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

Genetic Rare Variants Affecting Multiple Pathways in Japanese Patients with Palindromic Rheumatism.

The Kobe journal of medical sciences - 30 Apr 2024

Kawara Taketo, Inoue Koji, Shiozawa Shunichi, Osawa Kayo, Komai Koichiro

Abstract excerpt

Palindromic rheumatism (PR) is a type of cryptogenic paroxysmal arthritis. Several genes may be involved in PR pathogenesis; however, conducting comprehensive case-control genetic studies for PR poses challenges owing to its rarity as a disease. Moreover, case-control studies may overlook rare variants that occur infrequently but play a significant role in pathogenesis. This study aimed to identify...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis, Rheumatoid
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 38719338
DOI: 10.24546/0100489391
PMCID: PMC11086632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Rare Variants Affecting Multiple Pathways in Japanese Patients with Palindromic Rheumatism.PMID 38719338Read ↗

Identification of Distinct Genetic Profiles of Palindromic Rheumatism Using Whole-Exome Sequencing.Semantic proximity Read ↗

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Semantic proximity Read ↗

Expression of ASC splice variant found in Japanese patients with palindromic rheumatism is regulated by rs8056505 single nucleotide polymorphism and interleukin-1 beta.Semantic proximity Read ↗

The contributions of deleterious rare alleles in NLRP12 and inflammasome-related genes to polymyalgia rheumatica.Semantic proximity Read ↗

Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice.Semantic proximity Read ↗

Insights into rheumatic diseases from next-generation sequencingSemantic proximity Read ↗

Integrative Approaches to Understanding the Pathogenic Role of Genetic Variation in Rheumatic Diseases.Semantic proximity Read ↗

Common and rare variants in multifactorial susceptibility to common diseases.Semantic proximity Read ↗

[Identification of disease-susceptible genes of rheumatic diseases].Semantic proximity Read ↗

Future Directions of Genomics Research in Rheumatic Diseases.Semantic proximity Read ↗

Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Semantic proximity Read ↗

Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.Semantic proximity Read ↗

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