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| 1 | Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome显示文摘Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common(40.9%, 63/154), followed by large/complete deletions(32.5%, 50/154) and nonsense mutations(11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients(40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients(32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia. | Meihua Wong Ying-Hsia Chu Hwei Ling Tan Hideharu Bessho Joanne Ngeow Tiffany Tang Min-Han Tan | 2016 | Chinese Journal of Cancer2016，35，9： | 3 |
| 2 | Expression analysis of anthocyanin biosynthetic genes in apple skin: Effect of UV-B and temperature显示文摘 | Benjamin Ewa Ubi Chikako Honda Hideo Bessho Satoru Kondo Masato Wada Shozo Kobayashi Takaya Moriguchi | 2005 | Plant Science2005，，3： | 2 |
| 3 | Common Variants in the Complement Factor H Gene Confer Genetic Susceptibility to Central Serous Chorioretinopathy显示文摘 | Akiko Miki Naoshi Kondo Suiho Yanagisawa Hiroaki Bessho Shigeru Honda Akira Negi | 2013 | Ophthalmology2013，，： | 2 |
| 4 | Comparison of patient acceptance of sodium phosphate versus polyethylene glycol plus sodium picosulfate for colon cleansing in Japanese显示文摘 | Naoki Hosoe Manabu Nakashita Hiroyuki Imaeda Tomohisa Sujino Rieko Bessho Riko Ichikawa Nagamu Inoue Takanori Kanai Toshifumi Hibi Haruhiko Ogata | 2012 | Journal of Gastroenterology and Hepatology2012，，10： | 2 |
| 5 | Osteoinduction by recombinant human bone morphogenetic protein-2 at intramuscular, intermuscular, subcutaneous and intrafatty sites 显示文摘 | Bessho K Fujimura K | 2000 | Int J Oral Maxillofac Surg2000，29，： | 1 |
| 6 | Prefabricated muscle flap including bone induced by recombinant human bone morphogenetic protein-2: an experimental study of ectopic osteoinduction in a rat latissimus dorsi muscle flap显示文摘 | Kusumoto K Bessho K Fujimura K | 1998 | Br J Plast Surg1998，51，4： | 1 |
| 7 | Expression analysis of anthocyanin biosynthetic genes in apple skin:effect of UV-B and temperature显示文摘 | Ubi B W Honda C Bessho H | 2006 | Plant Science2006，170，： | 1 |
| 8 | Regeneration of defectsin the articular cartilage in rabbit temporomandibular joints bybone morphogenetic protein-2 显示文摘 | Suzuki T Bessho K Fujimura K | 2002 | Br J Oral Maxillofac Surg2002，40，3： | 1 |
| 9 | A bioabsorable poly - L - lactide miniplates and screws system for osteosynthesis in oral and maxillofacial surgery显示文摘 | Bessho K Lizuka T Murakami K I | 1997 | J Oral Maxillofac Surg1997，55，： | 1 |
| 10 | Effect of sulfur content and solid- ification variables on morphology and distribution of sulfide in steel ingots 显示文摘 | Takada H Bessho I Ito T | 1976 | Tetsu-to-Hagane1976，62，10： | 1 |
| 11 | Effect of a neutrophil elas- tase inhibitor on acute lung injury after cardiopulmonary bypass显示文摘 | Fujii M Miyagi Y Bessho R | 2010 | Interact Cardiovasc Thorac Surg2010，10，6： | 1 |
| 12 | Hes genes regulate size, shape and histogenesis of the nervous system by control of the timing of neural stem cell differentiation 显示文摘 | Hatakeyama J Bessho Y Katoh K | 2004 | Development2004，131，22： | 1 |
| 13 | Comparison of bone matrix-derived bone morphogenetic proteins from various animals显示文摘 | Bessho K Tagawa T Murata M | | 0，，05： | 1 |
| 14 | Prediction of vertebral strength under loading conditions occurring in activities of daily living using a computed tomography - based nonlinear finite element method显示文摘 | MATSUMOTO T OHNISHI I BESSHO M | 2009 | Spine (Phila Pa 1976)2009，34，14： | 1 |
| 15 | Phylogenetic relationships withinTaenia taeniaeformis variants and other taeniid cestodes inferred from the nucleotide sequence of the cytochromec oxidase subunit I gene显示文摘 | M. Okamoto Y. Bessho M. Kamiya T. Kurosawa T. Horii | 1995 | Parasitology Research1995，，6： | 1 |
| 16 | Effect of Sulfur Content and Solidification Variables (m Morphology and Distribution of Sulfide ill Steel Ingots显示文摘 | TAKADA H BESSHO I ITO T | 1978 | Transaction IS1J1978，18，： | 1 |
| 17 | Bone response to plasma-sprayed hydroxyapatite and radiofrequency-sputtered calcium phosphate implants in vivo 显示文摘 | ONG J L BESSHO K CARNES D L | 2002 | Int J Oral Maxillofac Implants2002，17，4： | 1 |
| 18 | Schwannoma derived from lingual nerve occurring in floor of mouth显示文摘 | Yamamoto N lwamoto M Bessho H | 2013 | Bull tokyo dent coil2013，54，3： | 1 |
| 19 | Effect of Pt concentration on the production of hydrogen by a TiO 2 photocatalyst显示文摘 | Yasuro Ikuma Hiroaki Bessho | 2006 | International Journal of Hydrogen Energy2006，，14： | 1 |
| 20 | Counteractive effects of HGF on PDGF-induced mesangial cell proliferation in a rat model of glomerulonephritis显示文摘 | Bessho K Mizuno S Matsumoto K | 2003 | Am J Physiol Renal Physiol2003，284，6： | 1 |
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