Results 61 to 70 of about 22,489,720 (176)

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai, Bei Wang, Mingmin Shi, Dianwei Liu, Huimin Ji, Ting Wang, Ziwei Wang, Kaiming Guo, Xinyang Dou, Chunyan Qian, Fang Zhang, Yongming Wang, Hongju Mao, Rui Wang   +13 more
wiley   +1 more source

Analysis of HLA Variants and Graves’ Disease and Its Comorbidities Using a High Resolution Imputation System to Examine Electronic Medical Health Records

Frontiers in Endocrinology, 2022
Hyperthyroidism is a prevalent endocrine disorder, and genetics play a major role in the development of thyroid-associated diseases. In particular, the inheritance of HLA has been demonstrated to induce the highest susceptibility to Graves’ disease (GD).
Wen-Ling Liao, Wen-Ling Liao, Ting-Yuan Liu, Chi-Fung Cheng, Yu-Pao Chou, Yu-Pao Chou, Tzu-Yuan Wang, Ya-Wen Chang, Ya-Wen Chang, Shih-Yin Chen, Shih-Yin Chen, Fuu-Jen Tsai, Fuu-Jen Tsai   +12 more
doaj   +1 more source

Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View [PDF]

, 2012
Background Phenome-Wide Association Studies (PheWAS) can be used to investigate the association between single nucleotide polymorphisms (SNPs) and a wide spectrum of phenotypes.
Dudek Scott M, Scott M Dudek, Crawford Dana C, Ritchie Marylyn D, Sarah A Pendergrass, Dana C Crawford, Pendergrass Sarah A, Marylyn D Ritchie   +7 more
core   +2 more sources

Characterizing Autism Phenotype Onset in the Electronic Health Records to Enable Age‐Specific Screening

Autism Research, EarlyView.
ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen, Jerard Kneifati‐Hayek, Charlotte Zelin, Da Wu, Quan M. Nguyen, Casey N. Ta, Cong Liu, Kai Wang, Wendy K. Chung, Chunhua Weng   +9 more
wiley   +1 more source

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han, Yuke Wang, Yixiong Dang, Rong Xiang, Yan Zeng, Sheng He, Ye Ju, Zilan Chen, Ting Liu, Zihao Li, Yuqi Pang, Wanyi Tan, Jue Xu, Jingwen Jiang, Xia Jiang   +14 more
wiley   +1 more source

Risk of Cardiovascular Disease Mortality in Patients With Diagnosed Cancer and Associated Genetic and Proteomic Mechanisms: A UK Biobank‐Based Cohort Study

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Previous studies have identified a link between cancer and cardiovascular disease; however, the underlying genetic and proteomic mechanisms remain unclear. Therefore, this study aimed to investigate the association between cancer diagnosis and
Yuan Du, Sen Han, Jiaxi Cheng, Zhangyu Lin, Yanjun Song, Shanshan Shi, Zixiang Ye, Yingyi Xie, Wenbo Ding, Yuanlin Guo, Shuang Wang, Kefei Dou   +11 more
doaj   +1 more source

Sensitivity and Criterion Validity of ED100K Lifetime Eating Disorder Diagnoses: A Study Using a National Eating Disorder Quality Register

International Journal of Eating Disorders, EarlyView.
ABSTRACT Background Epidemiological and genomic studies of eating disorders (ED) require scalable approaches to case ascertainment. The self‐report ED100K questionnaire assesses lifetime ED diagnoses, has been translated into several languages, and has been used in large cohort studies, with data shared or planned for sharing through major repositories
Hunna J. Watson, Andreas Birgegård, Liv Hog, Lisa Dinkler, Emma Forsén Mantilla, Laura M. Thornton, Cynthia M. Bulik   +6 more
wiley   +1 more source

Integration of Genome‐Wide Association Studies With Single‐Cell and Bulk Expression Quantitative Trait Locus to Identify Stroke Susceptibility Genes

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Previous studies have integrated genome‐wide association studies with expression quantitative trait locus (eQTL) data from bulk tissues to identify stroke susceptibility genes. However, eQTL data exhibit high cell‐type specificity, and genetic
Yijie He, Tao Zhang, Ping Zhu, Shan Gao, Shiyang Wu, Fengzhen Liu, Yan Chen, Yingshui Yao, Guiyou Liu   +8 more
doaj   +1 more source

Toward Objective Anal Cancer Screening: From Swab‐Based Genome‐Wide Methylation Marker Discovery to Novel Test Development

International Journal of Cancer, EarlyView.
ABSTRACT Anal high‐grade squamous intraepithelial lesions (HSIL:AIN2/3) are precursors to anal cancer, and early detection and treatment through screening is crucial for effective cancer prevention. Current guidelines recommend anal swab‐based screening and highlight the need for objective biomarkers to improve risk stratification.
Kirsten Rozemeijer, Jürgen Claesen, Fernando Dias Gonçalves Lima, Albertus T. Hesselink, Phoebe Klingers, Timo ter Braak, Yara van den Burgt, Chris J. L. M. Meijer, Jan M. Prins, Henry J. C. de Vries, Mark A. van de Wiel, Renske D. M. Steenbergen   +11 more
wiley   +1 more source

Rational design of a lipophilic β‐galactosidase‐responsive near‐infrared probe for in vivo imaging of cellular senescence

Smart Molecules, EarlyView.
We developed a lipophilic near‑infrared probe (DCIP‑AcGal) that is specifically activated by senescence‑associated β‑galactosidase. After intravenous injection, it lights up therapy‑induced tumor senescence in living mice. Its optimized lipophilicity also enables blood‑brain barrier crossing to detect natural brain senescence ex vivo. This probe offers
Jiani Huang, Feiyi Chu, Bin Feng, Lin Chen, Peili Cen, Jing Wang, Ying Qu, Lu Hong, Fei Wu, Huanfeng Tian, Yanpeng Fang, Yuanjie Chen, Mei Tian, Wenbin Zeng, Hong Zhang, Yan Zhong   +15 more
wiley   +1 more source