4.7 Article

Functional evaluation of rare OASL variants by analysis of SLE patient-derived iPSCs

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

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Pierrick Wainschtein et al.

Summary: The analysis of whole-genome sequences of 25,465 individuals of European ancestry reveals that rare variants play a significant role in the heritability of height and body mass index.

NATURE GENETICS (2022)

Article Multidisciplinary Sciences

Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability

Marcin Kierczak et al.

Summary: Despite the success of genome-wide association studies, the genetic contribution to complex traits remains unexplained. This study analyzed whole-genome sequencing data to evaluate the impact of rare genetic variants on plasma proteins. The findings suggest that rare variants have a limited contribution to heritability but may play a role in precision medicine applications.

NATURE COMMUNICATIONS (2022)

Article Rheumatology

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

Xianyong Yin et al.

Summary: This study conducted the largest genome-wide meta-analysis for SLE in East Asian populations, identifying 46 novel loci and prioritizing putative causal variants using Bayesian statistical approach. The findings highlight the power of large-scale genetic discovery in shedding light on the genetic and biological understandings of SLE.

ANNALS OF THE RHEUMATIC DISEASES (2021)

Article Multidisciplinary Sciences

Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

Yong-Fei Wang et al.

Summary: The study revealed genetic differences in SLE among ancestral groups and identified ancestry-specific susceptibility loci, with better risk prediction using matched ancestral data.

NATURE COMMUNICATIONS (2021)

Article Multidisciplinary Sciences

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Simon H. Jiang et al.

NATURE COMMUNICATIONS (2019)

Review Immunology

Monogenic lupus: Dissecting heterogeneity

Ommar Omarjee et al.

AUTOIMMUNITY REVIEWS (2019)

Article Multidisciplinary Sciences

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Ashish Dhir et al.

NATURE (2018)

Article Genetics & Heredity

Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis

Kazuyoshi Ishigaki et al.

NATURE GENETICS (2017)

Review Rheumatology

New insights into the immunopathogenesis of systemic lupus erythematosus

George C. Tsokos et al.

NATURE REVIEWS RHEUMATOLOGY (2016)

Article Biochemistry & Molecular Biology

Structural and functional analysis reveals that human OASL binds dsRNA to enhance RIG-I signaling

Mikkel Soes Ibsen et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Rheumatology

IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

Lien Van Eyck et al.

ARTHRITIS & RHEUMATOLOGY (2015)

Article Medicine, Research & Experimental

An assessment of the effects of ectopic gp91phox expression in XCGD iPSC-derived neutrophils

Huan-Ting Lin et al.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2015)

Article Multidisciplinary Sciences

Genetic and epigenetic fine mapping of causal autoimmune disease variants

Kyle Kai-How Farh et al.

NATURE (2015)

Review Medicine, General & Internal

MECHANISMS OF DISEASE Systemic Lupus Erythematosus

George C. Tsokos

NEW ENGLAND JOURNAL OF MEDICINE (2011)