Results 41 to 50 of about 26,513 (179)
Journal of Nepal Medical AssociationCongenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane +3 more
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MicrobiologyOpen, 2019 A yeast expression plasmid was constructed containing a cardenolide biosynthetic module, referred to as CARD II, using the AssemblX toolkit, which enables the assembly of large DNA constructs.
Christoph Rieck +7 more
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Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis [PDF]
Journal of Clinical and Diagnostic ResearchCongenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders that occur due to defects in steroid synthesis. It is characterised by a deficiency of adrenocortical hormones and an excess of steroid precursors.
Dinkar Yadav +3 more
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Characterization and regulation of sex-specific mouse steroid hydroxylase genes
, 1990 We characterized the genes of the male-specific mouse steroid 16α-hydroxylase (C-P-45016α) and the female-specific mouse steroid 15α-hydroxylase (P-45015α) within two distinct gene families. In spite of the high structural identities within each family,
Masahiko Negishi +6 more
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An Adrenocortical Carcinoma Case with Atypical Progress
Endocrinology Research and Practice, 2022 Adrenocortical carcinoma is a relatively rare malignant tumour, which progreses rapidly within a few months. in this report an adrenocortical carcinoma case with atypical clinical progression is presented.
Hatice Sebile Dökmetaş +5 more
doaj +2 more sources
BMC Endocrine Disorders, 2021 Background Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid ...
Zhuoguang Li +7 more
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Molecular genetics and epidemiology of steroid 21-hydroxylase deficiency. Origin of disease-causing mutations. [PDF]
, 2002 This thesis is aimed at understanding the relationship between the genetic defects that cause steroid 21-hydroxylase deficiency and the clinical phenotype, and the molecular mechanisms that create these mutations in the CYP21 gene, in a patient ...
Koppens, P.F.J.
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Structure of human steroid 21-hydroxylase genes. [PDF]
Proceedings of the National Academy of Sciences, 1986 We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10]. If this cytochrome P-450 enzyme is defective, cortisol cannot be synthesized, resulting in congenital adrenal hyperplasia. The cDNA encoding
P C, White, M I, New, B, Dupont
openaire +2 more sources
The human cytochrome P-450 21-hydroxylase genes
, 1987 Deficiency of the cytochrome P-450 steroid 21-hydroxylase (21-OHase) which causes Congenital Adrenal Hyperplasia (CAH) is a monogenic autosomal recessive disorder which is linked to HLA.
Rodrigues, N. R.
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Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome [PDF]
, 2017 The steroid profile changes dramatically from prenatal to postnatal life. Recently, a novel backdoor pathway for androgen biosynthesis has been discovered. However, its role remains elusive.
Dick, Bernhard +5 more
core +1 more source