Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Jan 2016

Gao Li, Emond Mary J, Louie Tin, Cheadle Chris, Berger Alan E, Rafaels Nicholas, Vergara Candelaria, Kim Yoonhee, Taub Margaret A, Ruczinski Ingo, Mathai Stephen C, Rich Stephen S, Nickerson Deborah A, Hummers Laura K, Bamshad Michael J, Hassoun Paul M, Mathias Rasika A, Barnes Kathleen C

Abstract excerpt

OBJECTIVE: To determine the contribution of rare variants as genetic modifiers of the expressivity, penetrance, and severity of systemic sclerosis (SSc). METHODS: We performed whole-exome sequencing of 78 European American patients with SSc, including 35 patients without pulmonary arterial hypertension (PAH) and 43 patients with PAH. Association testing of case-control probability for rare variants was performed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases
Share to Hypertension, Pulmonary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Odds Ratio

Share to Real-Time Polymerase Chain Reaction

Share to RNA, Messenger

Share to Scleroderma, Systemic

Share to Sequence Analysis, DNA

Share to White People

Source

Open in PubMed Open full text

Identifiers

PMID: 26473621
DOI: 10.1002/art.39449
PMCID: PMC4690763

Genes

PAH
CNGB3
HSPB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.PMID 26473621Read ↗

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.Semantic proximity Read ↗

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.Semantic proximity Read ↗

Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis CohortSemantic proximity Read ↗

Updates on genetics in systemic sclerosisSemantic proximity Read ↗

Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Semantic proximity Read ↗

Expression Quantitative Trait Locus Analysis in Systemic Sclerosis Identifies New Candidate Genes Associated With Multiple Aspects of Disease Pathology.Semantic proximity Read ↗

Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.Semantic proximity Read ↗

Unraveling the genetic component of systemic sclerosis.Semantic proximity Read ↗

Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways.Semantic proximity Read ↗

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.Semantic proximity Read ↗

Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population.Semantic proximity Read ↗

Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.