TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

Autor: Alain Czorny, M. Valduga, Virginie Roze, Aimee L. Fenwick, Andrew O.M. Wilkie, Juliette Piard, Lionel Van Maldergem, Marion Lenoir

Publikováno v: American Journal of Medical Genetics. Part a

Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82477dffff7c0b274e769b167ccdb328
https://doi.org/10.1002/ajmg.a.37083

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Autor: Kerry A. Miller, Gijs W. E. Santen, Anne Goriely, Alice Gardham, Andrew O.M. Wilkie, Clare V. Logan, Maciej Kliszczak, Deepthi De Silva, Ravi Savarirayan, Donna M. McDonald-McGinn, Stephen R.F. Twigg, Olivier Vanakker, Chris P. Ponting, Louise S. Bicknell, Sumita Danda, Wojciech Niedzwiedz, Elaine H. Zackai, Ozge Ozalp Yuregir, Solaf M. Elsayed, Ezzat Elsobky, Jennie E. Murray, Fay Cooper, Mariëtte J.V. Hoffer, Louise C. Wilson, Andrew P. Jackson, Marije Koopmans, Simon J. McGowan, Luis Sanchez-Pulido, Sevcan Tug Bozdogan, Aimee L. Fenwick, Indira B. Taylor, Steven A. Wall, Joanne Dixon

Publikováno v: Fenwick, A L, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, S R F, Goriely, A, McGowan, S J, Miller, K A, Taylor, I B, Logan, C, Bozdogan, S, Danda, S, Dixon, J, Elsayed, S M, Elsobky, E, Gardham, A, Hoffer, M J V, Koopmans, M, McDonald-McGinn, D M, Santen, G W E, Savarirayan, R, de Silva, D, Vanakker, O, Wall, S A, Wilson, L C, Yuregir, O O, Zackai, E H, Ponting, C P, Jackson, A P, Wilkie, A O M & Niedzwiedz, W & Bicknell, L S 2016, ' Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis ', American Journal of Human Genetics, vol. 99, no. 1, pp. 125-38 . https://doi.org/10.1016/j.ajhg.2016.05.019
American Journal of Human Genetics, 99(1), 125-138

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder def

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5622fb24b6288cd366c414ea4a24361c
https://www.pure.ed.ac.uk/ws/files/27023217/Mutations_in_CDC45_Encoding_an_Essential_Component_of_the_Pre_Initiation_Complex_accepted_version.pdf

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Autor: Louise C. Wilson, George Mavrothalassitis, Shehla Mohammed, Alain Verloes, Louise Izatt, Peter Hammond, Jim R. Hughes, Maryline Allegra, Stephen S. Taylor, Ioanna Peraki, Samantha J. L. Knight, Simon J. McGowan, Aimee L. Fenwick, Vikram P Sharma, Andreas Zaragkoulias, Elham Sadighi Akha, Elena Vorgia, Stephen R.F. Twigg, Fiona Stewart, Andrew O.M. Wilkie, Tracy Lester, Anne K. Lampe, Chris Healy, Helen Lord, Steven A. Wall, David W. Johnson, Paul T. Sharpe

Publikováno v: Nature Genetics. 45(3)

The extracellular signal-related kinases 1 and 2 (ERK1/2) are key proteins mediating mitogen-activated protein kinase signaling downstream of RAS: phosphorylation of ERK1/2 leads to nuclear uptake and modulation of multiple targets. Here, we show tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c1cc42ec21125aaa130393a7e6bb61
http://ora.ox.ac.uk/objects/uuid:d689d1f1-5209-46cf-b335-9f3746fe5233

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Autor: Louise C. Wilson, Susan Tomkins, Richard J. Cornall, Wilkie Aom., Sally Ann Lynch, Vikram P Sharma, O Jeelani, Peter Donnelly, Steven A. Wall, David Johnson, Julie M. Phipps, Sophia C. Bennett, Alexander Kanapin, John B. Mulliken, Hoogeboom Ajm., P.J. van der Spek, Goos Jac., Elizabeth Sweeney, Simon J. McGowan, Angela F. Brady, Mathijssen Imj., Aimee L. Fenwick, Dylan J. Murray, John Broxholme, Robert E. Maxson, Twigg Srf., M S Brockop

Publikováno v: The Lancet. 381:S114

Background Craniosynostosis, the premature fusion of the cranial sutures, is the second most common craniofacial malformation. A genetic aetiology can be identified in about 21% of cases, including mutations of TWIST1 that cause Saethre-Chotzen syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1d89ae9b1ed09f5eb913229a132e92dc
https://doi.org/10.1016/s0140-6736(13)60554-1

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Autor: Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M.

Publikováno v: American Journal of Medical Genetics. Part A; Apr2019, Vol. 179 Issue 4, p615-627, 13p