Literature DB >> 6323666

Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3',5'-monophosphate in response to antidiuretic hormone.

T Ohzeki, T Igarashi, A Okamoto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6323666     DOI： 10.1016/s0022-3476(84)80556-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  8 in total

1.  Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.

Authors:  M Kuwahara; K Iwai; T Ooeda; T Igarashi; E Ogawa; Y Katsushima; I Shinbo; S Uchida; Y Terada; M F Arthus; M Lonergan; T M Fujiwara; D G Bichet; F Marumo; S Sasaki
Journal:  Am J Hum Genet       Date:  2001-08-30       Impact factor: 11.025

Review 2.  Discovery of aquaporins: a breakthrough in research on renal water transport.

Authors:  A F van Lieburg; N V Knoers; P M Deen
Journal:  Pediatr Nephrol       Date:  1995-04       Impact factor: 3.714

3.  A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.

Authors:  Yasuko Fujisawa; Takeshi Miyamoto; Kyo Furuhashi; Shinichiro Sano; Yuichi Nakagawa; Takehiko Ohzeki
Journal:  Pediatr Nephrol       Date:  2004-03-30       Impact factor: 3.714

Review 4.  Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

Authors:  A F van Lieburg; M A Verdijk; F Schoute; M J Ligtenberg; B A van Oost; F Waldhauser; M Dobner; L A Monnens; N V Knoers
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

5.  Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.

Authors:  S Sasaki; K Fushimi; H Saito; F Saito; S Uchida; K Ishibashi; M Kuwahara; T Ikeuchi; K Inui; K Nakajima
Journal:  J Clin Invest       Date:  1994-03       Impact factor: 14.808

6.  Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Authors:  A F van Lieburg; M A Verdijk; V V Knoers; A J van Essen; W Proesmans; R Mallmann; L A Monnens; B A van Oost; C H van Os; P M Deen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

7.  Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Authors:  Daniel G Bichet; Abdulah El Tarazi; Jessica Matar; Yoann Lussier; Marie-Françoise Arthus; Michèle Lonergan; Detlef Bockenhauer; Pierre Bissonnette
Journal:  Clin Kidney J       Date:  2012-03-28

8.  Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Authors:  Ramón Peces; Rocío Mena; Carlos Peces; Fernando Santos-Simarro; Luis Fernández; Sara Afonso; Pablo Lapunzina; Rafael Selgas; Julián Nevado
Journal:  Mol Genet Genomic Med       Date:  2019-02-19       Impact factor: 2.183
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.