Improvement of Cheilitis granulomatosa after Dental Treatment

A 38-year-old male suffered from swelling of the lower lip for 3 months. Neither facial nerve palsy nor fissuring of the tongue was present. Histological examination of a biopsy taken from the lower lip revealed non-caseous epithelioid cell granulomas, suggestive of cheilitis granulomatosa. Patch testing revealed positive reactions to mercury chloride and amalgam. His symptoms markedly improved 3 months after treatment of the apical periodontitis and replacement of dental crowns. As his dental crowns did not contain mercury, we believe that the cheilitis granulomatosa may have been related to the focal dental infection

Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis

The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in the Dsg4 gene have been identified in animal models of hypotrichosis that share a characteristic phenotype called “lanceolate hair”. To date, the features of the hair-shaft anomaly in patients with LAH have not been well described. We report a Japanese patient affected with congenital hypotrichosis that was originally diagnosed as monilethrix because she had a hair-shaft abnormality that resembled moniliform hair. However, no mutations were found in the type II hair keratin genes, hHb1, hHb3, and hHb6, whose mutations cause monilethrix. Instead, we identified novel compound heterozygous mutations in the DSG4 gene of our patient. On the maternal allele is a novel S192P transition within the extracellular cadherin II domain of DSG4; on the paternal allele is a novel 2039insT mutation leading to the generation of unstable transcripts. Here we present the observation that mutations in the DSG4 gene can cause monilethrix-like congenital hypotrichosis. Based on our findings, we propose that LAH and monilethrix could overlap

Proteome analysis of human metaphase chromosomes

Susumu Uchiyama, Shouhei Kobayashi, Hideaki Takata, Takeshi Ishihara, Naoto Hori, Tsunehito Higashi, Kayoko Hayashihara, Takefumi Sone, Daisuke Higo, Takashi Nirasawa, Toshifumi Takao, Sachihiro Matsunaga, Kiichi Fukui. Proteome Analysis of Human Metaphase Chromosomes. Journal of Biological Chemistry, Volume 280, Issue 17, 2005, Pages 16994-17004. https://doi.org/10.1074/jbc.M412774200

The middle region of an HP1-binding protein, HP1-BP74, associates with linker DNA at the entry/exit site of nucleosomal DNA

Kayoko Hayashihara, Susumu Uchiyama, Shigeru Shimamoto, Shouhei Kobayashi, Miroslav Tomschik, Hidekazu Wakamatsu, Daisuke No, Hiroki Sugahara, Naoto Hori, Masanori Noda, Tadayasu Ohkubo, Jordanka Zlatanova, Sachihiro Matsunaga, Kiichi Fukui. The Middle Region of an HP1-binding Protein, HP1-BP74, Associates with Linker DNA at the Entry/Exit Site of Nucleosomal DNA. Journal of Biological Chemistry, Volume 285, Issue 9, 2010, Pages 6498-6507. https://doi.org/10.1074/jbc.M109.092833