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UnknownAnalysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

Background

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a rare disease inherited in an X-linked autosomal recessive pattern. It is the prevailing form of the mucopolysaccharidoses in China. Here we investigated mutations of IDS (iduronate 2-sulfatase) gene in 38 unrelated Chine...
S-EPMC3150403 | biostudies-literature
UnknownSystematic Genome-Wide Profiles Reveal Alternative Splicing Landscape and Implications of Splicing Regulator DExD-Box Helicase 21 in Aggressive Progression of Adrenocortical Carcinoma.
Alternative splicing (AS) in the tumor biological process has provided a novel perspective on carcinogenesis. However, the clinical significance of individual AS patterns of adrenocortical carcinoma (ACC) has been underestimated, and in-depth investigations are lacking. We selected 76 ACC samples fr...
S-EPMC9590509 | biostudies-literature
UnknownmiR-101 targeting ZFX suppresses tumor proliferation and metastasis by regulating the MAPK/Erk and Smad pathways in gallbladder carcinoma.
Gallbladder cancer (GBC), the most common malignancy of the bile duct, is highly aggressive and has an extremely poor prognosis, which is a result of early metastasis. As it is regulated being at multiple levels, the metastatic cascade in GBC is complex. Recent evidence suggests that microRNAs (miRN...
S-EPMC5008364 | biostudies-literature
UnknownEvaluating the effectiveness of mindfulness-based interventions on rumination and negative emotions in Chinese University Students: A randomized controlled trial.

Objectives

Rumination and negative emotions are prevalent among university students and are strongly linked to mental health disorders, including depression and anxiety. Group counseling involving a mindfulness-based strategies may help prevent university students from developing rumination ...
S-EPMC12404387 | biostudies-literature
UnknownDevelopment and evaluation of a large language model of ophthalmology in Chinese.

Background

Large language models (LLMs), such as ChatGPT, have considerable implications for various medical applications. However, ChatGPT's training primarily draws from English-centric internet data and is not tailored explicitly to the medical domain. Thus, an ophthalmic LLM in Chinese i...
S-EPMC11503135 | biostudies-literature
ProteomicsHuman LC-MS/MS for MBTPS1/S1P protein
To explore the molecular mechanism underlying the inflammatory symptoms, we set out to screen S1P interactors using Co-IP and liquid chromatography-tandem mass spectrometry (LC-MS/MS) and identified 29 potential candidates
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD031064 | Pride
Human lc-ms/ms 
UnknownOxygenation index and NT-proBNP as predictors of pulmonary hypertension and ventilation/perfusion mismatch in acute pulmonary embolism.

Introduction

The magnitude of pulmonary artery pressure (PAP) and the extent of ventilation/perfusion (V/Q) mismatch are essential for assessing the prognosis of acute pulmonary embolism (APE). We aimed to develop a model for predicting the status of the pulmonary circulation and arterial ga...
S-EPMC9940751 | biostudies-literature
UnknownA simple model to predict risk of gestational diabetes mellitus from 8 to 20 weeks of gestation in Chinese women.

Background

Gestational diabetes mellitus (GDM) is associated with adverse perinatal outcomes. Screening for GDM and applying adequate interventions may reduce the risk of adverse outcomes. However, the diagnosis of GDM depends largely on tests performed in late second trimester. The aim of t...
S-EPMC6642502 | biostudies-literature
UnknownLung-specific exosomes for co-delivery of CD47 blockade and cisplatin for the treatment of non-small cell lung cancer.
A cluster of differentiation 47 (CD47) and immune-modulatory protein for myeloid cells has been implicated in cisplatin (CDDP) resistance. Exosome delivery of drugs has shown great potential for targeted drug delivery in the treatment of various diseases. In the current study, we explored the approa...
S-EPMC9527158 | biostudies-literature
UnknownANLN Promotes the Proliferation and Migration of Gallbladder Cancer Cells via STRA6-Mediated Activation of PI3K/AKT Signaling.
The ANLN gene encodes anillin, a protein that binds to actin. Recent research has identified ANLN's function in the initiation and advancement of different cancers. However, its impact on gallbladder cancer (GBC) remains unexplored. This study aimed to elucidate its possible molecular ...
S-EPMC10887181 | biostudies-literature
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