A novel frameshift mutation in &lt;i&gt;NR3C2&lt;/i&gt; leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1

Sonoyama, Yuki Kawashima; Tajima, Toshihiro; Fujimoto, Masanobu; Hasegawa, Akiko; Miyahara, Naoki; Nishimura, R.; Hashida, Yuichiro; Hayashi, Atsushi; Hanaki, Keiichi; Kanzaki, Sho

doi:10.1507/endocrj.ej16-0280

Cited by 9 publications

(6 citation statements)

References 24 publications

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“…It is a transcription-dependent factor, and can bind to response elements of mineralocorticoid and interfere with the effect of aldosterone on the water and salt balance of restricted target cells. Aberrant expression of NR3C2 can lead to hypertension in pregnancy, type I pseudo-hyperaldosteronism, and chronic central serous chorioretinopathy [37]. Recent studies have shown that NR3C2 was downregulated in BC cell lines and overexpressing suppressed the proliferation, migration, and invasion of BC cells.…”

Section: Discussionmentioning

confidence: 99%

In silico analysis of differentially expressed-aberrantly methylated genes in breast cancer for prognostic and therapeutic targets

et al. 2023

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Introduction:Breast cancer (BC) is the leading cause of death among women across the globe. Abnormal gene expression plays a crucial role in tumour progression, carcinogenesis and metastasis of BC. The alteration of gene expression may be through aberrant gene methylation. In the present study, differentially expressed genes which may be regulated by DNA methylation and their pathways associated with BC have been identi ed. Methods:Expression microarray datasets GSE10780, GSE10797, GSE21422, GSE42568, GSE61304, GSE61724 and one DNA methylation pro le dataset GSE20713 were downloaded from Gene Expression Omnibus database (GEO). Differentially expressed-aberrantly methylated genes were identi ed using online Venn diagram tool. Based on fold change expression of differentially expressed-aberrantly methylated genes were chosen through heat map. Protein-protein interaction (PPI) network of the hub genes was constructed by Search Tool for the Retrieval of Interacting Genes (STRING). Gene expression and DNA methylation level of the hub genes were validated through UALCAN. Overall survival analysis of the hub genes was analysed through Kaplan Meier-plotter database for BC. Results:A total of 72 upregulated-hypomethylated genes and 92 downregulated-hypermethylated genes were

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Section: Discussionmentioning

confidence: 99%

In silico analysis of differentially expressed-aberrantly methylated genes in breast cancer for prognostic and therapeutic targets

et al. 2023

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“…MR functions impaired by NR3C2 mutations provoke salt wasting during early infancy. To the best of our knowledge, several NR3C2 gene mutations have been reported in individuals and families with PHA1, in Japan, as well as in other countries ( 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 ). Herein, we describe an infantile case of PHA1 due to a novel nonsense mutation.…”

Section: Introductionmentioning

confidence: 95%

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of <i>NR3C2</i>

Goda

Komatsu

Nozu

et al. 2020

Clin Pediatr Endocrinol

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“…In Japanese patients, several mutations have been identified and described in the literature ( Fig. 1B ) ( 21 , 22 , 23 , 24 , 25 ). Mutations are found in all exons and there is no mutation hot spot.…”

Section: Renal Form Of Pha1mentioning

confidence: 99%

“…Recently, Kawashima et al . ( 25 ) reported the c.3252delC mutation of NR3C2. This deletion, located in exon 9, changes the open reading frame following the mutation, resulting in a protein 10 amino acids longer than wild-type MR. An in vitro study demonstrated that this mutant has lost its transactivation capacity.…”

Section: Renal Form Of Pha1mentioning

confidence: 99%

Clinical features and molecular basis of pseudohypoaldosteronism type 1

Tajima¹,

Morikawa

Nakamura

2017

Clin Pediatr Endocrinol

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Abstract.Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long salt loss in multiple target tissues, such as sweat glands, salivary glands, the colonic epithelium, and the lung. In the systemic form of PHA1, life-long salt supplementation is necessary. The second type is the renal form, where aldosterone resistance is shown only in the kidney, and its inheritance is autosomal dominant. In the renal form of PHA1, salt supplementation generally becomes unnecessary by 1–3 yr of age. The third type is the secondary PHA1, which is strongly associated with urinary tract infections and/or urinary tract malformations. This review summarizes the clinical features and molecular basis of PHA1. Understanding of its pathogenesis can be helpful for the early diagnosis and clinical care of affected children with PHA1.

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A novel frameshift mutation in <i>NR3C2</i> leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1

Cited by 9 publications

References 24 publications

In silico analysis of differentially expressed-aberrantly methylated genes in breast cancer for prognostic and therapeutic targets

In silico analysis of differentially expressed-aberrantly methylated genes in breast cancer for prognostic and therapeutic targets

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of <i>NR3C2</i>

Clinical features and molecular basis of pseudohypoaldosteronism type 1

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