Results 111 to 120 of about 19,899 (215)

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells. [PDF]

, 2015
DNA mismatch repair (MMR) enzymes act as proofreading complexes that maintains genomic integrity and MMR-deficient cells show an increased mutation rate. MMR has also been shown to influence cell signaling and the regulation of tumor development.
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core   +1 more source

PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Journal of Ovarian Research, 2017
Background Granulosa cell tumors are rare ovarian malignancies. Their characteristics include unpredictable indolent growth with malignant potential and late recurrence. Approximately 95% are of adult type. Recent molecular studies have characterized the
Wen-Chung Wang, Ya-Ting Lee, Yen-Chein Lai   +2 more
doaj   +1 more source

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

, 2005
BACKGROUND & AIMS: Germline mutations in the DNA mismatch repair (MMR) genes MSH2, MSH6, or MLH1 predispose to colorectal cancer (CRC) with an autosomal dominant inheritance pattern.
Joerg Neuweiler, Mirco Menigatti, Jiricny, J, Schär, Primo, Russell, Anna, Kaspar Truninger, Anna Russell, Riehle, H-M, Hueseyin Yurtsever, Marra, Giancarlo, Karl Heinimann, Gebbers, J-O, Schär, P, Judith Luz, Russell, A, Yurtsever, Hueseyin, Fridolin Bannwart, Luz, J, Ritva Haider, Heinimann, K, Truninger, Kaspar, Hans Martin Riehle, Neuweiler, Joerg, Marra, Giancarlo; https://orcid.org/, Heinimann, Karl, Menigatti, Mirco, Jiricny, Josef, Cattaruzza, M S, Cattaruzza, Maria Sofia, Truninger, K, Neuweiler, J, Giancarlo Marra, Menigatti, M, Gebbers, Jan-Olaf, Bannwart, Fridolin, Haider, R, Yurtsever, H, Riehle, Hans-Martin, Haider, Ritva, Bannwart, F, Luz, Judith, Primo Schar, Jan Olaf Gebbers, Josef Jiricny   +43 more
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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

, 2008
BACKGROUND & AIMS: Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers.
Lindor, Noralane M., Green, Jane, Thibodeau, Stephen N., Jenkins, Mark A., BAGLIETTO, LAURA, de la Chapelle, A., Hampel, Heather, Young, Joanne, Hopper, John L., Potter, J., Young, J., Dowty, J., Thibodeau, S., Winship, Ingrid, Baglietto, L., White, Darren M., Clendenning, Mark, Sotamaa, Kaisa, Lindblom, A., Lindor, N., Dowty, James G., Senter, L., Clendenning, M., Senter, Leigha, White, D., Green, J., Hopper, J., Lindblom, Annika, Winship, I., Potter, John D., Jenkins, M., Sotamaa, K., Lagerstedt, K., Hampel, H., Lagerstedt, Kristina, de la Chapelle, Albert   +35 more
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DNA mismatch repair (MMR) genes expression in lung cancer and its correlation with different clinicopathologic parameters

Scientific Reports
Lung cancer (LC) is a crucial rapidly developing disease. In Egypt, it is one of the five most frequent cancers. Little is known about the impact of deleted mismatch repair genes and its correlation to clinicopathological characteristics.
Mayada Saad Farrag, Heba Wagih Abdelwahab, Amr Abdellateef, Nahla Anber, Mohamed Adel Ellayeh, Dalia Tawfeek Hussein, Ahmed Ramadan Eldesoky, Heba Sheta   +7 more
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Absence of Pms2 increases somatic expansion load of the (GAA·TTC)_n sequence in cerebellum.

, 2013
Analysis of instability in cerebellum of Pms2+/+ and Pms2−/− mice. Progenitor allele lengths of 232, 199, 143, and 99 repeats for (A) Pms2+/+, and 224, 195, 152, and 101 repeats for (B) Pms2−/− are indicated by arrowheads.
Ricardo Mouro Pinto (207712), Chiranjeevi Sandi (283956), Mark A. Pook (126056), Sanjay I. Bidichandani (22466), Rebecka L. Bourn (303235), Irene De Biase (22465), Sahar Al-Mahdawi (126054)   +6 more
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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)

, 2006
Background & Aims: The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected ...
Brocker-Vriends, AHJT, Wagner, Anja; id_orcid, Wagner, A, Hendriks, YMC, Jagmohan-Changur, S, Tops, C, Ausems, MGFM, Morreau, H, Breuning, MH, Wijnen, JT, Van Os, T, Wagner, Anja, Gomez, E, Vasen, HFA, van Puijenbroek, M, Van Der Klift, HM   +15 more
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A PMS2-specific colorectal surveillance guideline [PDF]

Genetics in Medicine, 2015
Sanne W. ten Broeke, Maartje Nielsen
openaire   +3 more sources

Detection of PMS2 mutations by screening hereditary nonpolyposis colon cancer families from Denmark and Sweden

, 2019
Background and Aims: Hereditary nonpolyposis colon cancer (HNPCC) and Lynch syndrome (LS) are characterized by defects in the mismatch repair (MMR) system, which protects the integrity of the genome.
Lindberg, Lars Joachim, Okkels, H, Wikman, Friedrik P, Hansen, TVO, Lagerstedt-Robinsson, K, Wikman, FP, Hansen, Thomas V O, Okkels, Henrik, Lindberg, LJ, Lolas, Ihab, Krarup, Henrik B, Krarup, HB, Lagerstedt-Robinsson, Kristina, Lolas, I   +13 more
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Regulation of the expression of DNA mismatch repair protein PMS2.

, 2012
Figure 6a; PMS2 expression levels were assessed by western blot analysis in whole cell lysates and actin expression used as a loading control. Figure 6b shows the Isobaric tagging tandem MS relative quantification data for PMS2 levels in the nucleus and ...
Michael Walker (20779), Anthony D. Whetton (156235), John R. Griffiths (156207), Toryn Poolman (156231), Elaine Spooncer (156220), Sam Taylor (156210), Mark Aspinall O’Dea (156215), Richard D. Unwin (156225), Andrew Pierce (156195), Ewa Jaworska (156204), David Ray (11501), Andrew Williamson (156199)   +11 more
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