Abstract：
:Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Typical biochemical features include high levels of plasma aldosterone and renin, hyponatremia and hyperkalemia. Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic form of the disease. Our laboratory has investigated a large number of subjects with familial and sporadic PHA1. Several different mutations have been detected, which are localized in different coding exons of the hMR gene. These mutations either create truncated proteins, either affect specific amino acids involved in receptor function. In this paper, we review hMR mutations described to date in PHA1 and their functional characterization. We discuss the absence of mutations in some kindreds and the role of precise phenotypic and biological examination of patients to allow for identification of other genes potentially involved in the disease.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Sartorato P,Khaldi Y,Lapeyraque AL,Armanini D,Kuhnle U,Salomon R,Caprio M,Viengchareun S,Lombès M,Zennaro MCdoi
10.1016/j.mce.2003.10.017keywords:
subject
Has Abstractpub_date
2004-03-31 00:00:00pages
119-25issue
1-2eissn
0303-7207issn
1872-8057pii
S0303720703003897journal_volume
217pub_type
杂志文章,评审abstract：:The relationship between ATP-induced uptake of 45Ca2+ and the ATP-induced changes in [Ca2+]i was investigated in rat FRTL-5 thyroid cells. Addition of 1 microCi 45Ca2+/ml together with ATP induced a time- and dose-dependent increase in uptake of 45Ca2+, the uptake being still significantly above control after 30 min. ...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(91)90105-2
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abstract：:Glucocorticoid hormones suppress circulating concentrations of thyrotrophin (TSH), but their effect on synthesis of TSH in the pituitary gland is unclear. We have examined the influence of the glucocorticoid dexamethasone on serum TSH, pituitary TSH content and TSH beta- and alpha-subunit mRNA concentrations in pituit...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(89)90064-6
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90218-u
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90005-q
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abstract：:Evidence that transforming growth factor-beta (TGF beta) is produced by porcine thecal cells and acts upon porcine granulosa cells suggests that this peptide may be a local regulator of follicular function in this species. The objective of the present study was to investigate the effects of TGF beta on steroidogenesis...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90131-o
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90101-b
更新日期：1992-12-01 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(88)90056-1
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/s0303-7207(99)00051-9
更新日期：1999-05-25 00:00:00
abstract：:We used murine Ba/F3 cells transfected with human growth hormone receptor (hGHR) cDNA to investigate the regulatory mechanisms of human growth hormone-binding protein (hGH-BP) release. The extracellular domain of hGHRs were cleaved and released as hGH-BPs (a soluble form of hGHR). The hGH-BP release was enhanced by ph...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(01)00583-4
更新日期：2001-09-01 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2004.07.013
更新日期：2004-10-29 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90256-6
更新日期：1992-06-01 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2013.01.001
更新日期：2013-07-05 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2013.09.008
更新日期：2014-01-25 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2007.08.010
更新日期：2008-05-14 00:00:00
abstract：:Luteinized intrasplenic ovarian tumors develop in response to high circulating gonadotropins. The relationship between tumor development, gonadotropins and inhibins was studied. Tumor-bearing animals were sacrificed weekly along the first 6 weeks of development. Inhibins were measured by enzyme-linked immunosorbent as...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(03)00085-6
更新日期：2003-05-30 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90172-3
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(92)90205-k
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2018.01.014
更新日期：2018-09-15 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2008.10.046
更新日期：2009-03-05 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(97)00218-9
更新日期：1997-12-31 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/s0303-7207(99)00067-2
更新日期：1999-06-25 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2010.01.003
更新日期：2010-05-05 00:00:00
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journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/0303-7207(91)90269-x
更新日期：1991-04-01 00:00:00
abstract：:Men have had a substantially higher risk of developing bladder cancer than women. This has prompted research on androgen-mediated androgen receptor (AR) signaling in urothelial cancer. Indeed, increasing preclinical evidence indicates that AR activation correlates with the promotion of urothelial carcinogenesis and tu...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章,评审
doi：10.1016/j.mce.2017.06.021
更新日期：2018-04-15 00:00:00
abstract：:Mutations in FGFR1, GNRHR, PROK2, PROKR2, TAC3, or TACR3 underlie isolated hypogonadotropic hypogonadism (IHH) with clinically variable phenotypes, and, by causing incomplete intrauterine activation of the hypothalamic-pituitary-gonadal axis, may lead to cryptorchidism. To investigate the role of defects in these gene...
journal_title：Molecular and cellular endocrinology
pub_type： 杂志文章
doi：10.1016/j.mce.2011.05.015
更新日期：2011-07-20 00:00:00
