Results 171 to 180 of about 2,530,443 (206)

Lynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era. [PDF]

Cancers (Basel)
Liu Y, Ye S, Liu Z, Chen Z, Liang X.
europepmc   +1 more source

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

, 2014
Cameselle Teijeiro, Jose Manuel, Cubiella Fernández, Joaquín, Brea Fernández, Alejandro, Anido Herranz, Urbano, Carracedo Álvarez, Ángel, Fernández Rozadilla, Ceres, Ruiz Ponte, Clara, Clofent Villaplana, Juan   +7 more
openaire   +1 more source

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells
openaire   +1 more source

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.

International Journal of Oncology, 1998
Hereditary non-polyposis colorectal cancer (HNPCC) is a genetically heterogeneous disease for which PMS2 gene, a member of the human PMS gene family, is believed to have a marginal role. To better define the contribution of PMS2 to hereditary colorectal cancer, we investigated this gene in 22 unrelated Italian patients that, despite a positive family ...
Viel A, Fornasarig M, Novella E, Genuardi M, Capozzi E, PEDRONI, Monica, Santarosa M, PONZ DE LEON, Maurizio, Della Puppa L, Anti M, Boiocchi M.   +10 more
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Mutational Analysis of the PMS2 Gene in Sporadic Endometrial Cancers with Microsatellite Instability

Gynecologic Oncology, 1999
Approximately 20% of endometrial tumors have a defect in DNA mismatch repair and exhibit microsatellite instability (MSI). We assessed the role of the PMS2 DNA mismatch repair gene in MSI-positive sporadic endometrial tumors.We examined 40 sporadic endometrial tumor specimens with MSI.
Paul Goodfellow, David Mutch, J S Rader   +2 more
exaly   +3 more sources

Novel biallelic mutations inMSH6 andPMS2 genes: gene conversion as a likely cause ofPMS2 gene inactivation

Human Mutation, 2007
Since the first report by our group in 1999, more than 20 unrelated biallelic mutations in DNA mismatch repair genes (MMR) have been identified. In the present report, we describe two novel cases: one carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 gene.
Alain Puisieux
exaly   +3 more sources

PMS2 and POLR2J gene families as molecular markers of the higher primates evolution

Russian Journal of Genetics, 2010
We have studied the molecular evolution of two gene families specific for primates: POLR2J of the transcription system and PMS2 of the mismatch repair (MMR) system. The appearance of these families and upgrading of their genetic structures was shown to neatly correlate with the main stages of the biological evolution of higher primates.
E. K. Shematorova, D. G. Shpakovski, G. V. Shpakovski   +2 more
exaly   +2 more sources

Human PMS2 gene family: Origin, molecular evolution, and biological implications

Doklady Biochemistry and Biophysics, 2006
D G, Shpakovskii, E K, Shematorova, G V, Shpakovskii   +2 more
exaly   +3 more sources