Literature DB >> 26233954

TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q Variant.

Reem Abdwani1, Eiman Abdalla2, Safiya Al Abrawi3, Khalid Al-Thihli4.   

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Year:  2015        PMID： 26233954     DOI： 10.3899/jrheum.141240

Source DB:  PubMed          Journal:  J Rheumatol        ISSN： 0315-162X            Impact factor:   4.666


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  3 in total

1.  Evidence of digenic inheritance in autoinflammation-associated genes.

Authors:  Vassos Neocleous; Stefania Byrou; Meropi Toumba; Constantina Costi; Christos Shammas; Christina Kyriakou; Violetta Christophidou-Anastasiadou; George A Tanteles; Adamos Hadjipanayis; Leonidas A Phylactou
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

2.  C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and Immune Infiltration.

Authors:  Xianggang Wang; Guohua Yang; Qingqing Wang; Yilong Zhao; Kaixin Ding; Can Ji; Zongyuan Shi; Huaying Li; Ying Li; Shujing Li
Journal:  Dis Markers       Date:  2022-06-18       Impact factor: 3.464

3.  Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Authors:  Sylvie Grandemange; Sébastien Cabasson; Guillaume Sarrabay; Jérôme Pène; Cécile Rittore; Elodie Sanchez; Marie-Caroline Chastang; Gaël Guyon; Pascal Pillet; Isabelle Touitou
Journal:  Mol Genet Genomic Med       Date:  2017-01-14       Impact factor: 2.183
  3 in total

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