Results 181 to 190 of about 21,552 (215)

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  

Some of the next articles are maybe not open access.

Related searches:

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.
Thomas J Herzog, Janet S Rader, David G Mutch   +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.
Dominique Leroux, Christine Lasset, Alain Puisieux   +2 more
exaly   +3 more sources

The PMS2 gene is associated with HCVC

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022
Хронический вирусный гепатит С (ХВГС) является многофакторным заболеванием со сложной генетической компонентой. В настоящем исследовании была изучена вовлеченность гена PMS2 в развитие ХВГС и прогрессирование фиброза до цирроза печени. Проанализированы частоты аллелей и генотипов rs1805321 в гене PMS2 у пациентов с ХВГС (n=150) и популяционной выборке ...
openaire   +1 more source

A new PMS2 gene variant of unknown significance: How pathogenic is it?

Journal of Clinical Oncology, 2020
e13532 Background: The Lynch syndrome (LS) is the most common inherited syndrome associated with colorectal cancer (CRC). The hallmark of LS is DNA mismatch repair deficiency. The amount of variants of uncertain significance (VUS) in suspected LS confounds diagnosis, requiring surveillance of variant reclassifications. In this paper we describe a new
Clarissa Gondim Picanço-Albuquerque, Maria Júlia Barbosa Bezerra, Paulo Goberlanio de Barros Silva, Rosane Oliveira Sant'Ana, Maria Claudia dos Santos Luciano, Isabelle Joyce de Lima Silva-Fernandes, Marcos Venicio Alves Lima   +6 more
openaire   +1 more source

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

Extensive gene conversion at thePMS2DNA mismatch repair locus

Human Mutation, 2007
Mutations of the PMS2 DNA repair gene predispose to a characteristic range of malignancies, with either childhood onset (when both alleles are mutated) or a partially penetrant adult onset (if heterozygous). These mutations have been difficult to detect, due to interference from a family of pseudogenes located on chromosome 7.
Bruce E, Hayward, Michel, De Vos, Elizabeth M A, Valleley, Ruth S, Charlton, Graham R, Taylor, Eamonn, Sheridan, David T, Bonthron   +6 more
openaire   +2 more sources

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
openaire   +5 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