Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
Yazarlar (1)
Dr. Öğr. Üyesi Sevcan MERCAN Kafkas Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Cell Reports Medicine (Q1) | ||
| Dergi ISSN | 2666-3791 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 12-2021 |
| Cilt / Sayı / Sayfa | 2 / 12 / 1–10 | DOI | 10.1016/j.xcrm.2021.100475 |
| Makale Linki | doi: 10.1016/j.xcrm.2021.100475 | ||
| Özet |
| We identify an intronic deletion in VANGL1 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 to kidney damage remain poorly understood. There is limited evidence of genetic contribution to specific organ involvement in SLE.1,2 We identify a large deletion in intron 7 of Van Gogh Like 1 (VANGL1), which associates with nephritis in SLE patients. The same deletion occurs at increased frequency in an indigenous population (Tiwi Islanders) with 10-fold higher rates of kidney disease compared with non-indigenous populations. Vangl1 hemizygosity in mice results in spontaneous IgA and IgG deposition within the glomerular mesangium in the absence of autoimmune nephritis. Serum transfer into B cell-deficient Vangl1+/− mice results in mesangial IgG deposition indicating that Ig deposits occur in a … |
| Anahtar Kelimeler |
| antibody | autoimmune | chronic kidney disease | genetic | glomerulonephritis | immunoglobulin | lupus nephritis |
Science Direct
Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Google Scholar | 10 |