The Regulation of Steroid Action by Sulfation and Desulfation
- Jonathan Wolf Mueller, L. Gilligan, J. Idkowiak, W. Arlt, P. Foster
- Biology, ChemistryEndocrine reviews
- 27 July 2015
The interplay between sulfatases and sulfotransferases is described, showing how their expression and regulation influences steroid action, and the role that organic anion-transporting polypeptides play in regulating intracellular steroid concentrations is addressed.
Premature adrenarche: novel lessons from early onset androgen excess.
- J. Idkowiak, G. Lavery, W. Arlt
- Medicine, BiologyEuropean Journal of Endocrinology
- 1 August 2011
The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS.
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
- N. Krone, N. Reisch, W. Arlt
- Medicine, BiologyJournal of Clinical Endocrinology and Metabolism
- 7 December 2011
The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malforms carried a major loss-of-function defect on one of the affected alleles.
Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1
- Jonathan Wolf Mueller, J. Idkowiak, W. Arlt
- Biology, ChemistryJournal of Biological Chemistry
- 9 May 2018
Findings elucidate the mechanistic basis for the selective requirement for PAPSS2 in human DHEA sulfation and show a putative binding site for SULT2A1 within the PAP SS2 APS kinase domain.
The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)
- M. Eckart, Ulf-Peter Guenther, K. von Au
- MedicinePediatrics
- 1 January 2012
The overall clinical outcome was markedly heterogeneous, but clinical scores at the age of 3 months showed a positive linear correlation with the clinical outcome at 1 year and at 4 years of age, and residual capabilities reached a plateau or even improved.
Causes, Patterns, and Severity of Androgen Excess in 1205 Consecutively Recruited Women
- Y. Elhassan, J. Idkowiak, M. O’Reilly
- MedicineJournal of Clinical Endocrinology and Metabolism
- 12 January 2018
Abstract Context Androgen excess in women is predominantly due to underlying polycystic ovary syndrome (PCOS). However, there is a lack of clarity regarding patterns and severity of androgen excess…
Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
- J. Idkowiak, S. O'Riordan, W. Arlt
- Medicine, BiologyJournal of Clinical Endocrinology and Metabolism
- 29 December 2010
Adolescents with oxidoreductase deficiency present with impaired pubertal development, manifesting in girls with hypergonadotropic hypogonadism and ovarian cysts while boys may show delayed but…
Monogenic Disorders of Adrenal Steroidogenesis
- E. Baranowski, W. Arlt, J. Idkowiak
- Biology, MedicineHormone Research in Paediatrics
- 6 June 2018
The principles of adrenal steroidogenesis are described, including the newly appreciated 11-oxygenated androgen pathway, and a description of pathophysiology, biochemistry, and clinical implications of steroidogenic disorders are described.
Polarity in the rabbit embryo.
- J. Idkowiak, G. Weisheit, C. Viebahn
- BiologySeminars in Cell and Developmental Biology
- 1 October 2004
PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
- W. Oostdijk, J. Idkowiak, W. Arlt
- Biology, MedicineJournal of Clinical Endocrinology and Metabolism
- 16 January 2015
Heterozygosity for PAPSS2 mutations can be associated with a phenotype resembling polycystic ovary syndrome and direct in vivo evidence for the significant functional impact of mutant PAP SS2 on DHEA sulfation and androgen activation is provided.
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