Genomes and Genes
Experts and Doctors on alleles in Hiroshima, Japan
Locale: Hiroshima, Japan
- Matsuura S, Matsumoto Y, Morishima K, Izumi H, Matsumoto H, Ito E, et al. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. Am J Med Genet A. 2006;140:358-67 pubmed..These findings indicate the involvement of BubR1 in p55cdc-mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) of BubR1 is involved in the PCS syndrome. ..
- Nakano R, Maekawa T, Abe H, Hayashida Y, Ochi H, Tsunoda T, et al. Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C. J Gen Virol. 2013;94:81-9 pubmed publisher..These results suggest that GALNT8 variants contribute to the response to IFN therapy against CHC, providing a new insight into antiviral mechanisms of IFN. ..
- Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat. 2012;33:1377-87 pubmed publisher..We describe here the first dominant mutations in the SH2 domain of STAT1, revealing the importance of this domain for tyrosine phosphorylation and DNA binding, as well as for antimycobacterial immunity. ..
- Fujimoto Y, Ochi H, Maekawa T, Abe H, Hayes C, Kumada H, et al. A single nucleotide polymorphism in activated Cdc42 associated tyrosine kinase 1 influences the interferon therapy in hepatitis C patients. J Hepatol. 2011;54:629-39 pubmed publisher..SNP rs2278034 in ACK1 is associated with IFN therapy outcome in patients with HCV. ACK1 may play a role in innate and IFN-induced antiviral action against HCV. ..
- Furuya T, Hakoda M, Ichikawa N, Higami K, Nanke Y, Yago T, et al. Associations between HLA-DRB1, RANK, RANKL, OPG, and IL-17 genotypes and disease severity phenotypes in Japanese patients with early rheumatoid arthritis. Clin Rheumatol. 2007;26:2137-2141 pubmed publisher..In addition, SNPs in RANKL and IL-17 may be associated with radiographic progression in Japanese patients with early RA. ..
- Takahashi N, Neel J. Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled. Proc Natl Acad Sci U S A. 1993;90:10725-9 pubmed..These findings verify the predicted phylogeny and provide a case study in the evolution of complexity at a genetic locus. ..
- Hayashi T, Imai K, Morishita Y, Hayashi I, Kusunoki Y, Nakachi K. Identification of the NKG2D haplotypes associated with natural cytotoxic activity of peripheral blood lymphocytes and cancer immunosurveillance. Cancer Res. 2006;66:563-70 pubmed..Individuals who are genetically predisposed to have low or high natural cytotoxic activity can in part be determined by NKG2D haplotyping, which in turn reveals an increased or decreased risk of cancer development. ..
- Mitsuta K, Yokoyama A, Kondo K, Nakajima M, Arita K, Kohno N. Polymorphism of the MUC1 mucin gene is associated with susceptibility to lung adenocarcinoma and poor prognosis. Oncol Rep. 2005;14:185-9 pubmed..These results suggest that the large MUC1 allele is associated with susceptibility to lung adenocarcinoma and poor prognosis. ..
- Aung T, Ozaki M, Lee M, Schlötzer Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993-1004 pubmed publisher..3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology. ..
- Takeichi T, Torrelo A, Lee J, Ohno Y, Lozano M, Kihara A, et al. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017;137:2344-2353 pubmed publisher..Mutations in KDSR cause defective ceramide biosynthesis, underscoring the importance of ceramide and sphingosine synthesis pathways in skin and platelet biology. ..
- Takumida M, Anniko M. Expression of transient receptor potential channel mucolipin (TRPML) and polycystine (TRPP) in the mouse inner ear. Acta Otolaryngol. 2010;130:196-203 pubmed publisher..Faint TRPP5 immunoreactivity was observed in the spiral ganglion cells and vestibular ganglion cells. ..
- Hamai Y, Matsumura S, Matsusaki K, Kitadai Y, Yoshida K, Yamaguchi Y, et al. A single nucleotide polymorphism in the 5' untranslated region of the EGF gene is associated with occurrence and malignant progression of gastric cancer. Pathobiology. 2005;72:133-8 pubmed..80, 1.98, 2.26 and 1.89, respectively). Our findings suggest that the A-G polymorphism of EGF is involved not only in the occurrence but also in the malignant progression of gastric cancer. ..
- Iwamoto K, Mizuno T, Kurata A, Masuzawa M, Mori T, Seyama T. Multiple, unique, and common p53 mutations in a thorotrast recipient with four primary cancers. Hum Pathol. 1998;29:412-6 pubmed..Moreover, homozygous aberrations were detected in a large area of normal small intestine and noncancer liver tissues suggesting that nontumor cells which harbored p53 abnormalities gained a survival advantage and clonally expanded...