Results 91 to 100 of about 122,453 (313)

Clinical impact of splicing in neurodevelopmental disorders. [PDF]

, 2020
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How, Sanders, Stephan J, Schwartz, Grace B   +2 more
core   +1 more source

Clinicopathological and targeted exome gene features of a patient with metastatic acinic cell carcinoma of the parotid gland harboring an ARID2 nonsense mutation and CDKN2A/B deletion [PDF]

, 2015
We describe the presentation, treatment, clinical outcome, and targeted genome analysis of a metastatic salivary acinic cell carcinoma (AciCC). A 71-year-old male presented with a 3 cm right tail of a parotid lesion, first detected as a nodule by the ...
Momand, Jamil, Palma-Diaz, Fernando, Shibuya, Terry Y, Warner, Wayne A, Wong, Deborah J   +4 more
core   +4 more sources

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing [PDF]

, 2021
Rosario Rich Trifiletti, Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Sigrid M. A. Swagemakers, Peter J. van der Spek   +10 more
openalex   +1 more source

A Non‐Canonical Core Transcriptional Regulatory Circuit Orchestrates Chromatin Reprogramming to Drive Osimertinib Resistance in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
A non‐canonical core transcriptional regulatory circuit, composed of ID3, SMAD3, and NR2F2, drives Osimertinib resistance in non‐small cell lung cancer through super‐enhancer‐mediated activation of EPAS1, which couples neuroendocrine differentiation with ferroptosis evasion.
Aochu Liu, Zhenguo Liu, Lizhen Jiang, Andong Huang, Xinqing Lin, Xinyue Li, Bingyuan Liu, Shiwen Hu, Qiang Pan, Junjun Huang, Liyuan Yin, Liling Jiang, Wei Yi, Wenjun Mao, Yueyuan Zheng, Xianping Shi   +15 more
wiley   +1 more source

Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres [PDF]

, 2019
Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings.
De Baere, Elfride, Devisch, Ignaas, Mertes, Heidi, Moerenhout, Tania, Saelaert, Marlies   +4 more
core   +2 more sources

Advances in Gastric Cancer Research: Insights Into Carcinogenesis, the Tumor Microenvironment, Metastasis, and Factors Influencing Prognosis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Background The Department of Gastroenterological Surgery at Kumamoto University has maintained a commitment to integrating cutting‐edge clinical practice with fundamental research, particularly concerning malignant diseases of the digestive tract.
Hideo Baba, Takatsugu Ishimoto, Yoshifumi Baba, Hiromitsu Hayashi, Masaaki Iwatsuki   +4 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

OXidative Stress PREDictor: A Supervised Learning Approach for Annotating Cellular Oxidative Stress States in Inflammatory Cells

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
OxSpred, an eXtreme‐Gradient‐Boosting‐‐based supervised learning model, accurately annotates oxidative stress in innate immune cells at the single‐cell level, providing interpretable embeddings with significant biological relevance. This innovative tool revolutionizes the understanding of innate immune cell functions during inflammation and enhances ...
Po‐Yuan Chen, Tai‐Ming Ko
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source