Results 201 to 210 of about 968,335 (302)

ZIPcnv: accurate and efficient inference of copy number variations from shallow whole-genome sequencing. [PDF]

Bioinformatics
Xue Z, Zeng J, Wang X, Yuan J, Wang T, Lai X, Wang L, Wang Y, Zhu H, Jin X, Wang J.   +10 more
europepmc   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Abundant β-Defensin Copy Number Variations in Pigs. [PDF]

Genes (Basel)
Kim D, Cho HS, Kang M, Ahn B, Shin J, Park C.   +5 more
europepmc   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 more
wiley   +1 more source

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings. [PDF]

Arch Gynecol Obstet
Liang Y, Zhou R, Liu T, Gao J, Xu Y, Huang M, Meng L, Huo H, Zhang Q, Wu Y, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

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

Phenotypic spectrum and molecular characteristics of variants of uncertain significance in copy number variations associated with fetal cardiac malformations: a case series of 9 patients. [PDF]

Front Pediatr
Yin J, Wang Q, Lan T, Ou H, Zhou X, Zhong L, Cao H, Zhang L, Luo Y.   +8 more
europepmc   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Identification of copy number variations through whole genome resequencing between Jiuyishan and Hyplus rabbits. [PDF]

Front Vet Sci
Wang Y, Wang J, Ding H, Yang L, Zhao H, Huang D.   +5 more
europepmc   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source