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1.

Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay.

Park, So Hae; Bennett-Baker, Pamela; Ahmed, Samreen; Arlt, Martin F; Ljungman, Mats; Glover, Thomas W; Wilson, Thomas E.

Nucleic Acids Res; 49(13): 7507-7524, 2021 07 21.

Artículo en Inglés | MEDLINE | ID: mdl-34181717

2.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel, Davor; Ozel, Ayse Bilge; Campbell, Susan E; Saadi, Abdelkrim; Arlt, Martin F; McSweeney, Keisha Melodi; Plaiasu, Vasilica; Szakszon, Katalin; Szollos, Anna; Rusu, Cristina; Rojas, Armando J; Lopez-Valdez, Jaime; Thiele, Holger; Nürnberg, Peter; Nickerson, Deborah A; Bamshad, Michael J; Li, Jun Z; Kubisch, Christian; Glover, Thomas W; Gordon, Leslie B.

Hum Genet; 137(11-12): 921-939, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-30450527

3.

Large transcription units unify copy number variants and common fragile sites arising under replication stress.

Wilson, Thomas E; Arlt, Martin F; Park, So Hae; Rajendran, Sountharia; Paulsen, Michelle; Ljungman, Mats; Glover, Thomas W.

Genome Res; 25(2): 189-200, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25373142

4.

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.

Bar, Daniel Z; Arlt, Martin F; Brazier, Joan F; Norris, Wendy E; Campbell, Susan E; Chines, Peter; Larrieu, Delphine; Jackson, Stephen P; Collins, Francis S; Glover, Thomas W; Gordon, Leslie B.

J Med Genet; 54(3): 212-216, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27920058

5.

Molecular biology: Breaks in the brain.

Glover, Thomas W; Wilson, Thomas E.

Nature; 532(7597): 46-7, 2016 Apr 07.

Artículo en Inglés | MEDLINE | ID: mdl-27007850

6.

The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability.

Mason, Jennifer M; Das, Ishita; Arlt, Martin; Patel, Neil; Kraftson, Stephanie; Glover, Thomas W; Sekiguchi, JoAnn M.

Hum Mol Genet; 22(24): 4901-13, 2013 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-23863462

7.

De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.

Arlt, Martin F; Rajendran, Sountharia; Birkeland, Shanda R; Wilson, Thomas E; Glover, Thomas W.

PLoS Genet; 8(9): e1002981, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23028374

8.

Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma.

Lin, Lin; Bass, Adam J; Lockwood, William W; Wang, Zhuwen; Silvers, Amy L; Thomas, Dafydd G; Chang, Andrew C; Lin, Jules; Orringer, Mark B; Li, Weiquan; Glover, Thomas W; Giordano, Thomas J; Lam, Wan L; Meyerson, Matthew; Beer, David G.

Proc Natl Acad Sci U S A; 109(11): 4251-6, 2012 Mar 13.

Artículo en Inglés | MEDLINE | ID: mdl-22375031

9.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi, Irfan; Alkuraya, Fowzan S; Gisselbrecht, Stephen S; Goessling, Wolfram; Cavallesco, Resy; Turbe-Doan, Annick; Petrin, Aline L; Harris, James; Siddiqui, Ursela; Grix, Arthur W; Hove, Hanne D; Leboulch, Philippe; Glover, Thomas W; Morton, Cynthia C; Richieri-Costa, Antonio; Murray, Jeffrey C; Erickson, Robert P; Maas, Richard L.

Am J Hum Genet; 89(1): 44-55, 2011 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-21703590

10.

REV1 and polymerase Î¶ facilitate homologous recombination repair.

Sharma, Shilpy; Hicks, J Kevin; Chute, Colleen L; Brennan, Julia R; Ahn, Joon-Young; Glover, Thomas W; Canman, Christine E.

Nucleic Acids Res; 40(2): 682-91, 2012 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-21926160

11.

Hydroxyurea induces de novo copy number variants in human cells.

Arlt, Martin F; Ozdemir, Alev Cagla; Birkeland, Shanda R; Wilson, Thomas E; Glover, Thomas W.

Proc Natl Acad Sci U S A; 108(42): 17360-5, 2011 Oct 18.

Artículo en Inglés | MEDLINE | ID: mdl-21987784

12.

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Quinonez, Shane C; Park, John M; Rabah, Raja; Owens, Kailey M; Yashar, Beverly M; Glover, Thomas W; Keegan, Catherine E.

Am J Med Genet A; 161A(8): 1882-96, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-23824832

13.

Harnessing genomics to identify environmental determinants of heritable disease.

Yauk, Carole Lyn; Lucas Argueso, J; Auerbach, Scott S; Awadalla, Philip; Davis, Sean R; DeMarini, David M; Douglas, George R; Dubrova, Yuri E; Elespuru, Rosalie K; Glover, Thomas W; Hales, Barbara F; Hurles, Matthew E; Klein, Catherine B; Lupski, James R; Manchester, David K; Marchetti, Francesco; Montpetit, Alexandre; Mulvihill, John J; Robaire, Bernard; Robbins, Wendie A; Rouleau, Guy A; Shaughnessy, Daniel T; Somers, Christopher M; Taylor, James G; Trasler, Jacquetta; Waters, Michael D; Wilson, Thomas E; Witt, Kristine L; Bishop, Jack B.

Mutat Res; 752(1): 6-9, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-22935230

14.

Applications of advanced technologies for detecting genomic structural variation.

Laufer, Vincent A; Glover, Thomas W; Wilson, Thomas E.

Mutat Res Rev Mutat Res; 792: 108475, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37931775

15.

svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing.

Wilson, Thomas E; Ahmed, Samreen; Higgins, Jake; Salk, Jesse J; Glover, Thomas W.

NAR Genom Bioinform; 5(2): lqad042, 2023 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-37181851

16.

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

Arlt, Martin F; Mulle, Jennifer G; Schaibley, Valerie M; Ragland, Ryan L; Durkin, Sandra G; Warren, Stephen T; Glover, Thomas W.

Am J Hum Genet; 84(3): 339-50, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19232554

17.

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Quinonez, Shane C; Hedera, Peter; Barr, Mason; Ackley, Todd; Lam, Cindy; Purkayastha, Anjali; Glover, Thomas W; Innis, Jeffrey W.

Am J Med Genet A; 158A(10): 2591-601, 2012 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-22903861

18.

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Butler, Matthew G; Dagenais, Susan L; Garcia-Perez, José L; Brouillard, Pascal; Vikkula, Miikka; Strouse, Peter; Innis, Jeffrey W; Glover, Thomas W.

Am J Med Genet A; 158A(4): 839-49, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22407726

19.

Replication stress induces tumor-like microdeletions in FHIT/FRA3B.

Durkin, Sandra G; Ragland, Ryan L; Arlt, Martin F; Mulle, Jennifer G; Warren, Stephen T; Glover, Thomas W.

Proc Natl Acad Sci U S A; 105(1): 246-51, 2008 Jan 08.

Artículo en Inglés | MEDLINE | ID: mdl-18162546

20.

Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif.

Howlett, Niall G; Harney, Julie A; Rego, Meghan A; Kolling, Frederick W; Glover, Thomas W.

J Biol Chem; 284(42): 28935-42, 2009 Oct 16.

Artículo en Inglés | MEDLINE | ID: mdl-19704162

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