Generation of model mice using CRISPR/Cas9
Generation of model mice using CRISPR/Cas9
批准号:
16K15540
负责人:
Shinkuma Satoru
金额:
$2.25万
依托单位国家:
日本
项目类别:
Grant-in-Aid for Challenging Exploratory Research
财政年份:
2016
资助国家:
日本
项目状态:
已结题
起止时间:
2016-04-01 至 2018-03-31
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英文摘要
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A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation in the COL7A1 gene
COL7A1 基因中出现新的 c.6885_6898del14 突变的隐性营养不良性大疱性表皮松解症一例
DOI:
10.1016/j.jdermsci.2017.03.022
发表时间:
2017
期刊:
J Dermatol Sci
影响因子:
4.6
作者:
[Shinkuma S, Masunaga T, Miyawaki S, Takashima S, Natsuga K, Nomura T, Fujita Y, Nakamura H, Shimizu H]
通讯作者:
Shimizu H
Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family
新生儿大疱性皮肤松解症家族中的新 COL7A1 突变:同一家族内与 COL7A1 突变相关的表型变异
DOI:
10.1111/1346-8138.14287
发表时间:
2018
期刊:
The Journal of Dermatology
影响因子:
--
作者:
[Takashima Shota, Shinkuma Satoru, Fujita Yasuyuki, Natsuga Ken, Nomura Toshifumi, Hida Tokimasa, Ishikawa Shuku, Nakamura Hideki, Abe Riichiro, Shimizu Hiroshi]
通讯作者:
Shimizu Hiroshi
The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology
首例家族性单纯性大疱性表皮松解症,全身严重,KRT5 中 p.Asn176Ser 揭示了临床年表
DOI:
10.1111/jdv.14036
发表时间:
2017
期刊:
Journal of the European Academy of Dermatology and Venereology
影响因子:
9.2
作者:
[Sugai T, Shinkuma S, Inafuku K, Takashima S, Nomura T, Fujita Y, Nakamura H, Shimizu H]
通讯作者:
Shimizu H
A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14 mutation.
一例具有新的 c.6885_6898del14 突变的隐性营养不良性大疱性表皮松解症。
DOI:
--
发表时间:
2017
期刊:
影响因子:
--
作者:
[Satoru Shinkuma, Tae Masunaga, Saori Miyawaki, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Hideki Nakamura, Hiroshi Shimizu]
通讯作者:
Hiroshi Shimizu
Regenerative therapy using gene-edited iPS cells derived from an epidermolysis bullosa patient
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批准号:17H05089
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项目类别:Grant-in-Aid for Young Scientists (A)
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资助金额:$11.81万
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财政年份:2017
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负责人:Shinkuma Satoru
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依托单位: