Results 61 to 70 of about 112,737 (278)

CNVs in neuropsychiatric disorders [PDF]

Human Molecular Genetics, 2015
Over the last few years at least 11 copy number variations (CNVs) have been shown convincingly to increase risk to developing schizophrenia: deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3 and 22q11.2, and duplications at 1q21.1, 7q11.23, 15q11.2-q13.1, 16p13.1 and proximal 16p11.2.
openaire   +2 more sources

Association of CDKN2A/B Homozygous Deletion and Extent of Resection With Survival of Patients With WHO CNS5 Grade 4 Astrocytoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives WHO grade 4 astrocytomas are associated with poor prognosis, and their prognostic factors remain controversial. This study aimed to identify the prognostic factors and develop a management algorithm for these patients. Methods This study retrospectively included 151 CNS5 adult grade 4 astrocytomas from two medical centers.
Jiawei Cai, Guanglin Zhu, Qiu He, Chen Luo, Lingyun Zhuo, Xingfu Wang, Yiming Chen, Xiaoyong Chen, Wendong You, Jiaheng Xu, Yuanxiang Lin, Dezhi Kang, Shuai Wu, Zanyi Wu   +13 more
wiley   +1 more source

Accelerated High-Resolution Photoacoustic Tomography via Compressed Sensing [PDF]

, 2016
Current 3D photoacoustic tomography (PAT) systems offer either high image quality or high frame rates but are not able to deliver high spatial and temporal resolution simultaneously, which limits their ability to image dynamic processes in living tissue.
Arridge, Simon, Beard, Paul, Betcke, Marta, Cox, Ben, Huynh, Nam, Lucka, Felix, Ogunlade, Olumide, Zhang, Edward   +7 more
core   +2 more sources

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

RPE disruption and hyper-transmission are early signs of secondary CNV with punctate inner choroidopathy in structure-OCT

BMC Ophthalmology, 2021
Purpose To study whether retinal pigment epithelium (RPE) disruption and choroidal hyper-transmission on spectral-domain optical coherence tomography (SD-OCT) are signs of inflammatory neovascularization (CNV) in punctate inner choroidopathy (PIC ...
Yanru Chen, Qian Chen, Xiaoxin Li, Minghan Li   +3 more
doaj   +1 more source

In vivo evaluation of laser-induced choroidal neovascularization in rats simultaneously using optical coherence tomography and photoacoustic microscopy

Journal of Innovative Optical Health Sciences, 2021
Determination of the precise location and the degree of the Choroidal neovascularization (CNV) lesion is essential for diagnosation Neovascular age-related macular degeneration (AMD) and evaluation the efficacy of treatment.
Fengxian Du, Lei Gao, Lin Li, Qian Li, Fenghua Wang, Chuanqing Zhou, Cuixia Dai   +6 more
doaj   +1 more source

Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]

, 2014
Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Axelsson, Bryk, Carter, Cooper, Cucchi, Cutler, Didion, Dieringer, Egan, Ellegren, Faircloth, Fare, Feuk, Gentleman, Gonzalez, Graubert, Hastings, Henrichsen, Ihle, Karolchik, Lee, Perry, Pozhitkov, Redon, Rozen, Schlötterer, Schlötterer, Staubach, Stranger, Teschke, Wang, Wang, Williams, Wineinger, Yalcin, Yang   +35 more
core   +2 more sources

Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay [PDF]

Genetics Selection Evolution, 2010
Repeated blocks of genome sequence have been shown to be associated with genetic diversity and disease risk in humans, and with phenotypic diversity in model organisms and domestic animals. Reliable tests are desirable to determine whether individuals are carriers of copy number variants associated with disease risk in humans and livestock, or ...
Henshall, John M., Whan, Vicki A., Norris, Belinda J.   +2 more
openaire   +4 more sources

Interfacial Bioengineering of Dynamic Networks Hybrid Hydrogel for Programmed Intervention in Oral Precancerous Epithelial States

Advanced Healthcare Materials, EarlyView.
This study develops a dual‐bioinspired hydrogel, MSA@PGel (macrophage membrane‐coated and salvianolic acid B/5‐aminolevulinic acid co‐loaded liposomes embedded in a polydopamine‐based gel), that integrates macrophage membrane‐mediated active targeting and mussel‐inspired wet adhesion for programmed intervention in oral precancerous lesions.
Xiaoxian Zhao, Ao Zheng, Zhengyan Zhao, Qilin Li, Tianhao Wan, Tanjun Deng, Ying Zhang, Lingyan Cao, Lan Wu   +8 more
wiley   +1 more source

Aqueous Levels of Pigment Epithelium-Derived Factor and Macular Choroidal Thickness in High Myopia

Journal of Ophthalmology, 2015
Purpose. To investigate the correlation between aqueous and serum levels of pigment epithelium-derived factor (PEDF) and macular choroidal thickness in high myopia patients, both with and without choroidal neovascularization (CNV). Methods.
Wei Chen, Yubo Guan, Guanghui He, Zhiwei Li, Hui Song, Shiyong Xie, Quanhong Han   +6 more
doaj   +1 more source