Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length

Autor: Maciej Kliszczak, Daniela Moralli, Julia D. Jankowska, Paulina Bryjka, Lamia Subha Meem, Tomas Goncalves, Svenja S. Hester, Roman Fisher, David Clynes, Catherine M. Green

Hereditary fibrosing poikiloderma (HFP) is a rare human dominant negative disorder caused by mutations in theFAM111Bgene that encodes a nuclear trypsin-like serine protease. HFP patients present with symptoms including skin abnormalities, tendon cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3d68b51c6145c4432645367268f6fef5
https://doi.org/10.1101/2023.01.22.525054

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

Synthesis of isocyanide derivatives of α-aminoalkylphosphonate diphenyl esters

Autor: Maciej Kliszczak, Marcin Sieńczyk, Józef Oleksyszyn

Publikováno v: Tetrahedron Letters. 47:4209-4211

This letter describes the first example of the synthesis of isocyanide derivatives of α-aminoalkylphosphonate diphenyl esters. This method produces the title compounds in high purity and in very good yields. It also permits the generation of an α-a

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https://doi.org/10.1016/j.tetlet.2006.04.058

Roles of vertebrate smc5 in sister chromatid cohesion and homologous recombinational repair

Autor: Maciej Kliszczak, Carol Cooley, Helen Dodson, Ciaran G. Morrison, Anna K. Stephan

The structural maintenance of chromosomes (Smc) family members Smc5 and Smc6 are both essential in budding and fission yeasts. Yeast smc5/6 mutants are hypersensitive to DNA damage, and Smc5/6 is recruited to HO-induced double-strand breaks (DSBs), f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f472302c1b47a013d5730bc34db1039
http://hdl.handle.net/10379/14011