4.7 Article

Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases

Dandan Huang et al.

Summary: VannoPortal is a comprehensive variant annotation database that integrates extensive genomic/epigenomic data and commonly used annotation databases, with rich features and visualization tools to provide comprehensive and context-specific variant annotations for biologists and clinicians.

NUCLEIC ACIDS RESEARCH (2022)

Review Genetics & Heredity

Genetics meets proteomics: perspectives for large population-based studies

Karsten Suhre et al.

Summary: The integration of genetics and plasma proteomics provides insights into human disease, revealing connections between genetic and non-genetic risk factors with clinical outcomes. Proteomic analysis offers valuable information on disease mechanisms, clinical biomarkers, and therapeutic opportunities, highlighting the potential for discovering novel drug targets and translational biomarkers through association studies.

NATURE REVIEWS GENETICS (2021)

Article Biochemistry & Molecular Biology

Ribosome pausing, a dangerous necessity for co-translational events

Martine A. Collart et al.

NUCLEIC ACIDS RESEARCH (2020)

Article Biochemistry & Molecular Biology

QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes

Zhanye Zheng et al.

NUCLEIC ACIDS RESEARCH (2020)

Article Biochemistry & Molecular Biology

The International Genome Sample Resource (IGSR) collection of open human genomic variation resources

Susan Fairley et al.

NUCLEIC ACIDS RESEARCH (2020)

Article Biochemical Research Methods

Comparison of Proteomic Assessment Methods in Multiple Cohort Studies

Laura M. Raffield et al.

PROTEOMICS (2020)

Article Multidisciplinary Sciences

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Antonio Rausell et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Article Biochemistry & Molecular Biology

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Annalisa Buniello et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

Undulating changes in human plasma proteome profiles across the lifespan

Benoit Lehallier et al.

NATURE MEDICINE (2019)

Review Pharmacology & Pharmacy

Current perspective on the role of insulin and glucagon in the pathogenesis and treatment of type 2 diabetes mellitus

Ashutosh Ojha et al.

CLINICAL PHARMACOLOGY-ADVANCES AND APPLICATIONS (2019)

Review Cell Biology

Codon optimality, bias and usage in translation and mRNA decay

Gavin Hanson et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2018)

Article Multidisciplinary Sciences

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

Barbara Piasecka et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Editorial Material Biochemistry & Molecular Biology

Unconventional mechanisms of eukaryotic protein secretion

Eleni Dimou et al.

CURRENT BIOLOGY (2018)

Review Immunology

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions

Frederic Rieux-Laucat et al.

JOURNAL OF CLINICAL IMMUNOLOGY (2018)

Article Genetics & Heredity

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

Monique G. P. van der Wijst et al.

NATURE GENETICS (2018)

Review Immunology

Human genetics of infectious diseases: Unique insights into immunological redundancy

Jean-Laurent Casanova et al.

SEMINARS IN IMMUNOLOGY (2018)

Article Medicine, General & Internal

Growth differentiation factor 15 in a community-based sample: age-dependent reference limits and prognostic impact

Steven Doerstling et al.

UPSALA JOURNAL OF MEDICAL SCIENCES (2018)

Article Multidisciplinary Sciences

Changes in global translation elongation or initiation rates shape the proteome via the Kozak sequence

Julieta M. Acevedo et al.

SCIENTIFIC REPORTS (2018)

Article Genetics & Heredity

An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

Christopher E. Gillies et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Multidisciplinary Sciences

Genomic atlas of the human plasma proteome

Benjamin B. Sun et al.

NATURE (2018)

Article Multidisciplinary Sciences

Co-regulatory networks of human serum proteins link genetics to disease

Valur Emilsson et al.

SCIENCE (2018)

Article Biochemistry & Molecular Biology

HK2 Proximal Tubule Epithelial Cells Synthesize and Secrete Plasma Proteins Predominantly Through the Apical Surface

Ke-Wei Zhao et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2017)

Editorial Material Biochemistry & Molecular Biology

The emerging biology of RNA post-transcriptional modifications

Sigrid Nachtergaele et al.

RNA BIOLOGY (2017)

Article Biochemistry & Molecular Biology

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study

Paul S. de Vries et al.

HUMAN MOLECULAR GENETICS (2017)

Article Biochemical Research Methods

Quantitative Age-specific Variability of Plasma Proteins in Healthy Neonates, Children and Adults

Stefan Bjelosevic et al.

MOLECULAR & CELLULAR PROTEOMICS (2017)

Review Biochemistry & Molecular Biology

Revisiting biomarker discovery by plasma proteomics

Philipp E. Geyer et al.

MOLECULAR SYSTEMS BIOLOGY (2017)

Review Cell Biology

Pathways of Unconventional Protein Secretion

Catherine Rabouille

TRENDS IN CELL BIOLOGY (2017)

Article Multidisciplinary Sciences

Connecting genetic risk to disease end points through the human blood plasma proteome

Karsten Suhre et al.

NATURE COMMUNICATIONS (2017)

Article Immunology

Dual Role of Fas/FasL-Mediated Signal in Peripheral Immune Tolerance

Akiko Yamada et al.

Frontiers in Immunology (2017)

Article Genetics & Heredity

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

Matthieu Deschamps et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemistry & Molecular Biology

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

William J. Astle et al.

Article Biochemistry & Molecular Biology

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

Helene Quach et al.

Article Medicine, Research & Experimental

Granulocyte macrophage colony-stimulating factor induces CCL17 pro uction via IRF4 to mediate inflammation

Adrian Achuthan et al.

JOURNAL OF CLINICAL INVESTIGATION (2016)

Article Multidisciplinary Sciences

Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

Yuetiva Deming et al.

SCIENTIFIC REPORTS (2016)

Review Immunology

Primary immunodeficiencies suggest redundancy within the human immune system

Alain Fischer et al.

SCIENCE IMMUNOLOGY (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity

Danny D. Nedialkova et al.

Article Cell Biology

Quantitative nature of overexpression experiments

Hisao Moriya

MOLECULAR BIOLOGY OF THE CELL (2015)

Article Multidisciplinary Sciences

The UK10K project identifies rare variants in health and disease

Klaudia Walter et al.

NATURE (2015)

Article Gastroenterology & Hepatology

The ABCs of Viral Hepatitis That Define Biomarker Signatures of Acute Viral Hepatitis

Darragh Duffy et al.

HEPATOLOGY (2014)

Article Biochemistry & Molecular Biology

Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency

Wing C. Lee et al.

HUMAN MOLECULAR GENETICS (2014)

Review Biochemical Research Methods

Differential expression of serum/plasma proteins in various infectious diseases: Specific or nonspecific signatures

Sandipan Ray et al.

PROTEOMICS CLINICAL APPLICATIONS (2014)

Article Multidisciplinary Sciences

Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs

Stefan Enroth et al.

NATURE COMMUNICATIONS (2014)

Review Biochemistry & Molecular Biology

High-Throughput Analysis of Plasma Hybrid Markers for Early Detection of Cancers

Jung-hyun Rho et al.

PROTEOMES (2014)

Article Immunology

CEACAM1 on activated NK cells inhibits NKG2D-mediated cytolytic function and signaling

Shuhei Hosomi et al.

EUROPEAN JOURNAL OF IMMUNOLOGY (2013)

Article Biochemistry & Molecular Biology

Progranulin directly binds to the CRD2 and CRD3 of TNFR extracellular domains

Jinlong Jian et al.

FEBS LETTERS (2013)

Review Endocrinology & Metabolism

Obesity and the risk and outcome of infection

R. Huttunen et al.

INTERNATIONAL JOURNAL OF OBESITY (2013)

Article Immunology

H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates

Mateusz Michalski et al.

IMMUNOBIOLOGY (2012)

Article Neurosciences

Progranulin regulates neuronal outgrowth independent of Sortilin

Jennifer Gass et al.

MOLECULAR NEURODEGENERATION (2012)

Article Multidisciplinary Sciences

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

Mercedes Prudencio et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Letter Gastroenterology & Hepatology

Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis

Luregn J. Schlapbach et al.

Article Biochemistry & Molecular Biology

High-Dimensional Regression and Variable Selection Using CAR Scores

Verena Zuber et al.

STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY (2011)

Article Mathematical & Computational Biology

Ensembl BioMarts: a hub for data retrieval across taxonomic space

Rhoda J. Kinsella et al.

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2011)

Review Medical Laboratory Technology

The Clinical Plasma Proteome: A Survey of Clinical Assays for Proteins in Plasma and Serum

N. Leigh Anderson

CLINICAL CHEMISTRY (2010)

Review Biochemical Research Methods

Plasma Membrane Proteomics and Its Application in Clinical Cancer Biomarker Discovery

Rikke Leth-Larsen et al.

MOLECULAR & CELLULAR PROTEOMICS (2010)

Review Biochemistry & Molecular Biology

Serine proteases of the human immune system in health and disease

Kirstin M. Heutinck et al.

MOLECULAR IMMUNOLOGY (2010)

Article Multidisciplinary Sciences

Functional Analysis of Ficolin-3 Mediated Complement Activation

Estrid Hein et al.

PLOS ONE (2010)

Article Physiology

Carcinoembryonic cell adhesion molecule 6 in human lung: regulated expression of a multifunctional type II cell protein

Venkatadri Kolla et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2009)

Review Endocrinology & Metabolism

Sexual differences in the control of energy homeostasis

Haifei Shi et al.

FRONTIERS IN NEUROENDOCRINOLOGY (2009)

Article Medicine, General & Internal

Immunodeficiency Associated with FCN3 Mutation and Ficolin-3 Deficiency

Lea Munthe-Fog et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Endocrinology & Metabolism

Ontogeny of gonadal sex steroids

Konstantin Svechnikov et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Biochemical Research Methods

GenABEL: an R library for genome-wide association analysis

Yurii S. Aulchenko et al.

BIOINFORMATICS (2007)

Article Immunology

Role of ficolin in innate immunity and its molecular basis

Yuichi Endo et al.

IMMUNOBIOLOGY (2007)

Review Infectious Diseases

Obesity and infection

Matthew E. Falagas et al.

LANCET INFECTIOUS DISEASES (2006)

Article Biochemistry & Molecular Biology

Resistin is expressed in human macrophages and directly regulated by PPARγ activators

L Patel et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)

Review Rheumatology

Prolactin production by immune cells

DW Montgomery

LUPUS (2001)