Published in J Clin Endocrinol Metab on October 13, 2004
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 1.37
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. Proc Natl Acad Sci U S A (2013) 1.28
Why human cytochrome P450c21 is a progesterone 21-hydroxylase. Biochemistry (2011) 0.87
Biomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity? AAPS J (2007) 0.82
Biomarkers of hypothalamic-pituitary-adrenal axis activity in mice lacking 11β-HSD1 and H6PDH. J Endocrinol (2012) 0.77
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. PLoS One (2014) 0.77
Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency. J Med Biochem (2014) 0.75
Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene. Data Brief (2016) 0.75
A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods. J Biomed Sci (2009) 0.75
Structural basis of calcification inhibition by alpha 2-HS glycoprotein/fetuin-A. Formation of colloidal calciprotein particles. J Biol Chem (2003) 2.26
The IL-6/sIL-6R complex as a novel target for therapeutic approaches. Expert Opin Ther Targets (2007) 2.17
Soluble interleukin-15 receptor alpha (IL-15R alpha)-sushi as a selective and potent agonist of IL-15 action through IL-15R beta/gamma. Hyperagonist IL-15 x IL-15R alpha fusion proteins. J Biol Chem (2005) 2.01
Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine. J Neurosci (2005) 2.00
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93
Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule. J Pediatr (2003) 1.84
The nucleotide-binding oligomerization domain-like receptor NLRC5 is involved in IFN-dependent antiviral immune responses. J Immunol (2010) 1.70
Uncovering the evolutionary history of innate immunity: the simple metazoan Hydra uses epithelial cells for host defence. Dev Comp Immunol (2008) 1.55
A role for IL-27p28 as an antagonist of gp130-mediated signaling. Nat Immunol (2010) 1.44
Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels. Mol Pharmacol (2008) 1.42
Plasticity and cross-talk of interleukin 6-type cytokines. Cytokine Growth Factor Rev (2012) 1.38
PARP-10, a novel Myc-interacting protein with poly(ADP-ribose) polymerase activity, inhibits transformation. Oncogene (2005) 1.30
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Inhibition of classic signaling is a novel function of soluble glycoprotein 130 (sgp130), which is controlled by the ratio of interleukin 6 and soluble interleukin 6 receptor. J Biol Chem (2011) 1.29
Management and outcome of central precocious puberty. Clin Endocrinol (Oxf) (2002) 1.25
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet (2013) 1.23
Dynamics of the gp130 cytokine complex: a model for assembly on the cellular membrane. Protein Sci (2005) 1.23
Inhibition of hepatic fibrogenesis by matrix metalloproteinase-9 mutants in mice. FASEB J (2006) 1.23
Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A (2004) 1.21
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab (2004) 1.16
Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res (2002) 1.15
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Rev Endocr Metab Disord (2007) 1.15
Unraveling viral interleukin-6 binding to gp130 and activation of STAT-signaling pathways independently of the interleukin-6 receptor. J Virol (2009) 1.14
The matrix metalloproteinase 9 (mmp-9) hemopexin domain is a novel gelatin binding domain and acts as an antagonist. J Biol Chem (2002) 1.08
Signaling of human ciliary neurotrophic factor (CNTF) revisited. The interleukin-6 receptor can serve as an alpha-receptor for CTNF. J Biol Chem (2003) 1.04
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab (2006) 1.02
T cell recognition of desmoglein 3 peptides in patients with pemphigus vulgaris and healthy individuals. J Immunol (2004) 1.01
An interleukin-6 receptor-dependent molecular switch mediates signal transduction of the IL-27 cytokine subunit p28 (IL-30) via a gp130 protein receptor homodimer. J Biol Chem (2012) 1.01
Human beta-defensin 2 and beta-defensin 3 chimeric peptides reveal the structural basis of the pathogen specificity of their parent molecules. Antimicrob Agents Chemother (2010) 1.01
Caenopores are antimicrobial peptides in the nematode Caenorhabditis elegans instrumental in nutrition and immunity. Dev Comp Immunol (2009) 1.00
Hydramacin-1, structure and antibacterial activity of a protein from the basal metazoan Hydra. J Biol Chem (2008) 1.00
The structure of the interleukin-15 alpha receptor and its implications for ligand binding. J Biol Chem (2005) 0.99
Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function. Mol Cell Endocrinol (2006) 0.98
N-linked glycosylation is essential for the stability but not the signaling function of the interleukin-6 signal transducer glycoprotein 130. J Biol Chem (2009) 0.98
Reaction mechanism and structural model of ADP-forming Acetyl-CoA synthetase from the hyperthermophilic archaeon Pyrococcus furiosus: evidence for a second active site histidine residue. J Biol Chem (2008) 0.95
Solution structure of the pore-forming protein of Entamoeba histolytica. J Biol Chem (2004) 0.94
The human antimicrobial protein psoriasin acts by permeabilization of bacterial membranes. Dev Comp Immunol (2009) 0.93
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. J Clin Endocrinol Metab (2010) 0.93
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol (2005) 0.93
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clin Chem (2002) 0.92
Structure and mode of action of the antimicrobial peptide arenicin. Biochem J (2008) 0.92
Unusual function of the activation loop in the protein kinase DYRK1A. Biochem Biophys Res Commun (2003) 0.91
Extracellular Juxtamembrane Segment of ADAM17 Interacts with Membranes and Is Essential for Its Shedding Activity. Biochemistry (2015) 0.91
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1). J Clin Endocrinol Metab (2011) 0.91
Structure-guided optimization of the interleukin-6 trans-signaling antagonist sgp130. J Biol Chem (2008) 0.91
Viral Interleukin-6: Structure, pathophysiology and strategies of neutralization. Eur J Cell Biol (2010) 0.91
Gonadotropin-releasing hormone analogue treatment for precocious puberty. Twenty years of experience. Endocr Dev (2005) 0.90
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. J Clin Endocrinol Metab (2009) 0.90
Multimerisation of A disintegrin and metalloprotease protein-17 (ADAM17) is mediated by its EGF-like domain. Biochem Biophys Res Commun (2011) 0.90
Identification of an interleukin-15alpha receptor-binding site on human interleukin-15. J Biol Chem (2004) 0.90
The membrane-proximal domain of A Disintegrin and Metalloprotease 17 (ADAM17) is responsible for recognition of the interleukin-6 receptor and interleukin-1 receptor II. FEBS Lett (2012) 0.89
Sex hormone testosterone affects language organization in the infant brain. Neuroreport (2008) 0.89
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab (2003) 0.89
Identification of canonical tyrosine-dependent and non-canonical tyrosine-independent STAT3 activation sites in the intracellular domain of the interleukin 23 receptor. J Biol Chem (2013) 0.89
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol (2007) 0.88
Minimal interleukin 6 (IL-6) receptor stalk composition for IL-6 receptor shedding and IL-6 classic signaling. J Biol Chem (2013) 0.88
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab (2005) 0.88
Ancient weapons: the three-dimensional structure of amoebapore A. Trends Parasitol (2005) 0.88
Interleukin-6 receptor specific RNA aptamers for cargo delivery into target cells. RNA Biol (2012) 0.87
Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data. Horm Res Paediatr (2013) 0.87
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 0.87
Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol (2011) 0.87
Antimicrobial peptides and proteins of the horse--insights into a well-armed organism. Vet Res (2011) 0.86
Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res (2002) 0.86
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab (2006) 0.86
Lipid-specific membrane activity of human beta-defensin-3. Biochemistry (2006) 0.86
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control. Mol Cytogenet (2010) 0.86
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative. Int J Pediatr Endocrinol (2011) 0.86
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. J Clin Endocrinol Metab (2008) 0.86
Trans-sialidase-like sequences from Trypanosoma congolense conserve most of the critical active site residues found in other trans-sialidases. Biol Chem (2003) 0.86
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. J Pediatr Endocrinol Metab (2006) 0.86