Results 181 to 190 of about 2,530,443 (206)

Long-range PCR facilitates the identification ofPMS2-specific mutations

Human Mutation, 2006
Mutations within the DNA mismatch repair gene, "postmeiotic segregation increased 2" (PMS2), have been associated with a predisposition to hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome).
Heather Hampel, Mark Clendenning
exaly   +2 more sources

Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Familial Cancer, 2013
Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein.
John Potter, Mark Clendenning, Mark Jenkins   +2 more
exaly   +2 more sources

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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 ...
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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
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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
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The frequency of previously undetectable deletions involving 3′ Exons of the PMS2 gene

Genes, Chromosomes and Cancer, 2012
AbstractLynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons 1–11 due to gene ...
Cecily P, Vaughn, Christine L, Baker, Wade S, Samowitz, Jeffrey J, Swensen   +3 more
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[Inactivation of PMS2 gene by promoter methylation in nasopharyngeal carcinoma].

Zhonghua zhong liu za zhi [Chinese journal of oncology], 2017
Objective: To investigate the inactivation of PMS2 gene mediated by promoter methylation and its regulatory mechanism in nasopharyngeal carcinoma (NPC). Methods: Fifty-four NPC tissues, 16 normal nasopharyngeal epithelia (NNE), 5 NPC cell lines (CNE1, CNE2, TWO3, HNE1 and HONE1) and 1 normal nasopharyngeal epithelial cell line (NP69) were collected ...
H F, Ni, B, Jiang, Z, Zhou, Y, Li, X Y, Yuan, X L, Cao, G W, Huang   +6 more
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PMS2 Gene Mutational Analysis: Direct cDNA Sequencing to Circumvent Pseudogene Interference

2014
The presence of highly homologous pseudocopies can compromise the mutation analysis of a gene of interest. In particular, when using PCR-based strategies, pseudogene co-amplification has to be effectively prevented. This is often achieved by using primers designed to be parental gene specific according to the reference sequence and by applying ...
Katharina, Wimmer, Annekatrin, Wernstedt
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

Clinical Genetics, 2013
Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of patients for genetic testing in LS is usually based on fulfillment of diagnostic clinical criteria (i.e.
A J, Brea-Fernández, J M, Cameselle-Teijeiro, C, Alenda, C, Fernández-Rozadilla, J, Cubiella, J, Clofent, J M, Reñé, U, Anido, M, Milá, F, Balaguer, A, Castells, S, Castellvi-Bel, R, Jover, A, Carracedo, C, Ruiz-Ponte   +14 more
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EXAMINATION OF CHROMOSOME 7p22 CANDIDATE GENES RBaK, PMS2 AND GNA12 IN FAMILIAL HYPERALDOSTERONISM TYPE II

Clinical and Experimental Pharmacology and Physiology, 2008
SUMMARY There are two types of familial hyperaldosteronism (FH): FH‐I and FH‐II. FH‐I is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH‐II, which is more common, is unknown. Adrenal hyperplasia and adenomas are features. We previously reported linkage of FH‐II to a ~5 Mb region on chromosome 7p22.
Jeske, Y., So, A., Kelemen, L, Sukor, N., Willys, C., Bulmer, B. J., Gordon, R. D., Duffy, D., Stowasser, M.   +8 more
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