Author's response to reviews Title: A Young Child with Pseudohypoaldosteronism Type II by a Mutation of Cullin 3. Authors:
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A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
BACKGROUND Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mut...
متن کاملA novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1,WNK4,CUL3, and KLHL3) have been identified to be responsible for this disease. Cullin 3 (CUL3) and KLHL3 are subunits of Cullin-RING E3 ubiquitin ligase complexes, and the serine-threonine kinases WNK1 and WNK4 are substrates of this ubiquitin ...
متن کاملMutant Cullin causes cardiovascular compromise
Mendelian hypertension is rare; however, Mendelian syndromes have taught us an amazing amount about mechanisms of distal sodium and chloride reabsorption, as well as how systemic hypertension might come about. In this issue of EMBO Molecular Medicine, Schumacher et al (2015) present a mouse model of the Cullin-3 (CUL3D403–459) mutation, which causes a form of pseudohypoaldosteronism type-2 (PHA...
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Author's response to reviews: Consent has been obtained from a parent or guardian, school administration and each child recruited in this study. This has been mentioned in 1st paragraph of the methodology section.
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