A novel missense mutation in tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) manifesting adult-onset Still disease-like skin eruptions: Report of a case and review of the Japanese patients
Germline mutations in the extracellular domains of the 55 kDa TNF receptor (TNFR1) define a family of dominantly inherited auto-inflammatory syndromes
McDermott ME, Aksentijevich I, Galon J et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor (TNFR1) define a family of dominantly inherited auto-inflammatory syndromes. Cell 1999 97 : 133 144.
A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: A new type of hidrotic ectodermal dysplasia?
Nakamura M, Ishikawa O. A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia? Br J Dermatol 2007 156 : 777 779.
A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus
Ida H, Kawasaki E, Miyashita T et al. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Rheumatology 2004 43 : 1292 1299.
Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family
Kusuhara K, Nomura A, Nakao F, Hara T. Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur J Pediatr 2004 163 : 30 2.
Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese
Horiuchi T, Tsukamoto H, Mitoma H et al. Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese. Int J Mol Med 2004 14 : 813 818.
Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family
Takagi K, Kawaguchi Y, Fujikawa S et al. Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family. Mod Rheumatol 2007 17 : 265 266.