Cargando…

The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene

BACKGROUND: Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenital adrenal hyperplasia, another cause of salt was...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hui, Elaine, Yeung, Matthew CW, Cheung, Pik To, Kwan, Elaine, Low, Louis, Tan, Kathryn CB, Lam, Karen SL, Chan, Angel OK
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976226/ https://www.ncbi.nlm.nih.gov/pubmed/24694176 http://dx.doi.org/10.1186/1472-6823-14-29

Ejemplares similares

Molecular and Epigenetic Control of Aldosterone Synthase, CYP11B2 and 11-Hydroxylase, CYP11B1
por: Takeda, Yoshimichi, et al.
Publicado: (2023)

High glucose stimulates expression of aldosterone synthase (CYP11B2) and secretion of aldosterone in human adrenal cells
por: Shimada, Hiroki, et al.
Publicado: (2017)

LBODP025 A Novel Drug Discovery For Primary Aldosteronism Targeting Aldosterone Synthase (cyp11b2) And Kcnj5 Mutant
por: Otsubo, Yuri, et al.
Publicado: (2022)

DNA Methylation of the Angiotensinogen Gene, AGT, and the Aldosterone Synthase Gene, CYP11B2 in Cardiovascular Diseases
por: Takeda, Yoshimichi, et al.
Publicado: (2021)

Effects of ACTH, dexamethasone, and adrenalectomy on 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) gene expression in the rat central nervous system
por: Ye, Ping, et al.
Publicado: (2008)

Aldosterone Synthase Gene (CYP11B2) Polymorphism in Korean End-Stage Renal Disease Patients on Hemodialysis
por: Lee, Ji Eun, et al.
Publicado: (2009)

Association of aldosterone synthase (CYP11B2) -344 T/C polymorphism with diabetic nephropathy: A meta-analysis
por: Xu, Haiyan, et al.
Publicado: (2016)

Association of Aldosterone Synthase Polymorphism (CYP11B2 -344T>C) and Genetic Ancestry with Atrial Fibrillation and Serum Aldosterone in African Americans with Heart Failure
por: Bress, Adam, et al.
Publicado: (2013)

Preclinical and Early Clinical Profile of a Highly Selective and Potent Oral Inhibitor of Aldosterone Synthase (CYP11B2)
por: Bogman, Katrijn, et al.
Publicado: (2017)

Association of −344C/T polymorphism in the aldosterone synthase (CYP11B2) gene with cardiac and cerebrovascular events in Chinese patients with hypertension
por: Wang, Lili, et al.
Publicado: (2020)

Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan
por: Shah, Waheed Ali, et al.
Publicado: (2023)

The Role of the CYP11B2 Promoter Polymorphism in the Diagnosis of Primary Aldosteronism
por: Żukowski, Łukasz, et al.
Publicado: (2020)

Genetic Analyses of the Chimeric CYP11B1/CYP11B2 Gene in a Korean Family with Glucocorticoid-Remediable Aldosteronism
por: Lee, Ihn Suk, et al.
Publicado: (2010)

Exploration of KCNJ5 Somatic Mutation and CYP11B1/CYP11B2 Staining in Multiple Nodules in Primary Aldosteronism
por: Xie, Jing, et al.
Publicado: (2022)

Synchronous aldosterone- and cortisol-producing adrenocortical adenomas diagnosed using CYP11B immunohistochemistry
por: Stenman, Adam, et al.
Publicado: (2019)

Immunohistochemical Analysis of CYP11B2, CYP11B1 and β-catenin Helps Subtyping and Relates With Clinical Characteristics of Unilateral Primary Aldosteronism
por: Sun, Luyan, et al.
Publicado: (2021)

SUN-711 Association of Single Nucleotide Polymorphisms of CYP11B2, CYP11B1 and CYP17A1 with Primary Aldosteronism in a Multi-Ethnic Malaysian Cohort
por: Azam, Afifah, et al.
Publicado: (2020)

Allele, Genotype and Haplotype Structures of Functional Polymorphic Variants in Endothelial Nitric Oxide Synthase (eNOS), Angiotensinogen (ACE) and Aldosterone Synthase (CYP11B2) Genes in Healthy Pregnant Women of Indian Ethnicity
por: Devendran, Anichavezhi, et al.
Publicado: (2015)

The selective aldosterone synthase inhibitor Baxdrostat significantly lowers blood pressure in patients with resistant hypertension
por: Forzano, Imma, et al.
Publicado: (2022)

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism
por: Wu, Yu-Ching, et al.
Publicado: (2022)

Atractylenolide-I covalently binds to CYP11B2, selectively inhibits aldosterone synthesis, and improves hyperaldosteronism
por: Liu, Wenjuan, et al.
Publicado: (2022)

Suppressive effects of RXR agonist PA024 on adrenal CYP11B2 expression, aldosterone secretion and blood pressure
por: Suzuki, Dai, et al.
Publicado: (2017)

Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency
por: Xie, Hua, et al.
Publicado: (2022)

Aldosterone synthase inhibitors in hypertension: current status and future possibilities
por: Hargovan, Milan, et al.
Publicado: (2014)

Epigenetic Regulation of Aldosterone Synthase Gene by Sodium and Angiotensin II
por: Takeda, Yoshimichi, et al.
Publicado: (2018)

SUN-043 Epigenetic Regulation of Aldosterone Synthase Gene by Potassium
por: Takeda, Yoshiyu, et al.
Publicado: (2019)

Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis
por: Mukai, Kuniaki, et al.
Publicado: (2021)

Identification of Mineralocorticoid Receptors, Aldosterone, and Its Processing Enzyme CYP11B2 on Parasympathetic and Sympathetic Neurons in Rat Intracardiac Ganglia
por: Dehe, Lukas, et al.
Publicado: (2022)

Genetic variant of the renin-angiotensin system and prevalence of type 2 diabetes mellitus: a modest but significant effect of aldosterone synthase
por: Ichikawa, Mai, et al.
Publicado: (2014)

OR09-6 Selective and Durable Suppression of Aldosterone Production in Non-Human Primates by a Novel Aldosterone Synthase Inhibitor
por: Sparks, Steven, et al.
Publicado: (2019)

Salt-dependent Blood Pressure in Human Aldosterone Synthase-Transgenic Mice
por: Gu, Huiying, et al.
Publicado: (2017)

SAT-548 Significance of Adrenal Vein Aldosterone Gradient in the Diagnosis of Unilateral Subtype of Primary Aldosteronism
por: Ogata, Masatoshi, et al.
Publicado: (2020)

Functional Characteristic and Significance of Aldosterone-Producing Cell Clusters in Primary Aldosteronism and Age-Related Hypertension
por: Pauzi, Fatin Athirah, et al.
Publicado: (2021)

COX-2-derived PGE(2) triggers hyperplastic renin expression and hyperreninemia in aldosterone synthase-deficient mice
por: Karger, Christian, et al.
Publicado: (2018)

Different effects of progesterone and estradiol on chimeric and wild type aldosterone synthase in vitro
por: Vecchiola, Andrea, et al.
Publicado: (2013)

Relationship of Genetic Polymorphisms of Aldosterone Synthase Gene Cytochrome P450 11B2 and Mineralocorticoid Receptors with Coronary Artery Disease in Taiwan
por: Chou, Chi-Hung, et al.
Publicado: (2016)

Diverse pathological lesions of primary aldosteronism and their clinical significance
por: Nishimoto, Koshiro, et al.
Publicado: (2021)

Osteoporosis in East Asia: Current issues in assessment and management
por: Cheung, Elaine Y.N., et al.
Publicado: (2016)

SAT-069 A Case of Congenital Hypoaldosteronism Due to Aldosterone Synthase Deficiency Misdiagnosed as Classic Congenital Adrenal Hyperplasia
por: Mallappa, Ashwini, et al.
Publicado: (2019)

Urotensin II Exerts Pressor Effects By Stimulating Renin And Aldosterone Synthase Gene Expression
por: Caroccia, Brasilina, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_s9033bfboolv4t2444mbm8gv2k