Literature DB >> 9452109

Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.

Y Shoji1, T Takahashi, Y Suzuki, T Suzuki, K Komatsu, H Hirono, Y Shoji1, T Yokoyama, H Kito, G Takada.   

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Year:  1998        PMID： 9452109     DOI： 10.1002/humu.1380110188

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.

Authors:  Kazuhiro Takahashi; Noriko Makita; Katsunori Manaka; Masataka Hisano; Yuko Akioka; Kenichiro Miura; Noriyuki Takubo; Atsuko Iida; Norishi Ueda; Makiko Hashimoto; Toshiro Fujita; Takashi Igarashi; Takashi Sekine; Taroh Iiri
Journal:  J Biol Chem       Date:  2011-12-05       Impact factor: 5.157

2.  Signaling Modification by GPCR Heteromer and Its Implication on X-Linked Nephrogenic Diabetes Insipidus.

Authors:  Hans K H Ng; Kaleeckal G Harikumar; Laurence J Miller; Billy K C Chow
Journal:  PLoS One       Date:  2016-09-20       Impact factor: 3.240

3.  Valine-279 Deletion-Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis.

Authors:  Ming-Chun Chen; Yu-Chao Hsiao; Chun-Chun Chang; Sheng-Feng Pan; Chih-Wen Peng; Ya-Tzu Li; Cheng-Der Liu; Je-Wen Liou; Hao-Jen Hsu
Journal:  Biomedicines       Date:  2021-03-15
  3 in total

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