WNT signaling and bone: lessons from skeletal dysplasias and disorders
Y Huybrechts, G Mortier, E Boudin… - Frontiers in …, 2020 - frontiersin.org
Skeletal dysplasias are a diverse group of heritable diseases affecting bone and cartilage
growth. Throughout the years, the molecular defect underlying many of the diseases has …
growth. Throughout the years, the molecular defect underlying many of the diseases has …
Risk of breast cancer among carriers of pathogenic variants in breast cancer predisposition genes varies by polygenic risk score
PURPOSE This study assessed the joint association of pathogenic variants (PVs) in breast
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …
cancer (BC) predisposition genes and polygenic risk scores (PRS) with BC in the general …
Breast cancer: The translation of big genomic data to cancer precision medicine
SK Low, H Zembutsu, Y Nakamura - Cancer science, 2018 - Wiley Online Library
Cancer is a complex genetic disease that develops from the accumulation of genomic
alterations in which germline variations predispose individuals to cancer and somatic …
alterations in which germline variations predispose individuals to cancer and somatic …
Cancer genetics, precision prevention and a call to action
More than 15 years have passed since the identification, through linkage, of 'first-
wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …
wave'susceptibility genes for common cancers (BRCA1, BRCA2, MLH1 and MSH2). These …
Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities
IM McGrath, GW Montgomery… - Human reproduction …, 2023 - academic.oup.com
BACKGROUND Endometriosis remains a poorly understood disease, despite its high
prevalence and debilitating symptoms. The overlap in symptoms and the increased risk of …
prevalence and debilitating symptoms. The overlap in symptoms and the increased risk of …
Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals
Abstract Polygenic Scores (PSs) describe the genetic component of an individual's
quantitative phenotype or their susceptibility to diseases with a genetic basis. Currently, PSs …
quantitative phenotype or their susceptibility to diseases with a genetic basis. Currently, PSs …
Clinical utility of polygenic risk scores: a critical 2023 appraisal
S Koch, J Schmidtke, M Krawczak… - Journal of Community …, 2023 - Springer
Since their first appearance in the context of schizophrenia and bipolar disorder in 2009,
polygenic risk scores (PRSs) have been described for a large number of common complex …
polygenic risk scores (PRSs) have been described for a large number of common complex …
Assessing the causal association of glycine with risk of cardio-metabolic diseases
LBL Wittemans, LA Lotta, C Oliver-Williams… - Nature …, 2019 - nature.com
Circulating levels of glycine have previously been associated with lower incidence of
coronary heart disease (CHD) and type 2 diabetes (T2D) but it remains uncertain if glycine …
coronary heart disease (CHD) and type 2 diabetes (T2D) but it remains uncertain if glycine …
DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary …
V Sasidharan Nair, H El Salhat, RZ Taha, A John… - Clinical …, 2018 - Springer
Background High expression of immune checkpoints in tumor microenvironment plays
significant roles in inhibiting anti-tumor immunity, which is associated with poor prognosis …
significant roles in inhibiting anti-tumor immunity, which is associated with poor prognosis …
全球及我国乳腺癌发病和死亡变化趋势
张雅聪， 吕章艳， 宋方方， 陈可欣 - 肿瘤综合治疗电子杂志, 2021 - jmcm2018.com
近期, 肿瘤数据库GLOBOCAN 发布了全球癌症统计报告2020 版. 最新数据显示,
女性乳腺癌已超过肺癌, 成为全球癌症新发病例数首位的癌症, 同时也是中国人群癌症发病的第 …
女性乳腺癌已超过肺癌, 成为全球癌症新发病例数首位的癌症, 同时也是中国人群癌症发病的第 …