Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. - Wikidata - awgldk - TriplyDB

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

http://www.wikidata.org/entity/Q35534007

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Mouse Models Recapitulating Human Adrenocortical Tumors: What Is Lacking?Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas Role of ACTH and Other Hormones in the Regulation of Aldosterone Production in Primary Aldosteronism T-Type Calcium Channel: A Privileged Gate for Calcium Entry and Control of Adrenal Steroidogenesis The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders Primary Aldosteronism: Changing Definitions and New Concepts of Physiology and Pathophysiology Both Inside and Outside the Kidney.KCNK3 Variants Are Associated With Hyperaldosteronism and Hypertension.Role of voltage-gated calcium channels in the regulation of aldosterone production from zona glomerulosa cells of the adrenal cortex.Is There a Role for Genomics in the Management of Hypertension?Molecular Heterogeneity in Aldosterone-Producing Adenomas Cav 1.3 (CACNA1D) L-type Ca(2+) channel dysfunction in CNS disorders Immunohistochemistry of the adrenal in primary aldosteronism CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.New Developments in the Genetics of Hypertension: What Should Clinicians Know?Context-dependent mechanisms modulating aldosterone signaling in the kidney.Genetics of adrenocortical tumours.Hyperaldosteronism: How to Discriminate Among Different Disease Forms?Activity-dependent regulation of T-type calcium channels by submembrane calcium ions Of channels and pumps: different ways to boost the aldosterone?Genetic screening in arterial hypertension.Role of cAMP/PKA pathway and T-type calcium channels in the mechanism of action of serotonin in human adrenocortical cells.Diagnosing endocrine hypertension: a practical approach.Hyperpolarization-activated cation and T-type calcium ion channel expression in porcine and human renal pacemaker tissues.Double adrenocortical adenomas harboring independent KCNJ5 and PRKACA somatic mutations.A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.Many Channels Lead to Aldosterone.ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.CLCN2 chloride channel mutations in familial hyperaldosteronism type II.Aging and Adrenal Aldosterone Production.Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.Aldosterone-Producing Cell Clusters Frequently Harbor Somatic Mutations and Accumulate With Age in Normal Adrenals.The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity.Clinical Characteristics of Aldosterone- and Cortisol-Coproducing Adrenal Adenoma in Primary Aldosteronism.Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.Individualized predictive signatures for 5-fluorouracil-based chemotherapy in right- and left-sided colon cancer.

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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

http://www.wikidata.org/entity/Q35534007

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2015 nî lūn-bûn

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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2015 թվականի ապրիլին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Recurrent gain of function mut ...... on with primary aldosteronism.

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Recurrent gain of function mut ...... on with primary aldosteronism.

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Recurrent gain of function mut ...... on with primary aldosteronism.

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Recurrent gain of function mut ...... on with primary aldosteronism.

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Recurrent gain of function mut ...... ion with primary aldosteronism

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Alfred A Vichot

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Anne Thiel

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Britney G Frazier

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Carol Nelson-Williams

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Christine B Sethna

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David L Bowlin

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Erin Loring

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Ivo Quack

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Lars C Rump

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Majid Rasoulpour

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P2860

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

PLINK: a tool set for whole-genome association and population-based linkage analyses

A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)

Association between genetic variation of CACNA1H and childhood absence epilepsy

Molecular physiology of low-voltage-activated t-type calcium channels

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10.7554/ELIFE.06315

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4

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Christoph Fahlke

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2015-04-24T00:00:00Z

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25907736

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