Results 101 to 110 of about 823,839 (283)

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 more
doaj   +1 more source

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

Advanced Science, EarlyView.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu, Zhijun Qin, Jiapeng Yang, Baoyuan Zhang, Manqing Cao, Peng Wang, Zaiqi Wang, Jinghui Cheng, Lei Wang, Hong Liu, Hui Yang   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Training material for exome sequencing

, 2016
<p>Exome sequencing means that all protein-coding genes in a genome are sequenced.</p> <p>In Humans, there are ~180,000 exons that makes up 1% of the human genome which contain ~30 million base pairs.
Houwaart, Torsten (5270419), Batut, Bérénice, Batut, Bérénice (5270416), Grüning, Björn, Grüning, Björn (5259599), Erxleben, Anika, Houwaart, Torsten, Erxleben, Anika (5259602)   +7 more
core   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Exome Sequencing in Every Pregnancy? Results of Trio Exome Sequencing in Structurally Normal Fetuses

Obstetrical & Gynecological Survey
(Abstracted from Prenat Diagn 2025;45:276–286) Prenatal exome sequencing (pES) is a genetic test that can identify single-nucleotide variants and other small mutations not detected by chromosomal microarray analysis (CMA). Diagnostic accuracy and turnaround time improve with trio analysis, which compares exome sequences from the mother ...
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
openaire   +2 more sources

Agent‐Based Simulations of Lung Tumor Evolution Suggest That Ongoing Cell Competition Drives Realistic Clonal Expansions

Advanced Science, EarlyView.
Computational simulations of tumor evolution are increasingly used to infer the rules underlying cancer growth, with the goal of one day recommending tailored treatments. Here we show that the properties of lung cancer sequencing data are best replicated by a model which assumes that cells compete both to proliferate and survive. ABSTRACT Computational
Helena Coggan, James R. M. Black, Carlos Martínez‐Ruiz, Kristiana Grigoriadis, Jasmin Fisher, Nicholas McGranahan   +5 more
wiley   +1 more source

Optimising rapid prenatal exome sequencing in the NHS genomic medicine service: the EXPRESS Synopsis

Health and Social Care Delivery Research
Background Prenatal exome sequencing for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the National Health Service Genomic Medicine Service.
Melissa Hill, Michelle Peter, Morgan Daniel, Hannah McInnes-Dean, Rema Ramakrishnan, Emma Smith, Holly Walton, Laura Blackburn, Jane Fisher, Naomi J Fulop, Marian Knight, Caroline Lafarge, Kerry Leeson-Beevers, Rhiannon Mellis, Stephen Morris, Michael Parker, Sophie Peet, Dagmar Tapon, Wing Han Wu, Sarah L Wynn, Lyn S Chitty   +20 more
doaj   +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 ...
Danke-Roelse, JE, Hart, S.L., Munye, Mustafa M., Scambler, PJ, Rosser, E.M., Hart, Stephen L, Beales, Philip L, Bacchelli, C, Moore, Anthony T., Chung, Eddie MK, Sloper, John J, Danke-Roelse, Jeannette E, Moore, A.T., Pals, Gerard, Beales, Philip L., Sloper, John J., Moore, Anthony T, Hogg, C, Hogg, C., Bacchelli, Chiara, Mitchison, Hannah M, Shoemark, A., Moore, AT, James, C.T., Scambler, Peter J, Chung, E.M.K., Rosser, Elisabeth M., Bacchelli, C., Shoemark, Amelia; id_orcid, Patel, M., Hogg, Claire, Onoufriadis, Alexandros, Schmidts, Miriam, Emes, R.D., Munye, Mustafa M, Hull, S., Sloper, JJ, Hull, Sarah, Beales, PL, Beales, P.L., Hart, Stephen L., Munye, MM, Schmidts, M, James, Chela T, Scambler, P.J., James, Chela T., Mitchison, H.M., nke-Roelse, J.E., Hull, S, Onoufriadis, A., Rosser, Elisabeth M, Emes, Richard D., Patel, Mitali, Pals, G., Mitchison, Hannah M., Patel, M, Pals, G, Emes, RD, Munye, M.M., James, CT, Schmidts, M., Danke-Roelse, Jeannette E., Chung, Eddie M.K., Shoemark, Amelia, Mitchison, HM, Emes, Richard D, Chung, EM, Shoemark, A, Onoufriadis, A, Sloper, J.J., Hart, SL, Rosser, EM, Scambler, Peter J.   +72 more
core   +1 more source