Byrd PJ - Search Results

1

The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.

Clements PM, Breslin C, Deeks ED, Byrd PJ, Ju L, Bieganowski P, Brenner C, Moreira MC, Taylor AM, Caldecott KW. Clements PM, et al. Among authors: byrd pj. DNA Repair (Amst). 2004 Nov 2;3(11):1493-502. doi: 10.1016/j.dnarep.2004.06.017. DNA Repair (Amst). 2004. PMID: 15380105

2

Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

Sutton IJ, Last JI, Ritchie SJ, Harrington HJ, Byrd PJ, Taylor AM. Sutton IJ, et al. Among authors: byrd pj. Ann Neurol. 2004 Jun;55(6):891-5. doi: 10.1002/ana.20139. Ann Neurol. 2004. PMID: 15174027

3

Atypical presentation of ataxia-oculomotor apraxia type 1.

Shahwan A, Byrd PJ, Taylor AM, Nestor T, Ryan S, King MD. Shahwan A, et al. Among authors: byrd pj. Dev Med Child Neurol. 2006 Jun;48(6):529-32. doi: 10.1017/S0012162206001113. Dev Med Child Neurol. 2006. PMID: 16700949 Free article.

4

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

Barone G, Groom A, Reiman A, Srinivasan V, Byrd PJ, Taylor AM. Barone G, et al. Among authors: byrd pj. Hum Mutat. 2009 Aug;30(8):1222-30. doi: 10.1002/humu.21034. Hum Mutat. 2009. PMID: 19431188

5

RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.

Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM. Stewart GS, et al. Among authors: byrd pj. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):16910-5. doi: 10.1073/pnas.0708408104. Epub 2007 Oct 16. Proc Natl Acad Sci U S A. 2007. PMID: 17940005 Free PMC article.

6

A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.

Byrd PJ, Stewart GS, Smith A, Eaton C, Taylor AJ, Guy C, Eringyte I, Fooks P, Last JI, Horsley R, Oliver AW, Janic D, Dokmanovic L, Stankovic T, Taylor AM. Byrd PJ, et al. PLoS Genet. 2016 Mar 18;12(3):e1005945. doi: 10.1371/journal.pgen.1005945. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 26990772 Free PMC article.

7

Microarray analysis reveals that TP53- and ATM-mutant B-CLLs share a defect in activating proapoptotic responses after DNA damage but are distinguished by major differences in activating prosurvival responses.

Stankovic T, Hubank M, Cronin D, Stewart GS, Fletcher D, Bignell CR, Alvi AJ, Austen B, Weston VJ, Fegan C, Byrd PJ, Moss PA, Taylor AM. Stankovic T, et al. Among authors: byrd pj. Blood. 2004 Jan 1;103(1):291-300. doi: 10.1182/blood-2003-04-1161. Epub 2003 Sep 4. Blood. 2004. PMID: 12958068 Free article.

8

Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

Austen B, Barone G, Reiman A, Byrd PJ, Baker C, Starczynski J, Nobbs MC, Murphy RP, Enright H, Chaila E, Quinn J, Stankovic T, Pratt G, Taylor AM. Austen B, et al. Among authors: byrd pj. Br J Haematol. 2008 Sep;142(6):925-33. doi: 10.1111/j.1365-2141.2008.07281.x. Epub 2008 Jun 28. Br J Haematol. 2008. PMID: 18573109 Free article.

9

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

Worth PF, Srinivasan V, Smith A, Last JI, Wootton LL, Biggs PM, Davies NP, Carney EF, Byrd PJ, Taylor AM. Worth PF, et al. Among authors: byrd pj. Mov Disord. 2013 Apr;28(4):524-8. doi: 10.1002/mds.25236. Epub 2012 Nov 9. Mov Disord. 2013. PMID: 23143971

10

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA. Ogi T, et al. Among authors: byrd pj. PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144622 Free PMC article.

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