• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Thr125Thr (c.375G>A); ClinVar=VCV000177825; Zygosity=Hemizygous; Note=Impairs TP53 splicing dramatically (from parent cell line).
  

PubMed=8108114
Kenneth MacLean, Eileen M. Rogan, Noel J. Whitaker, Andy C.-M. Chang, Peter B. Rowe, Luciano Dalla-Pozza, Geoff Symonds, Roger Robert Reddel;
In vitro transformation of Li-Fraumeni syndrome fibroblasts by SV40 large T antigen mutants.
Oncogene 9:719-725(1994)

PubMed=19468068; DOI=10.1083/jcb.200810084; PMCID=PMC2711592
Wei-Qin Jiang, Ze-Huai Zhong, Akira Nguyen, Jeremy David Henson, Christian D. Toouli, Antony Wharton Braithwaite, Roger Robert Reddel;
Induction of alternative lengthening of telomeres-associated PML bodies by p53/p21 requires HP1 proteins.
J. Cell Biol. 185:797-810(2009)

PubMed=22829774; DOI=10.1371/journal.pgen.1002772; PMCID=PMC3400581
Courtney A. Lovejoy, Wen-Di Li, Steven Reisenweber, Supawat Thongthip, Joanne Bruno, Titia de Lange, Saurav De, John H.J. Petrini, Patricia A. Sung, Maria Jasin, Joseph Rosenbluh ...Show all 25 authors... , Yaara Zwang, Barbara A. Weir, Charlie Hatton, Elena V. Ivanova, Laura E. MacConaill, Megan Hanna, William Chun Hahn, Neal F. Lue, Roger Robert Reddel, Yu-Chen Jiao, Kenneth Wayne Kinzler, Bert Vogelstein, Nickolas Papadopoulos, Alan K. Meeker; Show fewer authors
ALT Starr Cancer Consortium
Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.
PLoS Genet. 8:e1002772.1-e1002772.16(2012)