Associated Papers
Aldosterone Synthase Deficiency: A Rare Cause of Salt-Wasting Syndrome in a Child.
Barbaria W et al.
Indian Journal of Pediatrics, 2024
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2.
Gerard R et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024
Congenital hyperreninemic hypoaldosteronism: A case report.
Yupanqui ME et al.
Sage Open Medical Case Reports, 2023
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2
Turan H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature.
Lages AS et al.
Archives of Endocrinology and Metabolism, 2019
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.
Neunzig J et al.
Endocrine Journal, 2017
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.
Bizzarri C et al.
Italian Journal of Pediatrics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Disorders of aldosterone synthesis, secretion, and cellular function.
Root AW
Current Opinion in Pediatrics, 2014
[Functional analysis of +11G > A single nucleotide polymorphisms in intron 3 of human urate transporter 1 gene].
Lu J et al.
Zhonghua Nei Ke Za Zhi, 2014
Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene.
Jia M et al.
Plos One, 2014
The role of the renin-angiotensin-aldosterone system in preeclampsia: genetic polymorphisms and microRNA.
Yang J et al.
Journal of Molecular Endocrinology, 2013
[Four cases of aldosterone synthase deficiency in childhood].
Collinet E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2012
A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.
Taranta A et al.
Gene, 2012
Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.
Tin MK et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2011
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene.
Leshinsky-Silver E et al.
Hormone Research, 2006
A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.
Kharrat M et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.
Johannsen TH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme.
Bechtel S et al.
European Journal of Biochemistry, 2002
Absence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production.
Mulatero P et al.
European Journal of Endocrinology, 2001
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
Kayes-Wandover KM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M et al.
European Journal of Endocrinology, 2001
CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism.
Mulatero P et al.
Hypertension (dallas, Tex. : 1979), 2000
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
Delague V et al.
Hormone Research, 2000
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases.
López-Siguero JP et al.
Hormone Research, 1999
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
[Partial aldosterone and vasopressin deficiency syndrome as a cause of epileptiform paroxysms in homozygotic twins].
Levitskaia ZI et al.
Fiziologiia Cheloveka, 0