein, associated with HPE in man or mouse, are deficient in their ability to influence SMAD-dependent transcription. These findings reveal a new mechanism of NODAL signal transduction in the mammalian node and provide the first molecular explanation of how ZIC2 loss-of-function precipitates HPE., (© The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Published
2016
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