Results 21 to 30 of about 156,482 (265)

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

PLoS ONE, 2020
Computational algorithms are often used to assess pathogenicity of Variants of Uncertain Significance (VUS) that are found in disease-associated genes. Most computational methods include analysis of protein multiple sequence alignments (PMSA), assessing ...
Alexander D Karabachev, Dylan J Martini, David J Hermel, Dana Solcz, Marcy E Richardson, Tina Pesaran, Indra Neil Sarkar, Marc S Greenblatt   +7 more
doaj   +1 more source

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

PLoS ONE, 2021
The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively analysed to characterise mutational signatures and identify potential driver genes and pathways of ...
Claudia Perne, Sophia Peters, Maria Cartolano, Sukanya Horpaopan, Christina Grimm, Janine Altmüller, Anna K Sommer, Axel M Hillmer, Holger Thiele, Margarete Odenthal, Gabriela Möslein, Ronja Adam, Sugirthan Sivalingam, Jutta Kirfel, Michal R Schweiger, Martin Peifer, Isabel Spier, Stefan Aretz   +17 more
doaj   +1 more source

APC Gene Testing for Familial Adenomatosis Polyposis [PDF]

JAMA, 2012
While genomics is destined to revolutionize clinical medicine, to date its beneficial effects have been somewhat muted. The promise and perils of genomics are emblemized by one of its flagship applications, namely the diagnosis of familial adenomatosis polyposis (FAP).
Hemant K, Roy, Janardan D, Khandekar
openaire   +2 more sources

Methylation of multiple genes in hepatitis C virus associated hepatocellular carcinoma

Journal of Advanced Research, 2014
We studied promoter methylation (PM) of 11 genes in Peripheral Blood Lymphocytes (PBLs) and tissues of hepatitis C virus (HCV) associated hepatocellular carcinoma (HCC) and chronic hepatitis (CH) Egyptian patients.
Abdel-Rahman N. Zekri, Abeer A. Bahnasy, Fatma elzahraa M. Shoeab, Waleed S. Mohamed, Dina H. El-Dahshan, Fahmey T. Ali, Gilane M. Sabry, Nairajana Dasgupta, Sayed S. Daoud   +8 more
doaj   +1 more source

Influence of some methylated hepatocarcinogenesis-related genes on the response to antiviral therapy and development of fibrosis in chronic hepatitis C patients [PDF]

Clinical and Molecular Hepatology, 2020
Background and Aim Epigenetics involved in multiple normal cellular processes. Previous research have revealed the role of hepatitis C virus infection in accelerating methylation process and affecting response to treatment in chronic hepatitis patients ...
Waleed Seif Eldin Mohamed Mostafa, Mohammed Hassan Saiem Al-Dahr, Dalia Abdel Hamid Omran, Zeinab Fathy Abdullah, Suzan Hamdy Elmasry, Mohamed Nabil Ibrahim   +5 more
doaj   +1 more source

Recurrent APC gene mutations in Polish FAP families [PDF]

Hereditary Cancer in Clinical Practice, 2007
The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics.
Pławski Andrzej, Podralska Marta, Słomski Ryszard   +2 more
openaire   +3 more sources

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer

Revista de Gastroenterología de México (English Edition), 2014
Background: Stomach cancer (SC) and colorectal cancer (CRC) present with high rates of incidence and mortality in the worldwide population. These 2 tumors are characterized by great genetic heterogeneity.
K.A. Palacio-Rúa, L.F. Isaza-Jiménez, E. Ahumada-Rodríguez, H. Ceballos-García, C.M. Muñetón-Peña   +4 more
doaj   +1 more source

Mutations of the APC Gene in Human Sporadic Colorectal Cancers [PDF]

Scandinavian Journal of Gastroenterology, 2002
Mutations of the APC gene are reported to occur frequently in sporadic colorectal adenomas and adenocarcinomas. We studied APC gene mutations in cases of human sporadic colorectal cancer in order to evaluate their correlation with pathologic characteristics and clinical prognosis.Most of the mutations of the APC gene (95%) are nonsense or frame shift ...
De Filippo, C, Luceri, C, Caderni, G, Pacini, M, Messerini, L, Biggeri, A, Mini, E, Tonelli, F, Cianchi, F, Dolara, P   +9 more
openaire   +5 more sources

Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon

Revista de Gastroenterología de México, 2014
Antecedentes: El cáncer de estómago (CE) y colorrectal (CCR) presentan altas tasas de incidencia y mortalidad en la población mundial. Estas 2 neoplasias se caracterizan por tener una gran heterogeneidad genética.
K.A. Palacio-Rúa, L.F. Isaza-Jiménez, E. Ahumada-Rodríguez, H. Ceballos-García, C.M. Muñetón-Peña   +4 more
doaj   +1 more source

Transcriptome analysis revealed unique genes as targets for the anti-inflammatory action of activated protein C in human macrophages. [PDF]

PLoS ONE, 2010
BACKGROUND: Activated protein C (APC) has been introduced as a therapeutic agent for treatment of patients with severe sepsis due to its unique anticoagulant and anti-inflammatory properties in the vascular system.
Claudia P Pereira, Esther B Bachli, Dominik J Schaer, Gabriele Schoedon   +3 more
doaj   +1 more source