Associated Papers
Computing pathogenicity of mutations in human cytochrome P450 superfamily.
Mondal S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
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
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
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
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Faingelernt Y et al.
American Journal of Medical Genetics. Part A, 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
Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis.
Mukai K et al.
Current Research in Structural Biology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
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
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.
Jones ES et al.
American Journal of Hypertension, 2017
The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.
Neunzig J et al.
Endocrine Journal, 2017
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
Üstyol A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
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
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 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
Aldosterone deficiency adversely affects pregnancy outcome in mice.
Todkar A et al.
Pflugers Archiv : European Journal of Physiology, 2012
A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.
Taranta A et al.
Gene, 2012
Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphisms with gestational hypertension.
Ramírez-Salazar M et al.
Journal of Human Hypertension, 2011
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
Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function.
Holloway CD et al.
Clinical Endocrinology, 2009
Aldosterone synthase gene polymorphism is not associated with gestational hypertension or preeclampsia.
de Vasconcelos D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
[Association analysis of the essential hypertension susceptibility genes in adolescents: Kangwha study].
Suh I et al.
Journal of Preventive Medicine and Public Health = Yebang Uihakhoe Chi, 2006
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
Evidence for compromised aldosterone synthase enzyme activity in preeclampsia.
Shojaati K et al.
Kidney International, 2004
Aldosterone synthase deficiency and related disorders.
White PC
Molecular and Cellular Endocrinology, 2004
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism.
Fallo F et al.
Journal of Human Hypertension, 2004
CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study.
Matsubara M et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
Kayes-Wandover KM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasama study.
Matsubara M et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2001
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