相关论文: Reply: Early-onset phenotype of bi-allelic GRN mut…

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders,…

BACKGROUND: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide…

Changing-look (CL) Active Galactic Nuclei (AGNs), characterized by appearance/disappearance of broad emission lines in the span of a few years, present a challenge for the AGN unified model, whereby the Type 1 vs. Type 2 dichotomy results…

A previous report claimed no evidence of transgenerational epigenetic inheritance in a mouse model of in utero environmental exposure, based on the observation that gene expression changes observed in the germ cells of G1 and G2 male fetus…

Two major challenges to unification schemes for active galactic nuclei (AGN) are the existence of Narrow-Line Seyfert 1s (NLS1s) and the existence of changing-look (CL) AGNs. AGNs can drastically change their spectral appearance in the…

The evolutionary origins of structural features in reconstructed gene-regulatory networks (GRNs) remain poorly understood, especially given the random aspects of gene expression. Here, we extend a classical model of GRN evolution to allow a…

The widely accepted active galactic nucleus (AGN) paradigm has been recently challenged by the discovery of the so-called ``changing-look'' (CL) phenomenon characterized by spectral-type transitions. By comparing the SDSS-V and SDSS DR16…

We here report a spectroscopic identification of two new changing-look AGNs (CL-AGNs): SDSS\,J104705.16+544405.8 and SDSS\,J120447.91+170256.8 both with a "turn-off" type transition from type 1 to type 1.8/1.9. The identification is arrived…

Despite the impact of psychiatric disorders on clinical health, early-stage diagnosis remains a challenge. Machine learning studies have shown that classifiers tend to be overly narrow in the diagnosis prediction task. The overlap between…

Heterogeneity of brain diseases is a challenge for precision diagnosis/prognosis. We describe and validate Smile-GAN (SeMI-supervised cLustEring-Generative Adversarial Network), a novel semi-supervised deep-clustering method, which dissects…

The changing-look active galactic nucleus (CL-AGN), an extraordinary subpopulation of supermassive black holes, has attracted growing attention for understanding its nature. We present an analysis of the spectral properties of 203…

Cancer progresses with a change in the structure of the gene network in normal cells. We define a measure of organizational hierarchy in gene networks of affected cells in adult acute myeloid leukemia (AML) patients. With a retrospective…

Machine learning methods applied to complex biomedical data has enabled the construction of disease signatures of diagnostic/prognostic value. However, less attention has been given to understanding disease heterogeneity. Semi-supervised…

Brain imaging has allowed neuroscientists to analyze brain morphology in genetic and neurodevelopmental disorders, such as Down syndrome, pinpointing regions of interest to unravel the neuroanatomical underpinnings of cognitive impairment…

Chronic Myeloid Leukemia (CML) is a biphasic malignant clonal disorder that progresses, first with a chronic phase, where the cells have enhanced proliferation only, and then to a blast phase, where the cells have the ability of…

In this paper, we describe our method for classification of brain magnetic resonance (MR) images into different abnormalities and healthy classes based on the deep neural network. We propose our method to detect high and low-grade glioma,…

Whereas the relationship between criticality of gene regulatory networks (GRNs) and dynamics of GRNs at a single cell level has been vigorously studied, the relationship between the criticality of GRNs and system properties at a higher…

The discovery of changing-look active galactic nuclei (CL AGNs), with appearance and disappearance of broad emission lines and/or with strong variation of line-of-sight column density within a few years, challenges the AGN unification…

The nature of the so-called ``changing-look'' (CL) active galactic nucleus (AGN), which is characterized by spectral-type transitions within $\sim10$~yr, remains an open question. As the first in our series of studies, we here attempt to…

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…