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Your search keyword '"Griffith, Elen"' showing total 13 results
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13 results on '"Griffith, Elen"'

5. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Author

Griffith, Elen, primary, Walker, Sarah, additional, Martin, Carol-Anne, additional, Vagnarelli, Paola, additional, Stiff, Tom, additional, Vernay, Bertrand, additional, Sanna, Nouriya Al, additional, Saggar, Anand, additional, Hamel, Ben, additional, Earnshaw, William C, additional, Jeggo, Penny A, additional, Jackson, Andrew P, additional, and O'Driscoll, Mark, additional

Published
2007
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7. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Author

Crow, Yanick J, primary, Leitch, Andrea, additional, Hayward, Bruce E, additional, Garner, Anna, additional, Parmar, Rekha, additional, Griffith, Elen, additional, Ali, Manir, additional, Semple, Colin, additional, Aicardi, Jean, additional, Babul-Hirji, Riyana, additional, Baumann, Clarisse, additional, Baxter, Peter, additional, Bertini, Enrico, additional, Chandler, Kate E, additional, Chitayat, David, additional, Cau, Daniel, additional, Déry, Catherine, additional, Fazzi, Elisa, additional, Goizet, Cyril, additional, King, Mary D, additional, Klepper, Joerg, additional, Lacombe, Didier, additional, Lanzi, Giovanni, additional, Lyall, Hermione, additional, Martínez-Frías, María Luisa, additional, Mathieu, Michèle, additional, McKeown, Carole, additional, Monier, Anne, additional, Oade, Yvette, additional, Quarrell, Oliver W, additional, Rittey, Christopher D, additional, Rogers, R Curtis, additional, Sanchis, Amparo, additional, Stephenson, John B P, additional, Tacke, Uta, additional, Till, Marianne, additional, Tolmie, John L, additional, Tomlin, Pam, additional, Voit, Thomas, additional, Weschke, Bernhard, additional, Woods, C Geoffrey, additional, Lebon, Pierre, additional, Bonthron, David T, additional, Ponting, Chris P, additional, and Jackson, Andrew P, additional

Published
2006
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11. Using RNA Interference to Knock Down the Adhesion Protein TES.

Author

Walker, John M., Coutts, Amanda S., and Griffith, Elen

Abstract

RNA interference (RNAi) is a specific and efficient method to knock down protein levels using small interfering RNAs (siRNAs), which target mRNA degradation. RNAi can be used in mammalian cell culture systems to target any protein of interest, and several studies have used this method to knock down adhesion proteins. We used siRNAs to knock down the levels of TES, a focal adhesion protein, in HeLa cells. We demonstrated knockdown of both TES mRNA and TES protein. Although total knockdown of TES was not achieved, the observed reduction in TES protein was sufficient to result in a cellular phenotype of reduced actin stress fibers. [ABSTRACT FROM AUTHOR]

Published
2007
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12. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

Author

Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Sanna, Nouriya Al, Saggar, Anand, Hamel, Ben, Earnshaw, William C., Jeggo, Penny A., Jackson, Andrew P., and O'Driscoll, Mark

Subjects
*GENETIC mutation, *BIOCHEMICAL genetics, *DNA damage, *ENZYME induction, *GENETIC toxicology
Abstract

Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling. Only a single hypomorphic mutation of ATR has been identified in this genetically heterogeneous condition. We now report that mutations in the gene encoding pericentrin (PCNT)—resulting in the loss of pericentrin from the centrosome, where it has key functions anchoring both structural and regulatory proteins—also cause Seckel syndrome. Furthermore, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) have defects in ATR-dependent checkpoint signaling, providing the first evidence linking a structural centrosomal protein with DNA damage signaling. These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental pathways determining human brain and body size. [ABSTRACT FROM AUTHOR]

Published
2008
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13. TES is a novel focal adhesion protein with a role in cell spreading.

Author

Coutts, Amanda S., MacKenzie, Elaine, Griffith, Elen, and Black, Donald M.

Subjects
PROTEINS, CHROMOSOMES, TUMOR suppressor genes, FIBRONECTINS
Abstract

Examines the role of TES protein, a novel candidate tumor suppressor gene that mapped to human chromosomes 7q31. Ability of fibroblast to spread on fibronectin; Characterization of focal adhesion protein paxillin; Identification of several TES-interacting clones.

Published
2003
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