Share This Author
Congenital adrenal hyperplasia.
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21, which should be possible in most cases using the described strategy.
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- M. New, Moolamannil Abraham, T. Yuen
- Medicine, BiologyProceedings of the National Academy of Sciences
- 28 January 2013
By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH.
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol.
- S. Ulick, L. Levine, M. New
- Medicine, BiologyThe Journal of clinical endocrinology and…
- 1 November 1979
The decrease in the MCR permitted the maintenance of normal cortisol plasma levels and normal glucocorticoid function at a diminished rate of secretion, and serves as a biochemical marker of this hypertensive syndrome.
The myokine irisin increases cortical bone mass
- G. Colaianni, C. Cuscito, M. Grano
- BiologyProceedings of the National Academy of Sciences
- 15 September 2015
It is shown that a molecule irisin derived from skeletal muscle in response to exercise has profound effects in enhancing mass and improving the geometry and strength specifically of cortical bone, the key function of which is to resist bending and torsion.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Significance Type 1 Gaucher disease (GD1) is a rare autosomal recessive disorder caused by inherited mutations in the glucocerebrosidase (GBA1) gene. This disease results in a marked accumulation of…
Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.
- P. White, D. Grossberger, J. Strominger
- BiologyProceedings of the National Academy of Sciences…
- 1 February 1985
Two genes encoding steroid 21-hydroxylase, a cytochrome P-450 enzyme, have been located within the HLA major histocompatibility complex, and restriction mapping and hybridization analysis showed that there are two 21-OHase genes, each located near the 3' end of one of the two C4 genes.
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
- S. Andersson, W. Geissler, D. W. Russel
- Biology, MedicineThe Journal of clinical endocrinology and…
It is suggested that the common mechanism for testosterone formation in postpubertal subjects with this disorder is the conversion of circulating androstenedione to testosterone by one or more of the unaffected 17 beta-hydroxysteroid dehydrogenase isoenzymes.
Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: Results of a pilot study