1
|
Curnow KM, Tusie-Luna MT, Pascoe L,
Natarajan R, Gu JL, Nadler JL and White PC: The product of the
CYP11B2 gene is required for aldosterone biosynthesis in the human
adrenal cortex. Mol Endocrinol. 5:1513–1522. 1991. View Article : Google Scholar : PubMed/NCBI
|
2
|
White PC: Aldosterone synthase deficiency
and related disorders. Mol Cell Endocrinol. 217:81–87. 2004.
View Article : Google Scholar : PubMed/NCBI
|
3
|
Peter M: Congenital adrenal hyperplasia:
11beta-hydroxylase deficiency. Semin Reprod Med. 20:249–254. 2002.
View Article : Google Scholar : PubMed/NCBI
|
4
|
Kondo E, Nakamura A, Homma K, Hasegawa T,
Yamaguchi T, Narugami M, Hattori T, Aoyagi H, Ishizu K and Tajima
T: Two novel mutations of the CYP11B2 gene in a Japanese patient
with aldosterone deficiency type 1. Endocr J. 60:51–55. 2013.
View Article : Google Scholar
|
5
|
Bin-Abbas B, Al-Humaida D, Al-Sagheir A,
Qasem E, Almohanna M and Alzahrani AS: Divergent gender identity in
three siblings with 46XX karyotype and severely virilizing
congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.
Endocr Pract. 20:e191–e197. 2014. View Article : Google Scholar : PubMed/NCBI
|
6
|
Wasniewska M and De Luca F, Valenzise M,
Lombardo F and De Luca F: Aldosterone synthase deficiency type I
with no documented homozygous mutations in the CYP11B2 gene. Eur J
Endocrinol. 144:59–62. 2001. View Article : Google Scholar : PubMed/NCBI
|
7
|
Wang J, Yu T, Yin L, Li J, Yu L, Shen Y,
Yu Y, Shen Y and Fu Q: Novel mutations in the SCNN1A gene causing
Pseudohypoaldosteronism type 1. PLoS One. 8:e656762013. View Article : Google Scholar : PubMed/NCBI
|
8
|
Portrat S, Mulatero P, Curnow KM,
Chaussain JL, Morel Y and Pascoe L: Deletion hybrid genes, due to
unequal crossing over between CYP11B1 (11beta-hydroxylase) and
CYP11B2 (aldosterone synthase) cause steroid 11 beta-hydroxylase
deficiency and congenital adrenal hyperplasia. J Clin Endocrinol
Metab. 86:3197–3201. 2001.PubMed/NCBI
|
9
|
Rodrigues SM, LeDoux JE and Sapolsky RM:
The influence of stress hormones on fear circuitry. Annu Rev
Neurosci. 32:289–313. 2009. View Article : Google Scholar : PubMed/NCBI
|
10
|
Wang J, Zhang W, Jiang H, Wu BL, Primary
Ovarian and Insufficiency Collaboration: Mutations in HFM1 in
recessive primary ovarian insufficiency. N Engl J Med. 370:972–974.
2014. View Article : Google Scholar : PubMed/NCBI
|
11
|
Brown NJ: Contribution of aldosterone to
cardiovascular and renal inflammation and fibrosis. Nat Rev
Nephrol. 9:459–469. 2013. View Article : Google Scholar : PubMed/NCBI
|
12
|
Peter M, Dubuis JM and Sippell WG:
Disorders of the aldo-sterone synthase and steroid
11beta-hydroxylase deficiencies. Horm Res. 51:211–222. 1999.
View Article : Google Scholar
|
13
|
Nguyen HH, Hannemann F, Hartmann MF,
Malunowicz EM, Wudy SA and Bernhardt R: Five novel mutations in
CYP11B2 gene detected in patients with aldosterone synthase
deficiency type I: Functional characterization and structural
analyses. Mol Genet Metab. 100:357–364. 2010. View Article : Google Scholar : PubMed/NCBI
|
14
|
Ezquieta B and Luzuriaga C: Neonatal
salt-wasting and 11 beta-hydroxylase deficiency in a child carrying
a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1
(11 beta-hydroxylase). Clin Genet. 66:229–235. 2004. View Article : Google Scholar : PubMed/NCBI
|
15
|
Kondo E, Nakamura A, Homma K, Hasegawa T,
Yamaguchi T, Narugami M, Hattori T, Aoyagi H, Ishizu K and Tajima
T: Two novel mutations of the CYP11B2 gene in a Japanese patient
with aldosterone deficiency type 1. Endocr J. 60:51–55. 2013.
View Article : Google Scholar
|
16
|
Stapenhorst L: 9alpha-Fluorohydrocortisone
therapy in aldosterone synthase deficiency. Pediatr Nephrol.
20:8392005. View Article : Google Scholar : PubMed/NCBI
|
17
|
Hui E, Yeung MC, Cheung PT, Kwan E, Low L,
Tan KC, Lam KS and Chan AO: The clinical significance of
aldosterone synthase deficiency: Report of a novel mutation in the
CYP11B2 gene. BMC Endocr Disord. 14:292014. View Article : Google Scholar : PubMed/NCBI
|
18
|
Schiffer L, Anderko S, Hannemann F,
Eiden-Plach A and Bernhardt R: The CYP11B subfamily. J Steroid
Biochem Mol Biol. 151:38–51. 2015. View Article : Google Scholar
|
19
|
Nishimoto K, Nakagawa K, Li D, Kosaka T,
Oya M, Mikami S, Shibata H, Itoh H, Mitani F, Yamazaki T, et al:
Adrenocortical zonation in humans under normal and pathological
conditions. J Clin Endocrinol Metab. 95:2296–2305. 2010. View Article : Google Scholar : PubMed/NCBI
|
20
|
Wang J and Shen Y: When a “disease-causing
mutation” is not a pathogenic variant. Clin Chem. 5:711–713. 2014.
View Article : Google Scholar
|
21
|
Mamanova L, Coffey AJ, Scott CE, Kozarewa
I, Turner EH, Kumar A, Howard E, Shendure J and Turner DJ:
Target-enrichment strategies for next-generation sequencing. Nat
Methods. 7:111–118. 2010. View Article : Google Scholar : PubMed/NCBI
|