Results 271 to 280 of about 1,021,105 (352)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort. [PDF]

Diagnostics (Basel)
Hoang TL, Doan TKP, Hoang TNL, Ho CT, Vu TH, Nguyen TT, Vu TH, Dao TT, Nguyen TMN, Nguyen PM, Nguyen HDA, Vu CD, Do PT, Pham QP, Nguyen QT, Nguyen TPM, Ninh To TT, Giang H, Luong TLA.   +18 more
europepmc   +1 more source

TREM2 variants in Alzheimer\u27s disease [PDF]

, 2013
Benitez, Bruno, Cai, Yefei, Carrell, David, Cooper, Breanna, Cruchaga, Carlos, et al,, Goate, Alison, Morris, John C   +7 more
core   +1 more source

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Extracellular vesicle‐based vaccines and immunotherapeutics for treatment of cancer

Interdisciplinary Medicine, EarlyView.
This review highlights the innovative value of extracellular vesicles (EVs) as cancer vaccines and immunotherapy carriers. EVs have natural advantages such as low immunogenicity, high biocompatibility, stability, and precise targeting, enabling efficient delivery of tumor antigens (e.g., HER2, AFP) and immune stimulants (e.g., TLR ligands, cytokines ...
Lejia Tan, Haonan Xing, Fang Fang, Yuanyu Huang, Mei Lu   +4 more
wiley   +1 more source

Whole-exome sequencing analysis identifies risk genes for schizophrenia. [PDF]

Nat Commun
Chick SL, Holmans P, Cameron D, Grozeva D, Sims R, Williams J, Bray NJ, Owen MJ, O'Donovan MC, Walters JTR, Rees E.   +10 more
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Biedziak B, Dąbrowska J, Bogdanowicz A, Karbowska K, Mostowska A.   +4 more
europepmc   +1 more source

Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1)

SL Leo, Jariya Upadia, S. Valley, L. A. Wall   +3 more
openalex   +1 more source

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

, 2013
Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro E. Cruz, James C. Mullikin, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony D. Sandler, Karin Fuentes Fajardo, Thomas C. Markello, Cynthia J. Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro   +20 more
openalex   +2 more sources