Results 101 to 110 of about 732,644 (123)

An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancer. [PDF]

BMC Cancer
Lin X, Bian C, Liang D, Li L, Tang Q, Li Q.   +5 more
europepmc   +1 more source

Current insights into PHF14: molecular features and functional roles. [PDF]

Front Mol Biosci
Gopalakrishnan V, Fahma A, Raju R, Soman S.   +3 more
europepmc   +1 more source

Targeting PCNA in Cancer: A Paradigm Shift from Static Inhibition to Dynamic Network Modulation. [PDF]

Oncol Res
Lu S, Wang Y, Zhang H, Yan M, Sang M, Wang J, Du H, Sima J, Zhen Y, Yang X, Zhang Y, Zhou H.   +11 more
europepmc   +1 more source

Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination

Journal of Biological Chemistry, 2020
International audienceHomologous recombination (HR) repairs DNA double-strand breaks using intact homologous sequences as template DNA. Broken DNA and intact homologous sequences form joint molecules (JMs), including Holliday junctions (HJs), as HR ...
Raphaël Guérois, Valérie Borde, Jean-Baptiste Charbonnier   +2 more
exaly   +2 more sources

PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance

Proceedings of the National Academy of Sciences of the United States of America, 2010
The DNA mismatch repair protein PMS2 was recently found to encode a novel endonuclease activity. To determine the biological functions of this activity in mammals, we generated endonuclease-deficient Pms2
Paul L. Modrich, Sergio Roa, Winfried Edelmann   +2 more
exaly   +2 more sources

PMS2 expression decrease causes severe problems in mismatch repair [PDF]

Human Mutation, 2019
PMS2 is one of the four susceptibility genes in Lynch syndrome (LS), the most common cancer syndrome in the world. Inherited mutations in DNA mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, account for approximately 90% of LS, while a relatively small
Mariann Kasela, Minttu Kansikas
exaly   +2 more sources

Interaction of proliferating cell nuclear antigen with PMS2 is required for MutLα activation and function in mismatch repair

Proceedings of the National Academy of Sciences of the United States of America, 2017
Significance MutLα is required for initiation of eukaryotic mismatch repair. Inactivation of human MutLα is a cause of Lynch syndrome, a common hereditary cancer, and has also been implicated in the development of a subset of sporadic tumors ...
Paul L. Modrich, Lyudmila Y Kadyrova, Farid A Kadyrov   +2 more
exaly   +2 more sources

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Clinical Genetics, 2011
Heterozygous germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome. Biallelic mutations in the MMR genes are associated with a childhood cancer syndrome [constitutional mismatch repair-deficiency (CMMR-D ...
Ernst Kuipers, Monique van Leerdam, W N M Dinjens   +2 more
exaly   +2 more sources

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review [PDF]

Oncology Reviews
Constitutional mismatch repair deficiency (CMMRD) is a rare pediatric cancer predisposition syndrome primarily characterised by central nervous system (CNS), gastro-intestinal (GI) tumours and hematological malignancies, along with NF1-like cutaneous ...
Adela Chiriță-Emandi, Adrian Pavel Trifa, Diana Luisa Lighezan, Cătălin Vasile Munteanu, Alexandru Capcelea   +4 more
exaly   +2 more sources

Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma

Pathology, 2010
Anthony Gill, Adele Clarkson, Robert P Eckstein   +2 more
exaly