scholarly journals A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Takashi Sakoh ◽  
Akinari Sekine ◽  
Takayasu Mori ◽  
Hiroki Mizuno ◽  
Masahiro Kawada ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

scholarly journals A New Kindred With Pseudohypoaldosteronism Type II and a Novel Mutation (564D>H) in the Acidic Motif of the WNK4 Gene

Hypertension ◽  
2005 ◽  
Vol 46 (2) ◽  
pp. 295-300 ◽  
Author(s):  
Amir P. Golbang ◽  
Meena Murthy ◽  
Abbas Hamad ◽  
Che-Hsiung Liu ◽  
Georgina Cope ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

scholarly journals A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

FEBS Open Bio ◽  
2018 ◽  
Vol 8 (3) ◽  
pp. 461-469 ◽  
Author(s):  
Leping Shao ◽  
Li Cui ◽  
Jingru Lu ◽  
Yanhua Lang ◽  
Irene Bottillo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Type Ii ◽  
Aberrant Splicing ◽  
Pseudohypoaldosteronism Type Ii ◽  
Cullin 3 ◽  
Exon 9 ◽  
Pseudohypoaldosteronism Type

Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene

Nephrology ◽  
2020 ◽  
Vol 25 (11) ◽  
pp. 818-821
Author(s):  
Kiyoshi Nakano ◽  
Yasuo Kubota ◽  
Takayuki Mori ◽  
Motoko Chiga ◽  
Takayasu Mori ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Type Ii ◽  
Familial Cases ◽  
Pseudohypoaldosteronism Type Ii ◽  
Cullin 3 ◽  
Pseudohypoaldosteronism Type

A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene

Endocrine ◽  
2008 ◽  
Vol 33 (3) ◽  
pp. 230-234 ◽  
Author(s):  
Hui Gong ◽  
Zhengyi Tang ◽  
Yang Yang ◽  
Lihao Sun ◽  
Wei Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

scholarly journals A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension

2000 ◽  
Vol 67 (2) ◽  
pp. 302-310 ◽  
Author(s):  
Sandra Disse-Nicodème ◽  
Jean-Michel Achard ◽  
Isabelle Desitter ◽  
Anne-Marie Houot ◽  
Albert Fournier ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Type Ii ◽  
Dominant Form ◽  
Pseudohypoaldosteronism Type Ii ◽  
Autosomal Dominant Form ◽  
Pseudohypoaldosteronism Type

CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy

2013 ◽  
Vol 28 (9) ◽  
pp. 1881-1884 ◽  
Author(s):  
Madori Osawa ◽  
Yumi Ogura ◽  
Kiyoshi Isobe ◽  
Shinichi Uchida ◽  
Shigeaki Nonoyama ◽  
...  
Keyword(s):  
Early Intervention ◽  
Gene Analysis ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

Pseudohypoaldosteronism Type II

2009 ◽  
pp. 1744-1745
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Pseudohypoaldosteronism Type

A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis

2018 ◽  
Vol 94 (3) ◽  
pp. 514-523 ◽  
Author(s):  
Karen I. López-Cayuqueo ◽  
Maria Chavez-Canales ◽  
Alexia Pillot ◽  
Pascal Houillier ◽  
Maximilien Jayat ◽  
...  
Keyword(s):  
Mouse Model ◽  
Renal Tubular Acidosis ◽  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Renal Tubular ◽  
Pseudohypoaldosteronism Type

scholarly journals Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene

Biology Open ◽  
2015 ◽  
Vol 4 (11) ◽  
pp. 1509-1517 ◽  
Author(s):  
Y. Araki ◽  
T. Rai ◽  
E. Sohara ◽  
T. Mori ◽  
Y. Inoue ◽  
...  
Keyword(s):  
Type Ii ◽  
Pseudohypoaldosteronism Type Ii ◽  
Cullin 3 ◽  
Pseudohypoaldosteronism Type

scholarly journals KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3

2017 ◽  
Vol 37 (7) ◽  
Author(s):  
Emi Sasaki ◽  
Koichiro Susa ◽  
Takayasu Mori ◽  
Kiyoshi Isobe ◽  
Yuya Araki ◽  
...  
Keyword(s):  
Physiological Role ◽  
Hereditary Disease ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Type Ii ◽  
Dominant Type ◽  
Pseudohypoaldosteronism Type Ii ◽  
Negative Effect ◽  
Pseudohypoaldosteronism Type

ABSTRACT Mutations in the with-no-lysine kinase 1 (WNK1), WNK4, kelch-like 3 (KLHL3), and cullin3 (CUL3) genes are known to cause the hereditary disease pseudohypoaldosteronism type II (PHAII). It was recently demonstrated that this results from the defective degradation of WNK1 and WNK4 by the KLHL3/CUL3 ubiquitin ligase complex. However, the other physiological in vivo roles of KLHL3 remain unclear. Therefore, here we generated KLHL3 −/− mice that expressed β-galactosidase (β-Gal) under the control of the endogenous KLHL3 promoter. Immunoblots of β-Gal and LacZ staining revealed that KLHL3 was expressed in some organs, such as brain. However, the expression levels of WNK kinases were not increased in any of these organs other than the kidney, where WNK1 and WNK4 increased in KLHL3−/− mice but not in KLHL3+/− mice. KLHL3−/− mice also showed PHAII-like phenotypes, whereas KLHL3+/− mice did not. This clearly demonstrates that the heterozygous deletion of KLHL3 was not sufficient to cause PHAII, indicating that autosomal dominant type PHAII is caused by the dominant negative effect of mutant KLHL3. We further demonstrated that the dimerization of KLHL3 can explain this dominant negative effect. These findings could help us to further understand the physiological roles of KLHL3 and the pathophysiology of PHAII caused by mutant KLHL3.

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