Literature DB >> 18376249

Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.

Yoshihiro Maruo1, Ishwar Chander Verma, Katsuyuki Matsui, Hiroko Takahashi, Yu Mimura, Yoriko Ota, Asami Mori, Renu Saxena, Hiroshi Sato, Yoshihiro Takeuchi.   

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Year:  2008        PMID： 18376249     DOI： 10.1097/MPG.0b013e3181638c8b

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  3 in total

Review 1.  Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects.

Authors:  Mustapha Najimi; Florence Defresne; Etienne M Sokal
Journal:  Stem Cells Transl Med       Date:  2016-05-31       Impact factor: 6.940

2.  Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.

Authors:  Ashish S Chiddarwar; Selma Z D'Silva; Roshan B Colah; Kanjaksha Ghosh; Malay B Mukherjee
Journal:  Mol Biol Rep       Date:  2018-08-13       Impact factor: 2.316

3.  Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.

Authors:  Yoshihiro Maruo; Asami Mori; Yoriko Morioka; Chihiro Sawai; Yu Mimura; Katsuyuki Matui; Yoshihiro Takeuchi
Journal:  BMC Endocr Disord       Date:  2016-01-12       Impact factor: 2.763
  3 in total

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