Published in N Engl J Med on November 02, 1978
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet (2005) 2.21
Elevated 1,25-dihydroxyvitamin D plasma levels in normal human pregnancy and lactation. J Clin Invest (1979) 1.56
Parathyroid hormone activation of the 25-hydroxyvitamin D3-1alpha-hydroxylase gene promoter. Proc Natl Acad Sci U S A (1998) 1.38
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet (1998) 1.29
Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. J Clin Invest (1985) 1.24
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. Pediatr Nephrol (2009) 1.14
Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. J Clin Invest (1983) 1.07
Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia. J Clin Invest (1980) 1.03
Correction of proximal tubule phosphate transport defect in Hyp mice in vivo and in vitro with indomethacin. Proc Natl Acad Sci U S A (2003) 1.03
Cytochrome P450-mediated metabolism of vitamin D. J Lipid Res (2013) 1.00
Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. J Clin Invest (1983) 0.96
Demonstration of a lack of change in serum 1 alpha,25-dihydroxyvitamin D in response to parathyroid extract in pseudohypoparathyroidism. J Clin Invest (1980) 0.93
Vitamin D dependent rickets type I. Korean J Pediatr (2011) 0.90
The mechanism of end-organ resistance to 1 alpha,25-dihydroxycholecalciferol in the common marmoset. Biochem J (1985) 0.89
Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism. J Clin Invest (1986) 0.89
Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. J Clin Invest (1988) 0.87
Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets. Bonekey Rep (2014) 0.87
Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia. Pediatr Nephrol (2006) 0.85
Phosphatonin washout in Hyp mice proximal tubules: evidence for posttranscriptional regulation. Am J Physiol Renal Physiol (2004) 0.82
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. Arch Dis Child (1981) 0.79
X linked hypophosphataemia: treatment, height gain, and nephrocalcinosis. Arch Dis Child (1990) 0.76
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics. Am J Hum Genet (1979) 0.75
Normal regulation of calcitriol production in Gy mice. Evidence for biochemical heterogeneity in the X-linked hypophosphatemic diseases. J Clin Invest (1990) 0.75
Assay variation confounds the diagnosis of hypovitaminosis D: a call for standardization. J Clin Endocrinol Metab (2004) 6.41
Current understanding of the molecular actions of vitamin D. Physiol Rev (1998) 4.05
A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89
Metabolism of vitamin D3-3H in human subjects: distribution in blood, bile, feces, and urine. J Clin Invest (1967) 3.69
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med (1974) 3.47
Biologically active metabolite of vitamin D3 from bone, liver, and blood serum. J Lipid Res (1966) 3.39
25-hydroxycholecalciferol. A biologically active metabolite of vitamin D3. Biochemistry (1968) 3.01
1,25-Dihydroxyvitamin D3 reversibly blocks the progression of relapsing encephalomyelitis, a model of multiple sclerosis. Proc Natl Acad Sci U S A (1996) 2.95
Biological activity of 25-hydroxyergocalciferol in rats. J Nutr (1970) 2.85
Expression of 1,25-dihydroxyvitamin D(3) receptor in the immune system. Arch Biochem Biophys (2000) 2.65
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Target cells for 1,25-dihydroxyvitamin D3 in intestinal tract, stomach, kidney, skin, pituitary, and parathyroid. Science (1979) 2.57
1,25-dihydroxycholecalciferol: a potent stimulator of bone resorption in tissue culture. Science (1972) 2.50
Isolation and identification of 1,25-dihydroxycholecalciferol. A metabolite of vitamin D active in intestine. Biochemistry (1971) 2.50
Metabolism and mechanism of action of vitamin D. Annu Rev Biochem (1976) 2.49
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
"Activation" of vitamin D by the liver. J Clin Invest (1969) 2.42
Mechanism of action and metabolic fate of vitamin D. Vitam Horm (1967) 2.42
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. Pediatrics (1977) 2.29
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
Regulation by calcium of in vivo synthesis of 1,25-dihydroxycholecalciferol and 21,25-dihydroxycholecalciferol. Proc Natl Acad Sci U S A (1971) 2.27
A sensitive, precise, and convenient method for determination of 1,25-dihydroxyvitamin D in human plasma. Arch Biochem Biophys (1976) 2.23
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J (1973) 2.22
The role of the liver in the metabolism of vitamin D. J Clin Invest (1969) 2.22
Intestinal calcium absorption and serum vitamin D metabolites in normal subjects and osteoporotic patients: effect of age and dietary calcium. J Clin Invest (1979) 2.21
A rapid assay for 25-OH-vitamin D3 without preparative chromatography. J Clin Endocrinol Metab (1974) 2.20
The effect of Mendelian disease on human health: a measurement. Am J Med Genet (1985) 2.18
Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics (1967) 2.15
A new chromatographic system for vitamin D3 and its metabolites: resoluation of a new vitamin D3 metabolite. J Lipid Res (1971) 2.12
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
1,25-Dihydroxycholecalciferol inhibits the progression of arthritis in murine models of human arthritis. J Nutr (1998) 2.06
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. Am J Med Genet (1984) 2.04
Evidence that increased circulating 1 alpha, 25-dihydroxyvitamin D is the probable cause for abnormal calcium metabolism in sarcoidosis. J Clin Invest (1979) 2.02
Identification of a DNA sequence responsible for binding of the 1,25-dihydroxyvitamin D3 receptor and 1,25-dihydroxyvitamin D3 enhancement of mouse secreted phosphoprotein 1 (SPP-1 or osteopontin) gene expression. Proc Natl Acad Sci U S A (1990) 1.99
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
Vitamin D: recent advances. Annu Rev Biochem (1983) 1.99
The synthesis of [1,2-3H]vitamin D3 and the tissue localization of a 0.25-mu-g (10 IU) dose per rat. Biochemistry (1966) 1.99
The HUGO Mutation Database Initiative. Science (1998) 1.95
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet (1996) 1.94
Carrier screening for Tay-Sachs disease. Lancet (1990) 1.92
Vitamin D metabolism: the role of kidney tissue. Science (1971) 1.91
Vitamin D deficiency suppresses cell-mediated immunity in vivo. Arch Biochem Biophys (1993) 1.89
Regulation of vitamin D metabolism and function. Physiol Rev (1973) 1.88
Isolation and characterization of a novel cDNA from HL-60 cells treated with 1,25-dihydroxyvitamin D-3. Biochim Biophys Acta (1994) 1.85
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Identification of 1,25-dihydroxycholecalciferol, a form of vitamin D3 metabolically active in the intestine. Proc Natl Acad Sci U S A (1971) 1.78
Science's neglected legacy. Nature (2000) 1.77
Biological activity of 1,25-dihydroxycholecalciferol. Biochemistry (1971) 1.77
DNA sequences in the rat osteocalcin gene that bind the 1,25-dihydroxyvitamin D3 receptor and confer responsiveness to 1,25-dihydroxyvitamin D3. Proc Natl Acad Sci U S A (1990) 1.77
Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim Biophys Acta (1995) 1.69
Proof of "disease causing" mutation. Hum Mutat (1998) 1.68
What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
21,25-dihydroxycholecalciferol. A metabolite of vitamin D3 preferentially active on bone. Biochemistry (1970) 1.65
Monoclonal antibodies to the porcine intestinal receptor for 1,25-dihydroxyvitamin D3: interaction with distinct receptor domains. Biochemistry (1986) 1.64
Isolation and identification of 24,25-dihydroxycholecalciferol, a metabolite of vitamin D made in the kidney. Biochemistry (1972) 1.62
25-Hydroxycholecalciferol-1-hydroxylase. Subcellular location and properties. J Biol Chem (1972) 1.62
Subcellular location of vitamin D and its metabolites in intestinal mucosa after a 10-IU dose. Biochemistry (1967) 1.61
1 alpha,25-Dihydroxyvitamin D3 and 1 alpha-hydroxyvitamin D3 prolong survival time of mice inoculated with myeloid leukemia cells. Proc Natl Acad Sci U S A (1983) 1.60
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med (1978) 1.59
25-hydroxycholecalciferol. The probable metabolically active form of vitamin D3: its identification and subcellular site of action. Arch Intern Med (1969) 1.58
Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J (1979) 1.58
The kidney as an endocrine organ for the production of 1,25-dihydroxyvitamin D 3 , a calcium-mobilizing hormone. N Engl J Med (1973) 1.54
Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med (1973) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. Science (1972) 1.48
In vitro production of 25-hydroxycholecalciferol. Biochem Biophys Res Commun (1969) 1.48
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. Kidney Int (1978) 1.45
Mitochondrial cytochrome p450. A component of chick kidney 25-hydrocholecalciferol-1alpha-hydroxylase. J Biol Chem (1974) 1.45
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem (1978) 1.45
Rat intestinal 25-hydroxyvitamin D3- and 1alpha,25-dihydroxyvitamin D3-24-hydroxylase. J Biol Chem (1978) 1.44
Current concepts. Vitamin D. N Engl J Med (1969) 1.43
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Dietary calcium is a major factor in 1,25-dihydroxycholecalciferol suppression of experimental autoimmune encephalomyelitis in mice. J Nutr (1999) 1.41
1,25-dihydroxyvitamin D3 is a positive regulator for the two anti-encephalitogenic cytokines TGF-beta 1 and IL-4. J Immunol (1998) 1.41
Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3. Proc Natl Acad Sci U S A (1992) 1.41
25,26-dihydroxycholecalciferol, a metabolite of vitamin D3 with intestinal calcium transport activity. Biochemistry (1970) 1.40
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
The vitamin D system in the regulation of calcium and phosphorus metabolism. Nutr Rev (1979) 1.39
A specific high-affinity binding macromolecule for 1,25-dihydroxyvitamin D3 in fetal bone. Science (1977) 1.38
Parathyroid hormone activation of the 25-hydroxyvitamin D3-1alpha-hydroxylase gene promoter. Proc Natl Acad Sci U S A (1998) 1.38
Induction of macrophage differentiation of human normal and leukemic myeloid stem cells by 1,25-dihydroxyvitamin D3 and its fluorinated analogues. Cancer Res (1984) 1.37
Effect of estrogen on calcium absorption and serum vitamin D metabolites in postmenopausal osteoporosis. J Clin Endocrinol Metab (1980) 1.37
Metabolism of tritiated vitamin D3 in familial vitamin D-resistant rickets with hypophosphatemia. J Pediatr (1967) 1.37
Vitamin D: the vitamin and the hormone. Fed Proc (1974) 1.36
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Vitamin D stimulated, calcium-dependent adenosine triphosphatase from brush borders of rat small intestine. Biochem Biophys Res Commun (1969) 1.35
Stimulation of 25-hydroxyvitamin D3-1alpha-hydroxylase by phosphate depletion. J Biol Chem (1976) 1.34
Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34
Reduction in 1,25-dihydroxyvitamin D in children with increased lead absorption. N Engl J Med (1980) 1.34
Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin). Pediatrics (1965) 1.34
Stimulation of 24,25-dihydroxyvitamin D3 production by 1,25-dihydroxyvitamin D3. Science (1974) 1.33
Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med (1975) 1.33
Absence of seasonal variation in serum concentrations of 1,25-dihydroxyvitamin D despite a rise in 25-hydroxyvitamin D in summer. J Clin Endocrinol Metab (1981) 1.32