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Items: 1 to 20 of 94

1.

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K, et al.

Biochem Biophys Res Commun. 1992 Jan 31;182(2):974-9. Erratum in: Biochem Biophys Res Commun 1992 May 15;184(3):1529-30.

PMID:
1346492
2.

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.

Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, et al.

Biochem Biophys Res Commun. 1993 Feb 15;190(3):864-9.

PMID:
8439335
3.

Inborn errors of aldosterone biosynthesis in humans.

Shizuta Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Rösler A, Ulick S, Imura H.

Steroids. 1995 Jan;60(1):15-21.

PMID:
7792802
4.

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

Pascoe L, Curnow KM, Slutsker L, Rösler A, White PC.

Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):4996-5000.

5.

An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.

Globerman H, Rösler A, Theodor R, New MI, White PC.

N Engl J Med. 1988 Nov 3;319(18):1193-7.

PMID:
3262827
7.

CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).

Nomoto S, Massa G, Mitani F, Ishimura Y, Miyahara K, Toda K, Nagano I, Yamashiro T, Ogoshi S, Fukata J, Onishi S, Hashimoto K, Doi Y, Imura H, Shizuta Y.

Biochem Biophys Res Commun. 1997 May 19;234(2):382-5.

PMID:
9177280
8.

Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.

Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F.

Eur J Endocrinol. 2001 Jan;144(1):59-62.

9.

Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.

Geley S, Jöhrer K, Peter M, Denner K, Bernhardt R, Sippell WG, Kofler R.

J Clin Endocrinol Metab. 1995 Feb;80(2):424-9.

PMID:
7852500
10.

The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity.

Miyahara K, Kawamoto T, Mitsuuchi Y, Toda K, Imura H, Gordon RD, Shizuta Y.

Biochem Biophys Res Commun. 1992 Dec 15;189(2):885-91.

PMID:
1472060
11.

Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL.

Am J Hum Genet. 1995 Nov;57(5):1037-43.

12.

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.

Peter M, Fawaz L, Drop SL, Visser HK, Sippell WG.

J Clin Endocrinol Metab. 1997 Nov;82(11):3525-8.

PMID:
9360501
13.

Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.

Fardella CE, Hum DW, Rodriguez H, Zhang G, Barry FL, Ilicki A, Bloch CA, Miller WL.

J Clin Endocrinol Metab. 1996 Jan;81(1):321-6.

PMID:
8550772
14.

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.

Ulick S, Wang JZ, Morton DH.

J Clin Endocrinol Metab. 1992 Jun;74(6):1415-20.

PMID:
1592889
15.

Congenital hypoaldosteronism: the Visser-Cost syndrome revisited.

Peter M, Sippell WG.

Pediatr Res. 1996 Mar;39(3):554-60.

PMID:
8929880
16.

Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.

Peter M, Nikischin W, Heinz-Erian P, Fussenegger W, Kapelari K, Sippell WG.

Horm Res. 1998;50(4):222-5.

PMID:
9838244
17.

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

Peter M, Bünger K, Sólyom J, Sippell WG.

Eur J Pediatr. 1998 May;157(5):378-81.

PMID:
9625333
18.

Molecular genetic studies on the biosynthesis of aldosterone in humans.

Shizuta Y, Kawamoto T, Mitsuuchi Y, Toda K, Miyahara K, Ichikawa Y, Imura H, Ulick S.

J Steroid Biochem Mol Biol. 1992 Dec;43(8):981-7. doi: 10.1016/0960-0760(92)90326-E.

PMID:
22217843
19.

A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.

Kuribayashi I, Kuge H, Santa RJ, Mutlaq AZ, Yamasaki N, Furuno T, Takahashi A, Chida S, Nakamura T, Endo F, Doi Y, Onishi S, Shizuta Y.

Horm Res. 2003;60(5):255-60.

PMID:
14614232
20.

Multisteroid analysis in children with terminal aldosterone biosynthesis defects.

Peter M, Partsch CJ, Sippell WG.

J Clin Endocrinol Metab. 1995 May;80(5):1622-7.

PMID:
7745009

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