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| 1 | Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency显示文摘Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes:neonatal intrahepatic cholestatic hepatitis(NICCD)and adult-onset type Ⅱ citrullinemia(CTLN2).So far,we have identified 52 SLC25A13 mutations and diagnosed the patients not only in Japan(166 CTLN2 and 238 NICCD) but also in other countries.We have detected 76 Chinese,13 Korean and 15 Vietnamese patients with the same mutations as Japanese,and 13 patients(from Israel,UK,USA or Czech)with mutations different from those found in Japanese,indicating a wide distribution of citrin deficiency.DNA diagnoses of 13 known SLC25A13 mutations revealed that the carrier frequency was high in East Asian populations:Chinese(73/4 600=1/63),Japanese(21/1 372=1/65) and Korean(25/2 690=1/108),suggesting that near by 100 000 East Asians are homozygotes.It is important to find out patients with citrin deficiency,to treat them,and to prevent onset of severe CTLN2. | Keiko Kobayashi Miharu Ushtkai Yuan - Zong Song Hong - Zhi Gao Jian - Sheng Sheng Ayako Tabata Furnihiko Okumura Sayaka lkeda Takeyori Saheki | 2008 | 实用儿科临床杂志2008，23，20： | 26 |
| 2 | Hepatitis C virus enhances incidence of idiopathic pulmonary fibrosis显示文摘AIM: To investigate the cumulative development incidence and predictive factors for idiopathic pulmonary fibrosis in hepatitis C virus (HCV) positive patients. METHODS: We studied 6150 HCV infected patients who were between 40-70 years old (HCV-group). Another 2050 patients with hepatitis B virus (HBV) were selected as control (HBV-group). The mean observation period was 8.0 ± 5.9 years in HCV-group and 6.3 ± 5.5 years in HBV-group. The primary goal is the development of idiopathic pulmonary fibrosis (IPF) in both groups. The cumulative appearance rate of IPF and independent factors associated with the incidence rate of IPF were calculated using the Kaplan- Meier method and the Cox proportional hazard model. All of the studies were performed retrospectively by collecting and analyzing data from the patient records in our hospital. RESULTS: Fifteen patients in HCV-group developedIPF. On the other hand, none of the patients developed IPF in HBV-group. In HCV-group, the cumulative rates of IPF development were 0.3% at 10th year and 0.9% at 20th year. The IPF development rate in HCV-group was higher than that in HBV-group (P = 0.021). The IPF development rate in patients with HCV or HBV was high with statistical significance in the following cases: (1) patients ≥ 55 years (P < 0.001); (2) patients who had smoking index (package per day × year) of ≥ 20 (P = 0.002); (3) patients with liver cirrhosis (P = 0.042). CONCLUSION: Our results indicate that age, smoking and liver cirrhosis enhance the development of IPF in HCV positive patients. | Yasuji Arase Fumitaka Suzuki Yoshiyuki Suzuki Norio Akuta Masahiro Kobayashi Yusuke Kawamura Hiromi Yatsuji Hitomi Sezaki Tetsuya Hosaka Miharu Hirakawa Satoshi Saito Kenji Ikeda Hiromitsu Kumada | 2008 | World Journal of Gastroenterology2008，14，38： | 8 |
| 3 | Imatinib is effective for pre- vention and improvement of fibrotic fasciitis as a manifestation of chronic GVHD显示文摘 | Osunfi T Miharu M Tanaka R | 2012 | Bone Marrow Transplant2012，47，1： | 1 |
| 4 | Correlation of fetal DNA and human chorionic gonadotropin concentrations in second-trimester maternral serum显示文摘 | Ohashi Y Miharu N Honda H | 2002 | Clin Chem2002，48，2： | 1 |
| 5 | Molar DNA in maternal serum in a case of 46, XY heterozygous complete hydatidiform mole coexisting with a 46 ,XX twin live fetus显示文摘 | Hyodo M Samura O Miharu N | 2005 | Clin Chem2005，51，3： | 1 |
| 6 | High frequency of XY disomy in spermatozoa of severe oligozoospermic men 显示文摘 | Ohashi Y Miharu N Honda H | 2001 | Hum Reprod2001，16，4： | 1 |
| 7 | Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum显示文摘 | Honda H Miharu N Ohashi Y | 2002 | Hum Genet2002，110，： | 1 |
| 8 | Numerical Chromosome abnor- malities in spermatozoa of fertile and infertile men detected by fluo- rescence in situ hybridization显示文摘 | Miharu N Best RG and Young SR | 1994 | Hum Genet1994，93，： | 1 |
| 9 | Fetal gender determi- nation in early pregnancy through qualitative and quantitative a- nalysis of fetal DNA in maternal serum 显示文摘 | Honda H Miharu N Ohashi Y | 2002 | Hum Genet2002，110，1： | 1 |
| 10 | Fetal gender determination in early pregnancy through qualitative and Quantitative analysis of fetal DNA in maternal serum显示文摘 | Honda H Miharu N Ohashi Y | 2002 | Hum Genet2002，110，1： | 1 |
| 11 | Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum显示文摘 | Honda H Miharu N Ohashi Y Samura O Kinutani M Hara T | 2002 | Hum Genet2002，110，： | 1 |
| 12 | Extending Combination Therapy with Peginterferon plus Ribavirin for Genotype 2 Chronic Hepatitis C Virological Responders: A Pilot Study of 7 Cases显示文摘 | Akuta Norio Suzuki Fumitaka Arase Yasuji Hirakawa Miharu Kawamura Yusuke Yatsuji Hiromi Sezaki Hitomi Suzuki Yoshiyuki Hosaka Tetsuya Kobayashi Masahiro Kobayashi Mariko Saitoh Satoshi Ikeda Kenji Kumada Hiromitsu | 2010 | Intervirology2010，，3： | 1 |
| 13 | Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization显示文摘 | Norio Miharu Robert G. Best S. Robert Young | 1994 | Human Genetics1994，，5： | 1 |
| 14 | Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum显示文摘 | Honda H Miharu N Ohashi Y | 2001 | Clin Chem2001，47，1： | 1 |
| 15 | PCR amplification from single DNA molecules on magnetic beads in emulsion application for high-throughput screening of transcription factor targets显示文摘 | Kojima Takaaki Takei Yoshiaki Ohtsuka Miharu | 2005 | Nucleic Acids Res2005，33，17： | 1 |
| 16 | Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum显示文摘 | HONDA H MIHARU N OHASHI Y | 2002 | Hum Genet2002，110，1： | 1 |
| 17 | Quantitation of fetal DNA in maternal serum in normal and anerploid prenacies显示文摘 | Ohashi Y Miharu N Honda H | 2001 | Hum Genet2001，108，： | 1 |
| 18 | Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency显示文摘 | Ayako Tabata Jian-Sheng Sheng Miharu Ushikai Yuan-Zong Song Hong-Zhi Gao Yao-Bang Lu Fumihiko Okumura Mikio Iijima Kozo Mutoh Shosei Kishida Takeyori Saheki Keiko Kobayashi | 2008 | Journal of Human Genetics2008，，6： | 1 |
| 19 | Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization显示文摘 | Miharu N Best RG Young SR | 1994 | Hum Genet1994，93，5： | 1 |
| 20 | A mastoparan analog without lytic effects and its stimulatory mechanisms in mast cells显示文摘 | Hidehito Mukai Miharu Kikuchi Yasufumi Suzuki Eisuke Munekata | 2007 | Biochemical and Biophysical Research Communications2007，，1： | 1 |
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