☆ 4.5 Article

KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis

RESPIRATORY RESEARCH (2023)

Related references

Note: Only part of the references are listed.

Article Multidisciplinary Sciences

FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja Kurki et al.

Summary: Population isolates, like those in Finland, provide valuable insights for genetic research due to the concentration of deleterious alleles in low-frequency variants. FinnGen aims to study the genome and health data of 500,000 Finnish individuals, enabling the identification of new associations and the exploration of their implications for common diseases. The study identified 30 new associations and 2,733 genome-wide significant associations, highlighting the power of bottlenecked populations in uncovering disease biology.

NATURE (2023)

Add to Collection

Editorial Material Critical Care Medicine

Defining the Genetic Landscape of Idiopathic Pulmonary Fibrosis: Role of Common and Rare Variants

Benjamin J. Moss et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)

Add to Collection

Article Respiratory System

Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases

Ming Chen et al.

Summary: Our study identified new genes associated with IPF susceptibility through integrative analysis, expanding the understanding of the complex genetic architecture and disease mechanism of IPF.

THORAX (2023)

Add to Collection

Article Critical Care Medicine

Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants

Anna L. Peljto et al.

Summary: This study investigated the role of rare variants, genome-wide, on the risk of idiopathic pulmonary fibrosis (IPF) using whole-genome sequencing. The results showed that rare variants within the TERT and RTEL1 genes were significantly associated with IPF, along with well-established common variants. Therefore, including TERT, RTEL1, common variants, and environmental risk factors in risk profiling and IPF therapy development is likely to have the largest impact on this complex disease.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)

Add to Collection

Article Critical Care Medicine

Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis

David Zhang et al.

Summary: Through gene burden analysis and functional studies, rare deleterious variants in KIF15 and three telomere-related genes were found to be enriched in IPF. Functional studies of KIF15 suggest its involvement in cell proliferation and IPF susceptibility.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2022)

Add to Collection

Article Critical Care Medicine

The Role of Genetic Testing in Pulmonary Fibrosis A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group

Chad A. Newton et al.

Summary: Patients with familial pulmonary fibrosis have inherited gene variation that predisposes them to the disease, and genetic testing can provide personalized assessment, recognition of clinically relevant manifestations, and evaluation of susceptibility in unaffected relatives. However, the current use of genetic testing lacks consistency and guidance on high-yield scenarios.

CHEST (2022)

Add to Collection

Article Respiratory System

Clustering of lung diseases in the family of interstitial lung disease patients

Michelle Terwiel et al.

Summary: The study found associations between familial interstitial lung disease (ILD) and non-ILD lung diseases, with self-reported emphysema and lung cancer in relatives predicting familial pulmonary fibrosis.

BMC PULMONARY MEDICINE (2022)

Add to Collection

Article Respiratory System

Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis

Richard J. Allen et al.

Summary: This article describes a genome-wide meta-analysis study on the risk of idiopathic pulmonary fibrosis (IPF), identifying five robust novel genetic association signals related to IPF risk.

THORAX (2022)

Add to Collection

Article Respiratory System

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis

David Zhang et al.

Summary: This observational cohort study utilized whole genome sequencing to estimate telomere length and assess the association of genomic factors with clinical outcomes in patients with pulmonary fibrosis. The study found that telomere length estimated through WGS correlated with other measurement methods and rare deleterious variants were associated with shorter telomere lengths. The WGS test was able to inform genetic-mediated risk and predict disease progression in pulmonary fibrosis.

EUROPEAN RESPIRATORY JOURNAL (2022)

Add to Collection

Article Biology

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Ryan S. Dhindsa et al.

Summary: Ryan Dhindsa et al. identified a rare variant in the SPDL1 gene as a risk factor for IPF through an exome-wide association study, suggesting a new mechanism involving mitotic checkpoint signalling in the disease.

COMMUNICATIONS BIOLOGY (2021)

Add to Collection

Article Critical Care Medicine

Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

Richard J. Allen et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2020)

Add to Collection

Article Oncology

KIF15 facilitates gastric cancer via enhancing proliferation, inhibiting apoptosis, and predict poor prognosis

Lixian Ding et al.

CANCER CELL INTERNATIONAL (2020)

Add to Collection

Article Multidisciplinary Sciences

Exome sequencing of Finnish isolates enhances rare-variant association power

Adam E. Locke et al.

NATURE (2019)

Add to Collection

Review Respiratory System

Clinical implications of telomere dysfunction in lung fibrosis

Maria Molina-Molina et al.

CURRENT OPINION IN PULMONARY MEDICINE (2018)

Add to Collection

Review Medicine, General & Internal

Idiopathic Pulmonary Fibrosis

David J. Lederer et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Add to Collection

Article Critical Care Medicine

Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study

Amy Dressen et al.

LANCET RESPIRATORY MEDICINE (2018)

Add to Collection

Article Critical Care Medicine

Diagnosis of Idiopathic Pulmonary Fibrosis An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline

Ganesh Raghu et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2018)

Add to Collection

Article Cell Biology

Increased KIF15 Expression Predicts a Poor Prognosis in Patients with Lung Adenocarcinoma

Yuan Qiao et al.

CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)

Add to Collection

Article Multidisciplinary Sciences

Short telomere length in IPF lung associates with fibrotic lesions and predicts survival

Reinier Snetselaar et al.

PLOS ONE (2017)

Add to Collection

Review Medicine, General & Internal

Genetics in idiopathic Pulmonary Fibrosis Pathogenesis, Prognosis, and Treatment

Amarpreet Kaur et al.

FRONTIERS IN MEDICINE (2017)

Add to Collection

Article Respiratory System

Management of suspected monogenic lung fibrosis in a specialised centre

Raphael Borie et al.

EUROPEAN RESPIRATORY REVIEW (2017)

Add to Collection

Article Respiratory System

Re-evaluation of diagnostic parameters is crucial for obtaining accurate data on idiopathic pulmonary fibrosis

Jaana Kaunisto et al.

BMC PULMONARY MEDICINE (2015)

Add to Collection

Article Medical Laboratory Technology

Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes

Rongrong Wei et al.

TRANSLATIONAL RESEARCH (2014)

Add to Collection

Article Critical Care Medicine

Idiopathic pulmonary fibrosis in US Medicare beneficiaries aged 65 years and older: incidence, prevalence, and survival, 2001-11

Ganesh Raghu et al.

LANCET RESPIRATORY MEDICINE (2014)

Add to Collection

Article Medicine, General & Internal

Association Between the MUC5B Promoter Polymorphism and Survival in Patients With Idiopathic Pulmonary Fibrosis

Anna L. Peljto et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)

Add to Collection

Article Genetics & Heredity

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Tasha E. Fingerlin et al.

NATURE GENETICS (2013)

Add to Collection

Article Multidisciplinary Sciences

Reconstruction of an Integrated Genome-Scale Co-Expression Network Reveals Key Modules Involved in Lung Adenocarcinoma

Gholamreza Bidkhori et al.

PLOS ONE (2013)

Add to Collection

Article Respiratory System

Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis

Carmel J. Stock et al.

THORAX (2013)

Add to Collection

© Peeref 2019-2024. All rights reserved.