• 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=7651392; DOI=10.1128/mcb.15.9.4745; PMCID=PMC230718
Eileen M. Rogan, Tracy M. Bryan, Bharati Hukku, Kenneth MacLean, Andy C.-M. Chang, Elsa L. Moy, Anna Englezou, Sally G. Warneford, Luciano Dalla-Pozza, Roger Robert Reddel;
Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts.
Mol. Cell. Biol. 15:4745-4753(1995)

PubMed=9175740; DOI=10.1093/hmg/6.6.921
Tracy M. Bryan, Lidija Marusic, Silvia Bacchetti, Masayoshi Namba, Roger Robert Reddel;
The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit.
Hum. Mol. Genet. 6:921-926(1997)

CLPUB00712
Jeremy David Henson;
The role of alternative lengthening of telomeres in human cancer.
Thesis PhD (2006); University of Sydney; Sydney; Australia

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=19935656; DOI=10.1038/nbt.1587
Jeremy David Henson, Ying Cao, Lily I. Huschtscha, Andy C.-M. Chang, Amy Y.M. Au, Hilda A. Pickett, Roger Robert Reddel;
DNA C-circles are specific and quantifiable markers of alternative-lengthening-of-telomeres activity.
Nat. Biotechnol. 27:1181-1185(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)