4.7 Article

Common and Distinctive Intercellular Communication Patterns in Human Obstructive and Nonobstructive Hypertrophic Cardiomyopathy

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

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

Andrew R. Harper et al.

Summary: The study identified 12 genome-wide significant susceptibility loci for HCM, showing a strong polygenic influence, especially for sarcomere-negative HCM. A genetic risk score influenced the odds of HCM and phenotypic severity in carriers of sarcomere variants. Mendelian randomization identified diastolic blood pressure as a key modifiable risk factor for sarcomere-negative HCM.

NATURE GENETICS (2021)

Article Genetics & Heredity

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Rafik Tadros et al.

Summary: The study found a strong genetic correlation between hypertrophic and dilated cardiomyopathies and left ventricular traits, with opposing genetic effects in the two cardiomyopathies. The research also supported a causal association between increased left ventricular contractility and hypertrophic cardiomyopathy risk.

NATURE GENETICS (2021)

Article Biochemistry & Molecular Biology

UniProt: the universal protein knowledgebase in 2021

Alex Bateman et al.

Summary: The UniProt Knowledgebase aims to provide users with a comprehensive, high-quality set of protein sequences annotated with functional information. Updates over the past two years have increased the number of sequences to approximately 190 million, with new methods to assess proteome completeness and quality. UniProtKB has responded to the COVID-19 pandemic by expertly curating relevant entries and making them rapidly available through a dedicated portal.

NUCLEIC ACIDS RESEARCH (2021)

Review Biochemistry & Molecular Biology

Genetic Testing in Patients with Hypertrophic Cardiomyopathy

Jiri Bonaventura et al.

Summary: Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with complex genetic basis involving mutations in multiple genes. Patients without pathogenic variants are now believed to have non-Mendelian HCM and may have a better prognosis. Identifying the genetic basis of HCM provides opportunities for understanding disease development and potential interventions.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

A method for cryopreservation and single nucleus RNA-sequencing of normal adult human interventricular septum heart tissue reveals cellular diversity and function

Amy Larson et al.

Summary: Single cell sequencing of human heart tissue is challenging due to technical difficulties and lack of standardized methods for cryopreservation. This study developed a reliable method for tissue mincing and cryopreservation, enabling high quality single nuclei RNA recovery. The method was successfully applied to normal human heart tissue, showing unexpected cellular diversity in the interventricular septum.

BMC MEDICAL GENOMICS (2021)

Editorial Material Cardiac & Cardiovascular Systems

Time to Think Differently About Sarcomere-Negative Hypertrophic Cardiomyopathy

Hugh Watkins

CIRCULATION (2021)

Review Biochemistry & Molecular Biology

Pathogenic Mechanisms of Hypertrophic Cardiomyopathy beyond Sarcomere Dysfunction

Chun Chou et al.

Summary: Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disorder with complex pathogenesis involving factors beyond sarcomere mutations. Research challenges the monogenic origin of HCM and emphasizes the importance of re-evaluating disease mechanisms.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Genetics & Heredity

Integrating single-cell and spatial transcriptomics to elucidate intercellular tissue dynamics

Sophia K. Longo et al.

Summary: Integrating single-cell RNA sequencing with spatial transcriptomics allows for the localization of transcriptionally characterized single cells within their native tissue context. While scRNA-seq identifies cell subpopulations within tissue, it does not capture their spatial distribution or reveal local networks of intercellular communication. Recent techniques like multiplexed in situ hybridization and in situ sequencing, defined as high-plex RNA imaging, can help address these limitations. However, the need for approaches to integrate single-cell and spatial data remains, given that no current method provides as complete a scope of the transcriptome as scRNA-seq.

NATURE REVIEWS GENETICS (2021)

Review Cell Biology

Innate Immune Cells in Pressure Overload-Induced Cardiac Hypertrophy and Remodeling

Xin Liu et al.

Summary: Pressure overload and heart failure are major causes of cardiovascular morbidity and mortality, where innate immune cells and inflammatory mediators play crucial roles. Different innate immune cells, including mast cells, macrophages, monocytes, neutrophils, dendritic cells, eosinophils, and natural killer T cells, exhibit varying levels of activity in these pathological processes, with some exacerbating cardiodysfunction and others displaying cardioprotective activities. Overall, immune regulation of cardiac innate immune cells holds promise as a therapeutic approach in experimental cardiac disease treatment.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Article Biochemical Research Methods

CellTalkDB: a manually curated database of ligand-receptor interactions in humans and mice

Xin Shao et al.

Summary: Cell-cell communications in multicellular organisms are essential for various biological processes and are often mediated by secreted ligand-receptor interactions. Advances in single-cell RNA sequencing have enabled the systematic investigation of cell-cell communications, with databases like CellTalkDB providing comprehensive information on ligand-receptor interaction pairs in humans and mice. This data helps further understanding of the mechanisms underlying biological processes.

BRIEFINGS IN BIOINFORMATICS (2021)

Article Cardiac & Cardiovascular Systems

Adult Monozygotic Twins With Hypertrophic Cardiomyopathy and Identical Disease Expression and Clinical Course

Barry J. Maron et al.

AMERICAN JOURNAL OF CARDIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Transcriptional and Cellular Diversity of the Human Heart

Nathan R. Tucker et al.

CIRCULATION (2020)

Article Multidisciplinary Sciences

Cells of the adult human heart

Monika Litvinukova et al.

NATURE (2020)

Article Multidisciplinary Sciences

The single-cell transcriptional landscape of mammalian organogenesis

Junyue Cao et al.

NATURE (2019)

Review Cardiac & Cardiovascular Systems

Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy JACC Review Topic of the Week

Barry J. Maron et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)

Article Mathematical & Computational Biology

PanglaoDB: a web server for exploration of mouse and human single-cell RNA sequencing data

Oscar Franzen et al.

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2019)

Article Cardiac & Cardiovascular Systems

Extracellular Matrix From Hypertrophic Myocardium Provokes Impaired Twitch Dynamics in Healthy Cardiomyocytes

Lorenzo R. Sewanan et al.

JACC-BASIC TO TRANSLATIONAL SCIENCE (2019)

Article Biotechnology & Applied Microbiology

Integrating single-cell transcriptomic data across different conditions, technologies, and species

Andrew Butler et al.

NATURE BIOTECHNOLOGY (2018)

Review Medicine, General & Internal

Clinical Course and Management of Hypertrophic Cardiomyopathy

Barry J. Maron

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Multidisciplinary Sciences

Massively parallel digital transcriptional profiling of single cells

Grace X. Y. Zheng et al.

NATURE COMMUNICATIONS (2017)

Article Multidisciplinary Sciences

A draft network of ligand-receptor-mediated multicellular signalling in human

Jordan A. Ramilowski et al.

NATURE COMMUNICATIONS (2015)

Article Biochemical Research Methods

Causal analysis approaches in Ingenuity Pathway Analysis

Andreas Kraemer et al.

BIOINFORMATICS (2014)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Cardiac & Cardiovascular Systems

Blood dendritic cell levels and phenotypic characteristics in relation to etiology of end-stage heart failure: Implications for dilated cardiomyopathy

Petros Athanassopoulos et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2009)

Article Biochemistry & Molecular Biology

Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy

Christian Geier et al.

HUMAN MOLECULAR GENETICS (2008)

Article Biochemical Research Methods

Using GOstats to test gene lists for GO term association

S. Falcon et al.

BIOINFORMATICS (2007)

Review Cell Biology

Regulation of cardiac hypertrophy by intracellular signalling pathways

Joerg Heineke et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2006)

Review Biochemistry & Molecular Biology

TGF-β signaling and the fibrotic response

A Leask et al.

FASEB JOURNAL (2004)