Identification of Somatic Mutations in
CYP11B2
aldosterone
aldosterone-producing adenoma
chloride channel
mutation
primary aldosteronism
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Oct 2020
01 Oct 2020
Historique:
received:
11
04
2020
accepted:
29
09
2020
entrez:
9
10
2020
pubmed:
10
10
2020
medline:
10
10
2020
Statut:
epublish
Résumé
Somatic mutations driving aldosterone production have been identified in approximately 90% of aldosterone-producing adenomas (APAs) using an aldosterone synthase (CYP11B2) immunohistochemistry (IHC)-guided DNA sequencing approach. In the present study, using CYP11B2-guided whole-exome sequencing (WES) and targeted amplicon sequencing, we detected 2 somatic variants in
Identifiants
pubmed: 33033789
doi: 10.1210/jendso/bvaa123
pii: bvaa123
pmc: PMC7528565
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvaa123Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK106618
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL130106
Pays : United States
Informations de copyright
© Endocrine Society 2020.
Références
Hypertension. 2019 Apr;73(4):885-892
pubmed: 30739536
J Steroid Biochem Mol Biol. 2003 Nov;87(2-3):181-9
pubmed: 14672738
Nat Genet. 2018 Mar;50(3):349-354
pubmed: 29403011
J Clin Endocrinol Metab. 2005 Sep;90(9):5446-55
pubmed: 15985477
J Am Coll Cardiol. 2006 Dec 5;48(11):2293-300
pubmed: 17161262
J Clin Endocrinol Metab. 2016 May;101(5):1889-916
pubmed: 26934393
Peptides. 2015 Jan;63:22-9
pubmed: 25451331
Eur J Endocrinol. 2019 Nov;181(5):K37-K41
pubmed: 31491746
J Clin Endocrinol Metab. 2018 Oct 1;103(10):3869-3876
pubmed: 30085035
Nat Commun. 2019 Oct 15;10(1):4678
pubmed: 31615979
Endocrinology. 2003 Jun;144(6):2208-13
pubmed: 12746276
Nat Genet. 2013 Apr;45(4):440-4, 444e1-2
pubmed: 23416519
Hypertension. 2014 Aug;64(2):354-61
pubmed: 24866132
Science. 2011 Feb 11;331(6018):768-72
pubmed: 21311022
J Hypertens. 2010 Sep;28(9):1892-9
pubmed: 20683340
Nature. 2017 Aug 17;548(7667):297-303
pubmed: 28783718
Hypertension. 2019 Jun;73(6):1283-1290
pubmed: 31006333
Hypertension. 2012 Apr;59(4):833-9
pubmed: 22331379
Nat Genet. 2013 Sep;45(9):1050-4
pubmed: 23913001
Arch Intern Med. 1987 Jul;147(7):1289-93
pubmed: 3606286
Nat Genet. 2013 Sep;45(9):1055-60
pubmed: 23913004
J Clin Endocrinol Metab. 2008 Sep;93(9):3266-81
pubmed: 18552288
J Clin Endocrinol Metab. 2012 Mar;97(3):881-9
pubmed: 22238407
Eur J Endocrinol. 2018 Jan;178(1):R1-R9
pubmed: 28904009
Nat Commun. 2019 Nov 14;10(1):5155
pubmed: 31727896
Clin Exp Pharmacol Physiol. 1992 May;19(5):319-22
pubmed: 1521363
J Clin Endocrinol Metab. 2016 Mar;101(3):999-1007
pubmed: 26765578
Cell. 2015 Jul 16;162(2):454
pubmed: 28843286
Nat Genet. 2018 Mar;50(3):355-361
pubmed: 29403012
Clin Exp Pharmacol Physiol. 1991 May;18(5):283-6
pubmed: 2065471
Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):E4591-9
pubmed: 26240369
J Clin Endocrinol Metab. 2004 Mar;89(3):1045-50
pubmed: 15001583