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Simon H Jiang

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Citations 344
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Recent Articles
1.
Medhavy A, Athanasopoulos V, Bassett K, He Y, Stanley M, Enosi Tuipulotu D, et al.
Nat Immunol . 2024 Jul; 25(9):1678-1691. PMID: 39060650
Whole-exome sequencing of two unrelated kindreds with systemic autoimmune disease featuring antinuclear antibodies with IgG4 elevation uncovered an identical ultrarare heterozygous TNIP1 variant segregating with disease. Mice with the orthologous...
2.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo A, et al.
Sci Adv . 2023 Dec; 9(49):eadi9566. PMID: 38055819
Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 () cause immune dysregulation with autoimmunity, immunodeficiency and lymphoproliferation (IDAIL). Incomplete penetrance and variable expressivity are characteristic of IDAIL...
3.
Chan J, Walters G, Puri P, Jiang S
BMC Rheumatol . 2023 Oct; 7(1):37. PMID: 37807057
Background: To determine the safety and efficacy of biological agents used in the treatment of systemic lupus erythematosus (SLE) in adults. Methods: Systematic review and meta-analysis following PRISMA guidelines. Data...
4.
Nambadan S, Stanley M, Zhang Y, Athanasopoulos V, Jiang S
STAR Protoc . 2022 May; 3(2):101375. PMID: 35600919
Accumulation of immunoglobulin and complement components within the kidneys is a hallmark of glomerulonephritis. Staining and detection of IgG, IgA, IgM, and C3 deposits can assist in diagnosing the underlying...
5.
Jiang S, Mercan S, Papa I, Moldovan M, Walters G, Koina M, et al.
Cell Rep Med . 2022 Jan; 2(12):100475. PMID: 35028616
We identify an intronic deletion in that predisposes to renal injury in high risk populations through a kidney-intrinsic process. Half of all SLE patients develop nephritis, yet the predisposing mechanisms...
6.
Lea-Henry T, Chuah A, Stanley M, Athanasopoulos V, Starkey M, Christiadi D, et al.
Lupus . 2021 Jul; 30(11):1756-1763. PMID: 34266320
Objective: To compare the frequency of rare variants in genes of the pathophysiologically relevant endosomal Toll-like receptor (eTLR) pathway and any quantifiable differences in variant rarity, predicted deleteriousness, or molecular...
7.
Hercz D, Jiang S, Webster A
Cochrane Database Syst Rev . 2020 Dec; 12:CD011393. PMID: 33283264
Background: Itch in patients with chronic kidney disease (CKD) is common, often very distressing and associated with depression, reduced quality of life, and increased death. The most common first-line treatment...
8.
Easteal S, Arkell R, Balboa R, Bellingham S, Brown A, Calma T, et al.
Am J Hum Genet . 2020 Aug; 107(2):175-182. PMID: 32763188
Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations,...
9.
McKeon K, Jiang S
Aust Prescr . 2020 Jul; 43(3):85-90. PMID: 32675909
Systemic lupus erythematosus should be suspected in individuals with one or more classic symptoms. Diagnosis is made clinically and supported by serology Reducing sun exposure is central to the management...
10.
Jiang S, Stanley M, Vinuesa C
Immunol Cell Biol . 2020 Apr; 98(6):490-499. PMID: 32315078
Autoimmune disease is a substantial cause of morbidity and is strongly influenced by genetic risk. Extensive efforts have characterized the overall genetic basis of many autoimmune diseases, typically by investigation...