Results 131 to 140 of about 19,474 (186)

17α-hydroxylase deficiency with a novel <i>CYP17A1</i> mutation: a case report. [PDF]

Transl Pediatr
Li JB, Xiao Y, Jiang SQ, Luo XY, Zhang HR, Sun J, Shi WH, Yang Y, Wang W.   +8 more
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Development of semi-dwarf Echinacea purpurea by inducing silencing of the endogenous brassinosteroid-biosynthetic gene DWF4. [PDF]

BMC Plant Biol
Zhao J, Liu J, He Y, Fu Y.
europepmc   +1 more source

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient. [PDF]

Reports (MDPI)
Krzyścin M, Brodowska A, Furtak G, Pietrzyk D, Zając K, Oder B, Przepiera A, Sowińska-Przepiera E.   +7 more
europepmc   +1 more source

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Molecular Cloning of Steroid 21-Hydroxylase

Endocrine Research, 1984
Congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OH deficiency and always carries a null allele at the complement C4A (Rodgers) locus. It seemed likely that this haplotype carries a deletion encompassing both the C4A and 21-OH loci. We hypothesized that
P C, White, B, Dupont, M I, New
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Mutations in Steroid 21-Hydroxylase (CYP21)

Human Mutation, 1994
The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes ...
P C, White, M T, Tusie-Luna, M I, New, P W, Speiser   +3 more
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Steroid 21-Hydroxylase Deficiency in Mice*

Endocrinology, 1988
The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
H, Gotoh, T, Sagai, J, Hata, T, Shiroishi, K, Moriwaki   +4 more
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Bovine steroid 21-hydroxylase: regulation of biosynthesis

Biochemistry, 1986
A recombinant cDNA clone, PBC21-1, specific for bovine steroid 21-hydroxylase cytochrome P-450 (P-450C21) was identified in a bovine adrenocortical cDNA library, and this identity was confirmed by nucleotide sequencing which revealed significant amino acid homology (77%) with human P-450C21 cDNA.
M E, John, T, Okamura, A, Dee, B, Adler, M C, John, P C, White, E R, Simpson, M R, Waterman   +7 more
openaire   +2 more sources