Publications by authors named "JuanJuan Xie"

Background: As one of the key features of sleep, sleep duration (SD) has been confirmed to be associated with multiple health outcomes. However, the link between SD and cognitive function (CF) is still not well understood.

Methods: We employed a combined approach utilizing data from the National Health and Nutrition Examination Survey (NHANES 2011-2014) and Mendelian Randomization (MR) methods to investigate the relationship between SD and CF.

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Background: Adrenal-origin and peripheral tissue-transformed 11-oxygenated androgens are recognized as significant androgens. However, our current understanding of the synthesis of 11-oxygenated androgens, including the organs and cell types involved, remains limited.

Methods: We performed comprehensive analyses on an extensive dataset of normal human tissues, which included bulk RNA data from 30 tissues, single-cell RNA sequencing (scRNA) data from 16 tissues and proteomics data from 29 tissues, to characterize the expression profiles of enzyme-encoding genes.

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The Chinese tree shrew ( ) has emerged as a promising model for investigating adrenal steroid synthesis, but it is unclear whether the same cells produce steroid hormones and whether their production is regulated in the same way as in humans. Here, we comprehensively mapped the cell types and pathways of steroid metabolism in the adrenal gland of Chinese tree shrews using single-cell RNA sequencing, spatial transcriptome analysis, mass spectrometry, and immunohistochemistry. We compared the transcriptomes of various adrenal cell types across tree shrews, humans, macaques, and mice.

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Background And Aim: Stroke is a serious threat to human life and health, and post-stroke insomnia is one of the common complications severely impairing patients' quality of life and delaying recovery. Early understanding of the relationship between stroke and post-stroke insomnia can provide clinical evidence for preventing and treating post-stroke insomnia. This study was to investigate the prevalence of insomnia in patients with stroke.

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Objective: This study aimed to explore the correlation between preoperative frailty and the risk of postoperative delirium (POD) in older patients undergoing hip fracture surgery.

Methods: In total, 148 patients with hip fractures who were admitted to Tsinghua Changgung Hospital (Beijing, China) between January 2022 and January 2023 were involved in this study. Preoperative frailty scales were assessed, of which the CAM scale was postoperatively administered every morning and evening on days 1, 2, 3, 5, and 7.

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Introduction: Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by progressive degeneration of upper motor neurons. Homozygous or compound heterozygous variants in COQ4 have been reported to cause primary CoQ10 deficiency-7 (COQ10D7), which is a mitochondrial disease.

Aims: We aimed to screened COQ4 variants in a cohort of HSP patients.

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Background: Chronic Obstructive Pulmonary Disease (COPD) currently ranks as the third leading cause of mortality worldwide, imposing substantial burdens on societal and individual health. Amongst health research tools, walking pace (WP) and hand grip strength (HGS) are cornerstones, extensively associated with diverse health conditions. However, the intricate interplay between these factors and COPD risk remains ambiguous.

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Stromal antigen 2 (STAG2), a subunit of the cohesin complex, is recurrently mutated in various tumors. However, the role of STAG2 in DNA repair and its therapeutic implications are largely unknown. Here it is reported that knockout of STAG2 results in increased double-stranded breaks (DSBs) and chromosomal aberrations by reducing homologous recombination (HR) repair, and confers hypersensitivity to inhibitors of ataxia telangiectasia mutated (ATMi), Poly ADP Ribose Polymerase (PARPi), or the combination of both.

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Rationale: Congenital anatomical variation of internal carotid artery (ICA) rarely occurs, and congenital absence of the ICA is even rarer. Few reports are available on the diagnosis of congenital absence of the ICA by carotid doppler ultrasound (CDUS), and most cases have been identified by computed tomographic angiography (CTA) or digital subtraction angiography (DSA).

Patient Concerns: A 61-year-old male was admitted to our hospital due to dizziness for more than half a month.

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Background: Lung adenocarcinoma (LUAD) is the prevalent malignancy worldwide. The aim is to explore differentially expressed genes (DEGs) associated with immune infiltration and survival time of LUAD patients, and predict transcriptional factors for shedding new light on molecular mechanisms and individual therapy of LUAD.

Method: ScRNA-seq data of LUAD patients was downloaded from GSE148071 and analyzed by R packages.

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Background: Neurofilament light protein (NfL) has been proven to be a sensitive biomarker for Huntington's disease (HD). However, these studies did not include HD patients at advanced stages or with larger CAG repeats (>50), leading to a knowledge gap of the characteristics of NfL.

Methods: Serum NfL (sNfL) levels were quantified using an ultrasensitive immunoassay.

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The association between immune imbalances and adverse pregnancy outcomes has been extensive investigated by observational studies, but remain unclear. Thus, this study aimed to establish the causality of the circulation levels of cytokines on adverse pregnancy outcomes, such as offspring's birthweight (BW), preterm birth (PTB), spontaneous miscarriage (SM), and stillbirth (SB). Two-sample Mendelian randomization (MR) analysis was employed to investigate potential causal relations between 41 cytokines and pregnancy outcomes on the basis of previously published GWAS datasets.

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Transcription termination is the final step of a transcription cycle, which induces the release of the transcript at the termination site and allows the recycling of the polymerase for the next round of transcription. Timely transcription termination is critical for avoiding interferences between neighbouring transcription units as well as conflicts between transcribing RNA polymerases (RNAPs) and other DNA-associated processes, such as replication or DNA repair. Understanding the mechanisms by which the very stable transcription elongation complex is dismantled is essential for appreciating how physiological gene expression is maintained and also how concurrent processes that occur synchronously on the DNA are coordinated.

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Background: Epstein-Barr virus-associated gastric cancer (EBVaGC) exhibits unique histological characteristics within the immune-cell-rich microenvironment, but the role of tertiary lymphoid structure (TLS) in EBVaGC is not yet fully understood.

Methods: We retrospectively identified EBVaGC from 8517 consecutive GC cases from the two top cancer centers in China. Furthermore, we evaluated the prognostic value of TLS in 148 EBVaGC patients from our institute and then validated it in an external cohort (76 patients).

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To evaluate prognostic value of WTAP levels in tumor and paired adjacent non-neoplastic liver tissues (PANLT) for cases of hepatitis B virus (HBV)-positive Asian small hepatocellular carcinoma (sHCC) patients who received curative partial hepatectomy. The investigation with two external cohorts were included. Associations between hazard risk of recurrence and continuous WTAP levels were investigated with restricted cubic spline models.

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Background: The Unified Huntington's Disease Rating Scale (UHDRS) is a universal scale assessing disease severity of Huntington's disease (HD). However, the English version cannot be widely used in China, and the reliability and validity of the Chinese UHDRS have not yet been confirmed.

Objective: To test the reliability and validity of Chinse UHDRS in patients with HD.

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RNA polymerase (Pol) III is specialized to transcribe short, abundant RNAs, for which it terminates transcription on polythymine (dT) stretches on the non-template (NT) strand. When Pol III reaches the termination signal, it pauses and forms the pre-termination complex (PTC). Here, we report cryoelectron microscopy (cryo-EM) structures of the yeast Pol III PTC and complementary functional states at resolutions of 2.

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Article Synopsis
  • RNA polymerase III (RNAPIII) is responsible for synthesizing crucial noncoding RNAs, like transfer RNAs, and its termination mechanism is key for proper gene expression and preventing conflicts with DNA processes.
  • High-resolution analyses reveal that while T-tracts are necessary for RNAPIII termination, they aren't always enough; secondary RNA structures also play a significant role.
  • The helicase Sen1 is identified as a vital player in a fail-safe pathway for termination, highlighting a collaborative model of multiple mechanisms ensuring efficient RNAPIII function.
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Article Synopsis
  • CADASIL is a common small vessel disease linked to mutations in the NOTCH3 gene, which shows variability in clinical presentation among patients.
  • The study aimed to investigate NOTCH3 genetic mutations and clinical features of CADASIL patients through whole exome sequencing and analysis of existing genetic and clinical data from studies spanning over two decades.
  • Findings revealed two new mutations, differences in mutation frequencies between Asian and Caucasian populations, and distinct clinical symptoms, with Asians more prone to strokes and cognitive impairment, while Caucasians experienced more migraines and psychiatric issues.
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Background: Circular RNAs (circRNAs) regulate various biological activities and have been shown to play crucial roles in hepatocellular carcinoma (HCC) progression. However, only a few coding circRNAs have been identified in cancers, and their roles in HCC remain elusive. This study aimed to identify coding circRNAs and explore their function in HCC.

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Background: Serum C-reactive protein (CRP) is a biomarker of an acute inflammatory response and has been successfully used as a prognostic predictor for several malignancies. However, the clinicopathological significance of CRP levels in hepatocellular carcinoma (HCC) patients being treated with PD-1 inhibitors remains unclear.

Methods: Serum CRP levels were measured for a total of 101 HCC patients that had been treated with PD-1 inhibitors from July 2018 to November 2019.

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Purpose: To investigate the penetrance of gene mutation in primary open-angle glaucoma (POAG) through systematic review and meta-analysis. To explore the factors affecting the penetrance of and provide evidence-based medical evidence for clinical work.

Methods: We searched all studies that reported the penetrance of mutation in PubMed, Embase, Web of Science, and Chinese databases including Wanfang, CNKI (China National Knowledge Infrastructure), and CBM (China Bio-Med).

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Background: As one of the causes of urethral symptoms, female chronic posterior urethritis is a common and distressing disease; however, it is often neglected and misdiagnosed as overactive bladder (OAB) or interstitial cystitis/bladder pain syndrome (IC/BPS). Currently, little is known about the urothelium and lamina propria of the bladder neck and proximal urethra. Thus, identifying urethral lesions is necessary for the diagnosis and treatment of female chronic posterior urethritis.

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