Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Matthew A. M. Todd"'
Publikováno v:
European Journal of Human Genetics
Ribosomal RNA synthesis occurs in the nucleolus and is a tightly regulated process that is targeted in some developmental diseases and hyperactivated in multiple cancers. Subcellular localization and immunoprecipitation coupled mass spectrometry demo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3aa1f39bd7535e5caf818277e9766e
https://doi.org/10.1038/ejhg.2016.40
https://doi.org/10.1038/ejhg.2016.40
Publikováno v:
Genes, Vol 6, Iss 2, Pp 325-352 (2015)
Genes
Genes
The importance of chromatin regulation to human disease is highlighted by the growing number of mutations identified in genes encoding chromatin remodeling proteins. While such mutations were first identified in severe developmental disorders, or in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a213ff6bcf0bb41ca32bbdce2024527
https://doi.org/10.3390/genes6020325
https://doi.org/10.3390/genes6020325
Autor:
David J. Picketts, Matthew A. M. Todd
Publikováno v:
Journal of Proteome Research. 11:4326-4337
Mutations in PHF6 are the cause of Börjeson-Forssman-Lehman syndrome (BFLS), an X-linked intellectual disability (XLID) disorder, and both T-cell acute lymphoblastic leukemia (T-ALL) and acute myeloid leukemia (AML). The PHF6 gene encodes a protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7934590c4b59839836b3eb8ec7e24ca7
https://doi.org/10.1021/pr3004369
https://doi.org/10.1021/pr3004369
Publikováno v:
Physiology. 24:117-126
The heterogeneous nature of congenital hydrocephalus has hampered our understanding of the molecular basis of this common clinical problem. However, disease gene identification and characterization of multiple transgenic mouse models has highlighted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244f79ce4dad6995cd890adfdeb12e26
https://doi.org/10.1152/physiol.00039.2008
https://doi.org/10.1152/physiol.00039.2008
Autor:
Alan J. Mears, Ilya Ioshikhes, David J. Picketts, Romit Majumder, Valerie A. Wallace, Rashmi Kothary, Danton Ivanochko, Erin A. Bassett, Juraj Kokavec, Matías Alvarez-Saavedra, Arthur I. Skoultchi, Matthew A. M. Todd, Keqin Yan, Pamela S. Lagali, Michael S. Huh, Tomas Stopka, Nicholas Tokarew, Edupuganti V.S. Raghu Ram, Eran Meshorer, Doo Yang, Emile Hashem, Yves De Repentigny, Chelsea P. Corcoran
Publikováno v:
Nature Communications
Chromatin compaction mediates progenitor to post-mitotic cell transitions and modulates gene expression programs, yet the mechanisms are poorly defined. Snf2h and Snf2l are ATP-dependent chromatin remodelling proteins that assemble, reposition and sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca785274e2dfcbe0dca38a00aa522d1a
https://pubmed.ncbi.nlm.nih.gov/24946904
https://pubmed.ncbi.nlm.nih.gov/24946904
Autor:
Mwe Mwe Chao, David J. Picketts, Christian P. Kratz, Udo Kontny, Katherine Neas, Michael J. Sullivan, Matthew A. M. Todd, Alasdair G. W. Hunter
Publikováno v:
Pediatric Blood & Cancer. 55:722-724
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32f21e8a6591f134f9d9ea475a4d56cb
https://doi.org/10.1002/pbc.22574
https://doi.org/10.1002/pbc.22574
Autor:
Adriana De Maria, Paul Lavigne, David J. Picketts, Matthew A. M. Todd, Dominic Vallee, Maribeth A. Lazzaro
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 9, Iss 1, p 11 (2008)
BMC Medical Genetics, Vol 9, Iss 1, p 11 (2008)
Background Mutations in genes whose products modify chromatin structure have been recognized as a cause of X-linked mental retardation (XLMR). These genes encode proteins that regulate DNA methylation (MeCP2), modify histones (RSK2 and JARID1C), and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a45505b8e4610782ccadcf7d29cd38
https://doi.org/10.1186/1471-2350-9-11
https://doi.org/10.1186/1471-2350-9-11