Published in Mol Genet Metab on December 01, 2004
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab (2006) 1.53
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. Mol Cell Biol (2009) 1.24
DAX1: Increasing complexity in the roles of this novel nuclear receptor. Mol Cell Endocrinol (2007) 1.01
Evidence of adrenal failure in aging Dax1-deficient mice. Endocrinology (2011) 0.96
LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization. Mol Genet Metab (2007) 0.80
DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues. Horm Metab Res (2008) 0.77
Response to Lalli's comment: May the study of DAX-1 function just rely on its visualization? Cell Death Dis (2014) 0.75
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes. Int J Endocrinol (2016) 0.75
Population screening in the age of genomic medicine. N Engl J Med (2003) 3.89
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Use of electrochemical DNA biosensors for rapid molecular identification of uropathogens in clinical urine specimens. J Clin Microbiol (2006) 2.27
Deformability-based cell classification and enrichment using inertial microfluidics. Lab Chip (2011) 2.21
Social regulation of aggression by pheromonal activation of Or65a olfactory neurons in Drosophila. Nat Neurosci (2011) 1.90
Down syndrome: coercion and eugenics. Genet Med (2011) 1.82
Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis. Mol Genet Metab (2006) 1.77
Development of an advanced electrochemical DNA biosensor for bacterial pathogen detection. J Mol Diagn (2007) 1.52
Single-gene disorders: what role could moonlighting enzymes play? Am J Hum Genet (2005) 1.52
Molecular mechanisms of DAX1 action. Mol Genet Metab (2004) 1.35
Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array. Mol Genet Metab (2004) 1.31
EWS/FLI and its downstream target NR0B1 interact directly to modulate transcription and oncogenesis in Ewing's sarcoma. Cancer Res (2009) 1.17
Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations. Am J Hematol (2005) 1.16
Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol Genet Metab (2002) 1.07
Potential costs and benefits of newborn screening for severe combined immunodeficiency. J Pediatr (2005) 1.07
Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol Genet Metab (2005) 1.05
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity. Hum Mol Genet (2005) 1.01
Current estimate of Down Syndrome population prevalence in the United States. J Pediatr (2013) 0.98
Developing a national collaborative study system for rare genetic diseases. Genet Med (2008) 0.95
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice. Mol Genet Metab (2009) 0.93
Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. Mol Endocrinol (2006) 0.92
DAX1 and its network partners: exploring complexity in development. Mol Genet Metab (2003) 0.91
Conserved family of glycerol kinase loci in Drosophila melanogaster. Mol Genet Metab (2006) 0.91
Human and murine glycerol kinase: influence of exon 18 alternative splicing on function. Biochem Biophys Res Commun (2005) 0.90
Expanded newborn screening: implications for genomic medicine. Annu Rev Med (2008) 0.90
Down syndrome: issues to consider in a national registry, research database and biobank. Mol Genet Metab (2011) 0.89
Direct-to-consumer genetic testing: access and marketing. Genet Med (2004) 0.88
Genetic screening: carriers and affected individuals. Annu Rev Genomics Hum Genet (2004) 0.88
The effects of hyperglycemia on adrenal cortex function and steroidogenesis in the zebrafish. Mol Genet Metab (2010) 0.86
Down syndrome: national conference on patient registries, research databases, and biobanks. Mol Genet Metab (2011) 0.85
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. Hum Mutat (2004) 0.84
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Genet Metab (2006) 0.84
Acute leukemias in children with Down syndrome. Mol Genet Metab (2012) 0.84
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Mol Genet Metab (2006) 0.83
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat (2007) 0.82
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA. Pediatr Res (2006) 0.81
Nuclear gene variation in wild brown rats. G3 (Bethesda) (2012) 0.80
Complexity in genetic diseases: how patients inform the science by ignoring the dogma. Am J Med Genet A (2006) 0.80
LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization. Mol Genet Metab (2007) 0.80
Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens. Am J Hematol (2002) 0.79
Pathway analysis software: annotation errors and solutions. Mol Genet Metab (2010) 0.79
Foxn1 gene knockout suppresses sexual attractiveness and pheromonal components of male urine in inbred mice. Chem Senses (2010) 0.79
Newborn screening as a model for population screening. Mol Genet Metab (2002) 0.79
Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation. Mol Genet Metab (2003) 0.78
National collaborative study groups: structure, benefits gained and potential for rare genetic diseases. Genet Med (2006) 0.77
Greater risk of hospitalization in children with Down syndrome and OSA at higher elevation. Chest (2015) 0.77
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome. Hum Mutat (2008) 0.77
Glycerol homeostasis and metabolism in glycerol kinase carrier mice. Mol Genet Metab (2011) 0.76
ff1b, the SF1 ortholog, is important for pancreatic islet cell development in zebrafish. Mol Genet Metab (2010) 0.76
Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin. Mol Diagn (2005) 0.76
Moving toward personalized cell-based interventions for adrenal cortical disorders: part 2--Human diseases and tissue engineering. Mol Genet Metab (2011) 0.76
Down syndrome: addressing the gaps. J Pediatr (2011) 0.75
Newborn screening as a system from birth through lifelong care. Genet Med (2009) 0.75
The expression of nr0b1, the earliest gene in zebrafish tooth development, is a marker for human tooth and ameloblastoma formation. Dev Genes Evol (2009) 0.75
Mining the x-chromosome for disease genes by deep resequencing. Pediatr Res (2009) 0.75
Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development. J Clin Endocrinol Metab (2002) 0.75
Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353. Pediatr Res (2006) 0.75
DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up. J Pediatr (2003) 0.75
Personalized medicine for individuals with Down syndrome. Mol Genet Metab (2011) 0.75
Moving toward personalized cell-based interventions for adrenal cortical disorders: part 1--Adrenal development and function, and roles of transcription factors and signaling proteins. Mol Genet Metab (2011) 0.75
Call for change in prenatal counseling for Down syndrome. Am J Med Genet A (2012) 0.75
Neonatal hemoglobinopathy screening: molecular genetic technologies. Mol Genet Metab (2003) 0.75
Down syndrome and personalized medicine: changing paradigms from genotype to phenotype to treatment. Congenit Anom (Kyoto) (2013) 0.75