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CACNA1H Calcium Channel Mutations in Primary Aldosteronism – Is Sodium the Culprit?
- Published in:
- Endocrinology, 2020, v. 161, n. 12, p. 1, doi. 10.1210/endocr/bqaa173
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- Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
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- Science Translational Medicine, 2020, v. 12, n. 556, p. 1, doi. 10.1126/scitranslmed.aay6848
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- Article
Integration of artificial intelligence and plasma steroidomics with laboratory information management systems: application to primary aldosteronism.
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- Clinical Chemistry & Laboratory Medicine, 2022, v. 60, n. 12, p. 1929, doi. 10.1515/cclm-2022-0470
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- Article
Salt-Sensitive Hypertension in GR +/− Rats Is Accompanied with Dysregulation in Adrenal Soluble Epoxide Hydrolase and Polyunsaturated Fatty Acid Pathways.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13218, doi. 10.3390/ijms222413218
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- Article
Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels.
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- Current Hypertension Reports, 2019, v. 21, n. 4, p. N.PAG, doi. 10.1007/s11906-019-0934-y
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- Article
Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
- Published in:
- Nature Genetics, 2014, v. 46, n. 7, p. 759, doi. 10.1038/ng0714-759b
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- Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
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- Nature Genetics, 2014, v. 46, n. 6, p. 613, doi. 10.1038/ng.2956
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- Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
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- Nature Genetics, 2013, v. 45, n. 9, p. 1050, doi. 10.1038/ng.2695
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- Article
Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
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- European Journal of Endocrinology, 2024, v. 190, n. 4, p. G1, doi. 10.1093/ejendo/lvae041
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- Article
CLCN2 clicks with aldosterone-producing adenomas, too!
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- European Journal of Endocrinology, 2019, v. 181, n. 5, p. C21, doi. 10.1530/EJE-19-0688
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- Article
PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases.
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- European Journal of Endocrinology, 2015, v. 172, n. 6, p. 677, doi. 10.1530/EJE-14-1113
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- Article
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06315.001
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- Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
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- 2015
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- Publication type:
- journal article
Genetic causes of primary aldosteronism.
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- Experimental & Molecular Medicine EMM, 2019, v. 51, n. 11, p. N.PAG, doi. 10.1038/s12276-019-0337-9
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- Article
Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.
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- 2017
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- journal article
A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.
- Published in:
- Nephron, 2022, v. 146, n. 4, p. 418, doi. 10.1159/000521626
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- Article
Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas.
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- Frontiers in Endocrinology, 2016, p. 1, doi. 10.3389/fendo.2016.00075
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- Article
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.
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- Clinical Endocrinology, 2015, v. 83, n. 6, p. 779, doi. 10.1111/cen.12873
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- Article
Subcellular localization of fibroblast growth factor receptor type 2 and correlation with CTNNB1 genotype in adrenocortical carcinoma.
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- BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-05110-5
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- Article
Generation of sheep with defined FecB<sup>B</sup> and TBXT mutations and porcine blastocysts with KCNJ5<sup>G151R/+</sup> mutation using prime editing.
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- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09409-y
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- Article
A novel FOXO1-mediated dedifferentiation blocking role for DKK3 in adrenocortical carcinogenesis.
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- 2017
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- Publication type:
- journal article