Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (Q37003273)

17 August 2017

1 reference

title

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

1 reference

17 August 2017

Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

29 November 2022

main subject

congenital disorder

0 references

0 references

congenital adrenal hyperplasia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

author name string

Y. Morel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

W. L. Miller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1801590

29 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1801590

29 November 2022

publication date

1 January 1991

1 reference

full work available at URL

17 August 2017

http://link.springer.com/content/pdf/10.1007/978-1-4684-5958-6_1

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Advances in human genetics

29 November 2022

published in

1 reference

17 August 2017

volume

20

1 reference

17 August 2017

page(s)

1-68

1 reference

DNA and RNA analysis of cytochrome P-450 21-hydroxylase: transcriptional activity in congenital adrenal hyperplasia

17 August 2017

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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29 November 2022

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Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification

29 November 2022

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Gene organization of haplotypes expressing two different C4A allotypes

29 November 2022

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29 November 2022

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Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

29 November 2022

158

1 reference

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Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence

29 November 2022

159

1 reference

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Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing

29 November 2022

161

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Regulation of intramitochondrial cholesterol transfer to side-chain cleavage cytochrome P-450 in rat adrenal gland

29 November 2022

163

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Genetic Recombination: Strand Transfer and Mismatch Repair

29 November 2022

165

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In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia

29 November 2022

169

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Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia

29 November 2022

170

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Abnormal sex differentiation

29 November 2022

171

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Expression of bovine cytochrome P450c17 cDNA in Saccharomyces cerevisiae.

29 November 2022

172

1 reference

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Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region

29 November 2022

173

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Bgl II restriction fragment length polymorphism of human complement C4A gene coincides with BF*F allele of factor B

29 November 2022

175

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Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

29 November 2022

176

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Effect of ACTH on cholesterol dynamics in rat adrenal tissue.

29 November 2022

178

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Cholesterol side-chain cleavage, cytochrome P450, and the control of steroidogenesis

29 November 2022

179

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21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

29 November 2022

180

1 reference

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Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

29 November 2022

181

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Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence

29 November 2022

182

1 reference

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Synteny mapping of the genes for 21 steroid hydroxylase, alpha A crystallin, and class I bovine leukocyte antigen in cattle

29 November 2022

183

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Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

29 November 2022

184

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Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

29 November 2022

185

1 reference

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Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia

29 November 2022

186

1 reference

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Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

29 November 2022

187

1 reference

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Structure of the human RD gene: a highly conserved gene in the class III region of the major histocompatibility complex

29 November 2022

188

1 reference

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Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

29 November 2022

190

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First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

29 November 2022

191

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Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase

29 November 2022

192

1 reference

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A new cluster of genes within the human major histocompatibility complex

29 November 2022

193

1 reference

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Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?

29 November 2022

195

1 reference

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Molecular pathology of congenital adrenal hyperplasia

29 November 2022

196

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Prenatal diagnosis of congenital adrenal hyperplasia

29 November 2022

197

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The double-strand-break repair model for recombination

29 November 2022

199

1 reference

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Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes

29 November 2022

201

1 reference

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Human gene encoding the 78,000-dalton glucose-regulated protein and its pseudogene: structure, conservation, and regulation

29 November 2022

202

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Extensive deletions and insertions in different MHC supratypes detected by pusled field gel electrophoresis

29 November 2022

203

1 reference

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Effect of hypophysectomy and corticotropin replacement on sterol ester hydrolase activity from rat adrenal gland

29 November 2022

205

1 reference

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Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus.

29 November 2022

208

1 reference

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Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues

29 November 2022

209

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human granulosa cells

29 November 2022

210

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

29 November 2022

212

1 reference

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Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

29 November 2022

213

1 reference

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Structure of human steroid 21-hydroxylase genes

29 November 2022

214

1 reference

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Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

29 November 2022

215

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

29 November 2022

216

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae

29 November 2022

217

1 reference

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The Regulation of Intracellular Transport of Cholesterol in Bovine Adrenal Cells: Purification of a Novel Protein

29 November 2022

221

1 reference

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Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles

29 November 2022

222

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.

29 November 2022

223

1 reference

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Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism

29 November 2022

224

1 reference

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Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells

29 November 2022

225

1 reference

https://api.crossref.org/works/10.1007/978-1-4684-5958-6_1

29 November 2022

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1801590

29 November 2022

1 reference