4.7 Article

Whole-Exome Sequencing Implicates the USP34 rs777591A > G Intron Variant in Chronic Obstructive Pulmonary Disease in a Kashi Cohort

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

SMAD3 rs36221701 T>C polymorphism impacts COPD susceptibility in the Kashi population

Hui Gong et al.

Summary: The study revealed an association between the SMAD3 rs36221701 gene variant and COPD susceptibility, particularly among non-smokers. The TC genotype was linked to decreased COPD risk, while the CC genotype was associated with an increased risk. However, the genetic variation at the rs34307601 locus was not related to COPD susceptibility.
Article Cell Biology

Testosterone attenuates pulmonary epithelial inflammation in male rats of COPD model through preventing NRF1-derived NF-κB signaling

Xueting Wang et al.

Summary: Testosterone deficiency is common in male COPD patients and may worsen the disease. Testosterone replacement therapy has been shown to slow COPD progression by inhibiting NRF1-derived NF-kappa B signaling and phosphorylation of p65 in pulmonary epithelial inflammation.

JOURNAL OF MOLECULAR CELL BIOLOGY (2021)

Article Biochemistry & Molecular Biology

Impaired Differentiation of Chronic Obstructive Pulmonary Disease Bronchial Epithelial Cells Grown on Bronchial Scaffolds

Ulf Hedstrom et al.

Summary: The study found that airway epithelial cells in patients with Chronic Obstructive Pulmonary Disease (COPD) are damaged, and COPD epithelial cells show differential gene expression on COPD airway scaffolds compared to normal epithelial cells, with increased proliferation and maintained basal cell phenotype.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2021)

Article Respiratory System

Prevalence and Risk Factors of Chronic Obstructive Pulmonary Disease in Kashi Region, Northwestern China

Li Li et al.

Summary: The study revealed a higher prevalence of COPD among the Uyghur population in the Kashi region, with key risk factors including older age, smoking, low BMI, high waist circumference, and high systolic blood pressure, while vegetable and fruit intake may be a protective factor.

INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2021)

Article Respiratory System

The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China

Zulipikaer Abudureheman et al.

Summary: The study explored the relationship between the SNP of the SREK1 gene locus rs74794265 and COPD susceptibility in the Uyghur population of Kashi, Xinjiang, China. The heterozygous C/T genotype of rs74794265 was found to significantly reduce the risk of COPD and may act as a protective factor, especially among non-smoking patients. The occurrence of COPD in this region is likely more influenced by desert climate conditions and genetic factors rather than smoking status.

INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2021)

Article Endocrinology & Metabolism

Whole exome sequencing in familial isolated primary hyperparathyroidism

F. Cetani et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2020)

Review Biochemistry & Molecular Biology

Lipid-Protein and Protein-Protein Interactions in the Pulmonary Surfactant System and Their Role in Lung Homeostasis

Olga Canadas et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Article Endocrinology & Metabolism

Ubiquitin-Specific Protease 34 Inhibits Osteoclast Differentiation by RegulatingNF-κBSignaling

Qiwen Li et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2020)

Article Genetics & Heredity

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families

Tawfiq Froukh et al.

BMC MEDICAL GENETICS (2020)

Article Biochemistry & Molecular Biology

Detection of simple and complex de novo mutations with multiple reference sequences

Kiran Garimella et al.

GENOME RESEARCH (2020)

Article Clinical Neurology

Whole-exome sequencing in an Afrikaner family with bipolar disorder

Hannah-Ruth Engelbrecht et al.

JOURNAL OF AFFECTIVE DISORDERS (2020)

Article Clinical Neurology

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

Julia Y. Mescheriakova et al.

MULTIPLE SCLEROSIS JOURNAL (2019)

Article Clinical Neurology

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

Julia Y. Mescheriakova et al.

MULTIPLE SCLEROSIS JOURNAL (2019)

Article Biochemistry & Molecular Biology

USP39 regulates the cell cycle, survival, and growth of human leukemia cells

Chunxia Liu et al.

BIOSCIENCE REPORTS (2019)

Article Genetics & Heredity

LINC00673 rs11655237 C > T Polymorphism Impacts Hepatoblastoma Susceptibility in Chinese Children

Tianyou Yang et al.

FRONTIERS IN GENETICS (2019)

Article Genetics & Heredity

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

The effects of CXCL10 polymorphisms on COPD susceptibility

Yan Wang et al.

MOLECULAR GENETICS AND GENOMICS (2018)

Article Critical Care Medicine

Primary Ciliary Dyskinesia (PCD)

Adam Shapiro et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2018)

Article Respiratory System

The DNA repair transcriptome in severe COPD

Maor Sauler et al.

EUROPEAN RESPIRATORY JOURNAL (2018)

Article Multidisciplinary Sciences

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Viktor A. Adalsteinsson et al.

NATURE COMMUNICATIONS (2017)

Article Critical Care Medicine

Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Lung Disease 2017 Report

Claus F. Vogelmeier et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2017)

Article Critical Care Medicine

Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease

Dandi Qiao et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2016)

Article Genetics & Heredity

Multi-nucleotide de novo Mutations in Humans

Soren Besenbacher et al.

PLOS GENETICS (2016)

Article Respiratory System

Factors contributing to quality of life in COPD patients in South Korea

Hye-Young Kwon et al.

INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2016)

Article Genetics & Heredity

Genome-wide patterns and properties of de novo mutations in humans

Laurent C. Francioli et al.

NATURE GENETICS (2015)

Article Biochemistry & Molecular Biology

New insights into the performance of human whole-exome capture platforms

Janine Meienberg et al.

NUCLEIC ACIDS RESEARCH (2015)

Review Genetics & Heredity

Recent advances in primary ciliary dyskinesia genetics

Malgorzata Kurkowiak et al.

JOURNAL OF MEDICAL GENETICS (2015)

Article Environmental Sciences

Impact of haze and air pollution-related hazards on hospital admissions in Guangzhou, China

Zili Zhang et al.

ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH (2014)

Article Critical Care Medicine

Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary Disease GOLD Executive Summary

Jorgen Vestbo et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2013)

Article Biochemistry & Molecular Biology

The ubiquitin specific protease USP34 promotes ubiquitin signaling at DNA double-strand breaks

Shirley M. H. Sy et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Genetics & Heredity

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Heike Olbrich et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Biochemistry & Molecular Biology

DNA Damage Due to Oxidative Stress in Chronic Obstructive Pulmonary Disease (COPD)

Eirini Neofytou et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)

Review Genetics & Heredity

Rare and common variants: twenty arguments

Greg Gibson

NATURE REVIEWS GENETICS (2012)

Article Biochemistry & Molecular Biology

The Ubiquitin-Specific Protease USP34 Regulates Axin Stability and Wnt/β-Catenin Signaling

Tony T. H. Lui et al.

MOLECULAR AND CELLULAR BIOLOGY (2011)

Article Respiratory System

Genetic Epidemiology of COPD (COPDGene) Study Design

Elizabeth A. Regan et al.

COPD-JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2010)

Article Biochemistry & Molecular Biology

RelB Is Differentially Regulated by IκB Kinase-α in B Cells and Mouse Lung by Cigarette Smoke

Se-Ran Yang et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2009)

Article Genetics & Heredity

A genome-wide analysis of admixture in Uyghurs and a high-density admixture map for disease-gene discovery

Shuhua Xu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Cell Biology

Mutations in Hydin impair ciliary motility in mice

Karl-Ferdinand Lechtreck et al.

JOURNAL OF CELL BIOLOGY (2008)

Article Respiratory System

Increased expression of nuclear factor-κB in bronchial biopsies from smokers and patients with COPD

A Di Stefano et al.

EUROPEAN RESPIRATORY JOURNAL (2002)