Molecular and clinical advances in congenital adrenal hyperplasia.
about
Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasiaMolecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectivelyNormal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locusP450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1.Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.Etiopathogenesis, classification, investigations and diagnosis in intersex disorders.Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a 10 year experience.Human chorionic gonadotropin and 8-bromo cyclic adenosine monophosphate promote an acute increase in cytochrome P450scc and adrenodoxin messenger RNAs in cultured human granulosa cells by a cycloheximide-insensitive mechanismManagement of congenital adrenal hyperplasia.The Interplay between Estrogen and Fetal Adrenal Cortex.Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH).Successful pregnancy and delivery of a patient with congenital adrenal hyperplasiaZone-specific regulation of two messenger RNAs for P450c11 in the adrenals of pregnant and nonpregnant rats.Molecular pathology of congenital adrenal hyperplasia.Defects of steroidogenesis.Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.Does primary salt wasting occur in 11-beta-hydroxylase deficiency?Function and membrane topology of wild-type and mutated cytochrome P-450c21Congenital adrenal hyperplasia in Turkey: a review of 273 patients.Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene.Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina.Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiency.
P2860
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P2860
Molecular and clinical advances in congenital adrenal hyperplasia.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
1987年论文
@zh
1987年论文
@zh-cn
name
Molecular and clinical advances in congenital adrenal hyperplasia.
@en
Molecular and clinical advances in congenital adrenal hyperplasia.
@nl
type
label
Molecular and clinical advances in congenital adrenal hyperplasia.
@en
Molecular and clinical advances in congenital adrenal hyperplasia.
@nl
prefLabel
Molecular and clinical advances in congenital adrenal hyperplasia.
@en
Molecular and clinical advances in congenital adrenal hyperplasia.
@nl
P1476
Molecular and clinical advances in congenital adrenal hyperplasia.
@en
P2093
P356
10.1016/S0022-3476(87)80334-7
P407
P577
1987-07-01T00:00:00Z