Cargando…

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases

INTRODUCTION: The majority of the genetic variance of systemic lupus erythematosus (SLE) remains unexplained by the common disease-common variant hypothesis. Rare variants, which are not detectable by genome-wide association studies because of their low frequencies, are predicted to explain part of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Roberts, Amy L, Thomas, Ellen RA, Bhosle, Shriram, Game, Laurence, Obraztsova, Olga, Aitman, Timothy J, Vyse, Timothy J, Rhodes, Benjamin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060450/ https://www.ncbi.nlm.nih.gov/pubmed/24886912 http://dx.doi.org/10.1186/ar4566

Ejemplares similares

ITGAM is associated with disease susceptibility and renal nephritis of systemic lupus erythematosus in Hong Kong Chinese and Thai
por: Yang, Wanling, et al.
Publicado: (2009)

The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes
por: Rhodes, Benjamin, et al.
Publicado: (2012)

Polymorphisms of the ITGAM Gene Confer Higher Risk of Discoid Cutaneous Than of Systemic Lupus Erythematosus
por: Järvinen, Tiina M., et al.
Publicado: (2010)

ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is Associated with Increased Serum Calcification Propensity
por: Halfon, Matthieu, et al.
Publicado: (2023)

ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico
por: Ramírez-Bello, Julian, et al.
Publicado: (2019)

MiR-21 binding site SNP within ITGAM associated with psoriasis susceptibility in women
por: Hruska, Pavel, et al.
Publicado: (2019)

De novo mutations implicate novel genes in systemic lupus erythematosus
por: Pullabhatla, Venu, et al.
Publicado: (2018)

Autophagy is activated in systemic lupus erythematosus and required for plasmablast development
por: Clarke, Alexander J, et al.
Publicado: (2015)

Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus
por: Odhams, Christopher A., et al.
Publicado: (2017)

Deficiency of ITGAM Attenuates Experimental Abdominal Aortic Aneurysm in Mice
por: Zhou, Min, et al.
Publicado: (2021)

Trans-Ancestral Fine-Mapping and Epigenetic Annotation as Tools to Delineate Functionally Relevant Risk Alleles at IKZF1 and IKZF3 in Systemic Lupus Erythematosus
por: Vyse, Timothy J., et al.
Publicado: (2020)

Dysregulated CD46 shedding interferes with Th1‐contraction in systemic lupus erythematosus
por: Ellinghaus, Ursula, et al.
Publicado: (2017)

Identification of MAMDC1 as a Candidate Susceptibility Gene for Systemic Lupus Erythematosus (SLE)
por: Hellquist, Anna, et al.
Publicado: (2009)

Improved monitoring of clinical response in Systemic Lupus Erythematosus by longitudinal trend in soluble vascular cell adhesion molecule-1
por: Lewis, Myles J., et al.
Publicado: (2016)

Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity
por: Chen, Lingyan, et al.
Publicado: (2020)

Cytokines in Systemic Lupus Erythematosus
por: Poole, Brian D., et al.
Publicado: (2010)

Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus
por: Cunninghame Graham, Deborah S., et al.
Publicado: (2011)

Admixture in Hispanic-Americans: Its impact on ITGAM association and implications for admixture mapping in SLE
por: Molineros, Julio E., et al.
Publicado: (2009)

TYROBP, TLR4 and ITGAM regulated macrophages polarization and immune checkpoints expression in osteosarcoma
por: Liang, Tuo, et al.
Publicado: (2021)

Characterisation of the macrophage transcriptome in glomerulonephritis-susceptible and -resistant rat strains
por: Maratou, Klio, et al.
Publicado: (2010)

Complement deficiencies and susceptibility to systemic lupus erythematosus revisited
por: Elkon, KB, et al.
Publicado: (2012)

Copy number variation in the susceptibility to systemic lupus erythematosus
por: Barbosa, Fernanda Bueno, et al.
Publicado: (2018)

Cytokines in Systemic Lupus Erythematosus 2011
por: Poole, Brian D., et al.
Publicado: (2012)

Interferon Alpha in Systemic Lupus Erythematosus
por: Niewold, Timothy B., et al.
Publicado: (2010)

The genetics of lupus: a functional perspective
por: Guerra, Sandra G, et al.
Publicado: (2012)

Transancestral mapping of the MHC region in systemic lupus erythematosus identifies new independent and interacting loci at MSH5, HLA-DPB1 and HLA-G
por: Fernando, Michelle M A, et al.
Publicado: (2012)

Common Variants within MECP2 Confer Risk of Systemic Lupus Erythematosus
por: Sawalha, Amr H., et al.
Publicado: (2008)

Extracellular Vesicle ITGAM and ITGB2 Mediate Severe Acute Pancreatitis-Related Acute Lung Injury
por: Hu, Qian, et al.
Publicado: (2023)

Evidence for an IFN-inducible gene, Ifi202, in the susceptibility to systemic lupus
por: Rozzo, S, et al.
Publicado: (2003)

Deleterious mutations predicted in the sorghum (Sorghum bicolor) Maturity (Ma) and Dwarf (Dw) genes from whole-genome resequencing
por: Grant, Nathan P., et al.
Publicado: (2023)

Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility
por: Zhao, Jian, et al.
Publicado: (2011)

Leukocyte Mitochondrial DNA Alteration in Systemic Lupus Erythematosus and Its Relevance to the Susceptibility to Lupus Nephritis
por: Lee, Hui-Ting, et al.
Publicado: (2012)

Murine Models of Systemic Lupus Erythematosus
por: Perry, Daniel, et al.
Publicado: (2011)

COVID-19 and systemic lupus erythematosus genetics: A balance between autoimmune disease risk and protection against infection
por: Wang, Yuxuan, et al.
Publicado: (2022)

Subacute Cutaneous Lupus Erythematosus Presenting as Erythroderma
por: Pai, Varadraj V, et al.
Publicado: (2014)

Lupus Erythematosus
por: Gardiner, Frederick
Publicado: (1923)

Lupus Erythematosus
por: Ravogli, A.
Publicado: (1887)

Whole-Genome Resequencing to Study Brucellosis Susceptibility in Sheep
por: Li, Xiaolong, et al.
Publicado: (2021)

Linear cutaneous lupus erythematosus/discoid lupus erythematosus in an adult
por: Mao, Qiu-Xia, et al.
Publicado: (2017)

The Impact of Genetic Susceptibility to Systemic Lupus Erythematosus on Placental Malaria in Mice
por: Waisberg, Michael, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_de7hn2aekj3nlfrnkf42qtp9kh