نتایج جستجو برای: ژن stk11

تعداد نتایج: 16599  

Journal: :Human mutation 2005
Stefan Aretz Dietlinde Stienen Siegfried Uhlhaas Steffan Loff Walter Back Constanze Pagenstecher D Ross McLeod Gail E Graham Elisabeth Mangold René Santer Peter Propping Waltraut Friedl

Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome. A second locus was assumed in a large proportion of PJS patients. To date, STK11 alterations comprise mainly point mutations; only a small number of large deletions have been reported. We performed a mutation analysis for the ...

2009
P. Vasovčák A. Puchmajerová A. Křepelová

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for various neoplasms. Molecular analysis could be helpful...

Journal: :Cancer research 1998
S M Dong K M Kim S Y Kim M S Shin E Y Na S H Lee W S Park N J Yoo J J Jang C Y Yoon J W Kim Y M Yang S H Kim C S Kim J Y Lee

We analyzed somatic mutation and loss of heterozygosity (LOH) in the serine/threonine kinase 11 (STK11)/Peutz-Jeghers syndrome gene in 49 colorectal tumors in three different stages of a dysplasia-carcinoma sequence. We detected LOH in 10 of 19 (52.6%) informative colorectal cancers at loci D19S886 and/or D19S883, but no LOH was observed in 25 informative adenomas. We detected a total of 9 soma...

2017
Zi-Ye Zhao Yu-Liang Jiang Bai-Rong Li Fu Yang Jing Li Xiao-Wei Jin Shu-Han Sun Shou-Bin Ning

RATIONALE Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous pigm...

Journal: :BioMedInformatics 2021

Studies have shown that STK11 mutation plays a critical role in affecting the lung adenocarcinoma (LUAD) tumor immune environment. By training an Inception-Resnet-v2 deep convolutional neural network model, we were able to classify STK11-mutated and wild-type LUAD histopathology images with promising accuracy (per slide AUROC = 0.795). Dimensional reduction of activation maps before output laye...

Journal: :Clinical genetics 2013
P Orellana F López-Köstner C Heine C Suazo E Pinto J Church P Carvallo K Alvarez

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation s...

Journal: :Journal of Thoracic Oncology 2021

Immunotherapy has been one of the standard treatment options for lung cancer. Biomarkers such as PD-L1 and TMB have a certain predictive role on efficacy. At same time, studies also found that EGFR mutations ALK fusions were inversely related to efficacy immunotherapy. The MYSTIC trial evaluated STK11, KEAP1, ARID1A, KRAS their correlation with immune results showed STK11 and/or KEAP1 had poor ...

2015
Zhiheng Huang Shijian Miao Lin Wang Ping Zhang Bingbing Wu Jie Wu Ying Huang

BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease characterized by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots. Germline mutation of the serine/threonine kinase 11 (STK11) gene are responsible for PJS. In this study, we investigated the clinical characteristics and molecular basis of the disease in Chinese children with PJS. METHO...

2017
Xiaowei Ma Ge Bai Difei Lu Linjuan Huang Jianwei Zhang Ruifen Deng Shan Ding Nan Gu Xiaohui Guo

Background. Recent studies indicated that the Serine threonine kinase 11 (STK11), which is a key regulator of the AMP-activated protein kinase (AMPK), plays a crucial role in cardiovascular system. This study aimed to investigate whether genetic variations in the STK11 gene affect the risk of coronary artery disease (CAD) in Chinese type 2 diabetics. Methods. 5 haplotype-tagging single nucleoti...

2013
Rafaela Andrade-Vieira Zhaolin Xu Patricia Colp Paola A. Marignani

The tumor suppressor kinase LKB1 is mutated in a broad range of cancers however, the role of LKB1 mammary gland tumorigenesis is not fully understood. Evaluation of human breast cancer tissue microarrays, indicate that 31% of HER2 positive samples lacked LKB1 expression. To expand on these observations, we crossed STK11 (fl/fl) mice with mice genetically engineered to express activated Neu/HER2...

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