Published in Hum Mutat on November 01, 2001
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol (2008) 1.44
A comprehensive survey of non-canonical splice sites in the human transcriptome. Nucleic Acids Res (2014) 0.90
Gene discovery and the genetic basis of calcium consumption. Physiol Behav (2008) 0.86
Engendering biased signalling from the calcium-sensing receptor for the pharmacotherapy of diverse disorders. Br J Pharmacol (2014) 0.84
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. PLoS One (2014) 0.82
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency. PLoS One (2011) 0.82
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. Eur J Pediatr (2010) 0.78
Calcium-Sensing Receptor Gene: Regulation of Expression. Front Physiol (2016) 0.76
Monocrotaline Induces Endothelial Injury and Pulmonary Hypertension by Targeting the Extracellular Calcium-Sensing Receptor. J Am Heart Assoc (2017) 0.75
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. Eur J Pediatr (2003) 0.75
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet (2001) 5.08
Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone. Physiol Rev (1989) 3.87
Evidence that vitamin D3 increases serum 25-hydroxyvitamin D more efficiently than does vitamin D2. Am J Clin Nutr (1998) 2.72
A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet (1999) 2.47
Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer. J Clin Oncol (2001) 2.41
Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone. Proc Natl Acad Sci U S A (1981) 2.36
Nucleotide sequence of the human parathyroid hormone gene. Proc Natl Acad Sci U S A (1983) 2.35
Vitamin D-receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis. Gastroenterology (2000) 2.34
Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci U S A (2001) 2.30
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature (1992) 2.30
Wintertime vitamin D insufficiency is common in young Canadian women, and their vitamin D intake does not prevent it. Eur J Clin Nutr (2001) 2.22
Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status. Am J Surg Pathol (2001) 2.12
Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. Proc Natl Acad Sci U S A (2001) 1.88
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci U S A (1988) 1.80
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet (1996) 1.68
The transcription factor SOX9 regulates cell cycle and differentiation genes in chondrocytic CFK2 cells. J Biol Chem (2001) 1.51
Psychological impact of screening for familial ovarian cancer: reactions to initial assessment. Gynecol Oncol (1997) 1.50
Magnesium transport in the renal distal convoluted tubule. Physiol Rev (2001) 1.44
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A (1998) 1.43
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest (1993) 1.31
Studies of circulating parathyroid hormone in man using a homologous amino-terminal specific immunoradiometric assay. Clin Endocrinol (Oxf) (1980) 1.29
Determinants of peak bone mass: clinical and genetic analyses in a young female Canadian cohort. J Bone Miner Res (1999) 1.25
A radioimmunoassay for 1,25-dihydroxycholecalciferol. Clin Sci Mol Med (1978) 1.22
Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy. Genetics (1999) 1.21
A simplified assessment of response to parathyroid hormone in hypoparathyroid patients. Lancet (1976) 1.19
Regulation of human tonsillar T-cell proliferation by the active metabolite of vitamin D3. Immunology (1986) 1.19
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet (1986) 1.17
Human parathyroid hormone gene (PTH) is on short arm of chromosome 11. Somatic Cell Genet (1983) 1.16
Enzymic characterization of murine and human prohormone convertase-1 (mPC1 and hPC1) expressed in mammalian GH4C1 cells. Biochem J (1993) 1.16
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab (1981) 1.15
In vitro characterization of the novel proprotein convertase PC7. J Biol Chem (1997) 1.14
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat (2000) 1.14
Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies. Can J Ophthalmol (1983) 1.13
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest (1994) 1.13
Differential structuring of human populations for homologous X and Y microsatellite loci. Am J Hum Genet (1997) 1.12
An Ontario-wide study of vitamin B12, serum folate, and red cell folate levels in relation to plasma homocysteine: is a preventable public health issue on the rise?. Clin Biochem (2000) 1.12
Rat parathyroid hormone-like peptide: comparison with the human homologue and expression in malignant and normal tissue. Mol Endocrinol (1989) 1.09
Reversible resistance to the renal action of parathyroid hormone in human vitamin D deficiency. Clin Sci (Lond) (1982) 1.09
mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool. Am J Hum Genet (1997) 1.09
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet (1995) 1.09
Human chromogranin A gene. Molecular cloning, structural analysis, and neuroendocrine cell-specific expression. J Biol Chem (1994) 1.08
Premature mammary development in a heifer with abdominal mesothelioma. J Am Vet Med Assoc (1986) 1.07
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J Am Soc Nephrol (1998) 1.06
Complete amino acid sequence of human parathyroid hormone. Biochemistry (1978) 1.06
The golem of osteoporosis genetics. J Rheumatol (1998) 1.06
Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. Eur J Pediatr (1986) 1.06
Low glucocorticoid receptor alpha/beta ratio in T-cell lymphoblastic leukemia. Horm Metab Res (2000) 1.05
Measurement of 1,25-dihydroxycholecalciferol in man by radioimmunoassay. Clin Endocrinol (Oxf) (1979) 1.05
Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects. J Biol Chem (1989) 1.03
X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Am J Hum Genet (1992) 1.02
Pediatric phase I trial and pharmacokinetic study of topotecan administered as a 24-hour continuous infusion. Cancer Res (1993) 1.01
Influence of calcium and 1,25-dihydroxycholecalciferol on proliferation and proto-oncogene expression in primary cultures of bovine parathyroid cells. Endocrinology (1989) 1.00
Circulating concentrations of parathyroid hormone-like peptide in malignancy and in hyperparathyroidism. J Bone Miner Res (1990) 0.99
Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab (2001) 0.99
Regulation of parathyroid hormone-like peptide in cultured normal human keratinocytes. Effect of growth factors and 1,25 dihydroxyvitamin D3 on gene expression and secretion. J Clin Invest (1991) 0.98
In vitro cleavage of internally quenched fluorogenic human proparathyroid hormone and proparathyroid-related peptide substrates by furin. Generation of a potent inhibitor. J Biol Chem (1998) 0.98
Studies of hypoparathyroidism and pseudohypoparathyroidism. Q J Med (1978) 0.97
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet (1998) 0.96
Menin and TGF-beta superfamily member signaling via the Smad pathway in pituitary, parathyroid and osteoblast. Horm Metab Res (2005) 0.96
Cell cycle regulation of menin expression. Cancer Res (1999) 0.95
Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr (1987) 0.95
A pharmacokinetic model of topotecan clearance from plasma and cerebrospinal fluid. Cancer Res (1994) 0.95
Characterization of immunoglobulin and T-cell receptor gene patterns in B-cell precursor acute lymphoblastic leukemia of childhood. J Clin Oncol (1990) 0.95
Cell-specific expression of the parathyroid hormone (PTH)/PTH-related peptide receptor gene in kidney from kidney-specific and ubiquitous promoters. Endocrinology (1997) 0.93
Quantitating the effect of cystic fibrosis on linear growth by mathematical modelling of longitudinal growth curves. Growth Dev Aging (1989) 0.93
Chromogranin A can act as a reversible processing enzyme inhibitor. Evidence from the inhibition of the IRCM-serine protease 1 cleavage of pro-enkephalin and ACTH at pairs of basic amino acids. FEBS Lett (1987) 0.92
Expression of the 1,25-dihydroxyvitamin D3-24-hydroxylase gene in rat intestine: response to calcium, vitamin D3 and calcitriol administration in vivo. J Bone Miner Res (1995) 0.91
Alterations in the sensing and transport of phosphate and calcium by differentiating chondrocytes. J Biol Chem (2001) 0.91
Serum osteocalcin in the treatment of inherited rickets with 1,25-dihydroxyvitamin D3. J Clin Endocrinol Metab (1983) 0.91
Expression of the mdr-1/P-170 gene in patients with acute lymphoblastic leukemia. Blood (1989) 0.91
Abundant expression of parathyroid hormone-related protein in primary rat aortic smooth muscle cells accompanies serum-induced proliferation. J Clin Invest (1991) 0.91
Calreticulin inhibits vitamin D3 signal transduction. Nucleic Acids Res (1995) 0.90
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. J Clin Invest (1992) 0.90
Intrathecal administration of topotecan in nonhuman primates. Cancer Chemother Pharmacol (1995) 0.90
Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism. J Clin Endocrinol Metab (1986) 0.90
Comparison of the biochemical responses to human parathyroid hormone-(1-31)NH2 and hPTH-(1-34) in healthy humans. J Clin Endocrinol Metab (1999) 0.90
Plasma and cerebrospinal fluid pharmacokinetic study of topotecan in nonhuman primates. Cancer Res (1993) 0.89
Associations of the collagen type Ialpha1 Sp1 polymorphism with five-year rates of bone loss in older adults. Calcif Tissue Int (2000) 0.89
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J Clin Invest (1997) 0.89
Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab (1997) 0.89
Phase I and pharmacokinetic evaluation of thiotepa in the cerebrospinal fluid and plasma of pediatric patients: evidence for dose-dependent plasma clearance of thiotepa. Cancer Res (1989) 0.89
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet (1995) 0.89
Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Genet Metab (2001) 0.88
Identification and characterization of 1,25-dihydroxyvitamin D3-responsive repressor sequences in the rat parathyroid hormone-related peptide gene. J Biol Chem (1996) 0.88
Serum osteocalcin concentrations in children with metabolic bone disease. J Pediatr (1985) 0.87
Schimke immuno-osseous dysplasia: case report and review. Am J Med Genet (1993) 0.87
Increased inorganic sulfate in mother and fetus at parturition: evidence for a fetal-to-maternal gradient. Am J Obstet Gynecol (1984) 0.87
Changing osteocalcin concentrations during pregnancy and lactation: implications for maternal mineral metabolism. J Clin Endocrinol Metab (1987) 0.87