Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
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T. Meitinger | T. Strom | H. Lehrach | F. Glorieux | M. Econs | A. Read | F. Francis | A. David | E. Pronicka | M. Macher | H Lehrach | F H Glorieux | M. Garabédian | M. Drezner | A P Read | S. Pannetier | P S Rowe | C L Oudet | F Francis | C Sinding | S Pannetier | M J Econs | T M Strom | T Meitinger | M Garabedian | A David | M A Macher | E Questiaux | E Popowska | E Pronicka | A Mokrzycki | M K Drezner | A Hanauer | J N Goulding | J L O'Riordan | E. Popowska | C. Oudet | C. Sinding | E. Questiaux | J. O'riordan | P. Rowe | J. Goulding | A. Hanauer | A. Mokrzycki
[1] P. Rowe,et al. The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism. , 1997, Experimental nephrology.
[2] F. Glorieux,et al. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. , 1996, Genomics.
[3] A. Ong,et al. Candidate 56 and 58 kDa protein(s) responsible for mediating the renal defects in oncogenic hypophosphatemic osteomalacia. , 1996, Bone.
[4] M. Econs,et al. Phosphate transport in immortalized cell cultures from the renal proximal tubule of normal and Hyp Mice: Evidence That the HYP gene locus product is an extrarenal factor , 1995, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[5] A. Poustka,et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets , 1995, Nature Genetics.
[6] F. Glorieux,et al. Effect of 1,25‐dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X‐linked hypophosphatemic mice , 1995, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[7] R. Browne,et al. The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. , 1994, Pediatrics.
[8] J. Chan,et al. X-linked hypophosphatemia: molecular biology and treatment controversies. , 1994, Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui.
[9] M. Econs,et al. Tumor-induced osteomalacia--unveiling a new hormone. , 1994, The New England journal of medicine.
[10] P. Kao,et al. Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. , 1994, The New England journal of medicine.
[11] E. Fisher,et al. Human haploinsufficiency — one for sorrow, two for joy , 1994, Nature Genetics.
[12] S. Roy,et al. Increased renal 25-hydroxyvitamin D3-24-hydroxylase messenger ribonucleic acid and immunoreactive protein in phosphate-deprived Hyp mice: a mechanism for accelerated 1,25-dihydroxyvitamin D3 catabolism in X-linked hypophosphatemic rickets. , 1994, Endocrinology.
[13] A. Werner,et al. Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization. , 1994, The Journal of clinical investigation.
[14] C. Scriver,et al. Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. , 1993, Genetical research.
[15] H. Armbrecht,et al. Effects of 1,25-dihydroxyvitamin D3 and phorbol ester on 25-hydroxyvitamin D3 24-hydroxylase cytochrome P450 messenger ribonucleic acid levels in primary cultures of rat renal cells. , 1993, Endocrinology.
[16] F. Schranck,et al. X‐linked hypophosphatemic rickets: A study (with literature review) of linear growth response to calcitriol and phosphate therapy , 1992, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[17] L. Hersh,et al. Exon 16 del: a novel form of human neutral endopeptidase (CALLA). , 1992, The American journal of physiology.
[18] R. Griffiths,et al. Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. , 1992, The Journal of clinical investigation.
[19] F. Glorieux,et al. Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X‐linked hypophosphatemic mice , 1992, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[20] C. Gundberg,et al. Development and validation of a radioimmunoassay for mouse osteocalcin: paradoxical response in the Hyp mouse. , 1992, Endocrinology.
[21] F. Glorieux,et al. Defective bone formation by hyp mouse bone cells transplanted into normal mice: Evidence in favor of an intrinsic osteoblast defect , 1992, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[22] G. Semenza,et al. Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[23] N. Nakagawa,et al. Characterization of the defect in the Na(+)-phosphate transporter in vitamin D-resistant hypophosphatemic mice. , 1991, The Journal of biological chemistry.
[24] J. Schwartz,et al. A Novel Potential Metallopeptidase Derived from the Enkephalinase Gene by Alternative Splicing , 1990, Journal of neurochemistry.
[25] A. Boneh,et al. Evidence for protein kinase C involvement in the regulation of renal 25-hydroxyvitamin D3-24-hydroxylase. , 1990, Endocrinology.
[26] H. Tenenhouse,et al. Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets. , 1990, The Journal of clinical investigation.
[27] A. Boneh,et al. Phorbol myristate acetate activates protein kinase C, stimulates the phosphorylation of endogenous proteins and inhibits phosphate transport in mouse renal tubules. , 1989, Biochimica et biophysica acta.
[28] R. Gray,et al. Parabiosis suggests a humoral factor is involved in X‐linked hypophosphatemia in mice , 1989, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[29] H. Tenenhouse,et al. The renal phosphate transport defect in normal mice parabiosed to X‐linked hypophosphatemic mice persists after parathyroidectomy , 1989, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[30] F. Glorieux,et al. Defective bone formation by transplanted Hyp mouse bone cells into normal mice. , 1988, Endocrinology.
[31] M. Fukase,et al. Hemangiopericytoma-induced osteomalacia: tumor transplantation in nude mice causes hypophosphatemia and tumor extracts inhibit renal 25-hydroxyvitamin D 1-hydroxylase activity. , 1988, The Journal of clinical endocrinology and metabolism.
[32] H. Tenenhouse,et al. Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. , 1988, The Journal of clinical investigation.
[33] L. Hersh,et al. Evidence for an essential histidine in neutral endopeptidase 24.11. , 1987, Biochemistry.
[34] Y. Ohshima,et al. Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences. , 1987, Journal of molecular biology.
[35] H. Tenenhouse,et al. Protein kinase activity and protein kinase inhibitor in mouse kidney: effect of the X-linked Hyp mutation and vitamin D status. , 1985, Endocrinology.
[36] J. Schwartz,et al. The enkephalinase inhibitor thiorphan shows antinociceptive activity in mice , 1980, Nature.
[37] L. Solomon,et al. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. , 1977, The Journal of pediatrics.
[38] W. L. Hawley,et al. Renal transplantation in hypophosphatemia with vitamin D-resistant rickets. , 1974, Archives of internal medicine.
[39] C. Carter. Mendelian Inheritance in Man , 1967 .
[40] N. Rawlings,et al. Evolutionary families of metallopeptidases. , 1995, Methods in enzymology.
[41] M. Fournié-Zaluski,et al. Inhibitors of neprilysin: design, pharmacological and clinical applications. , 1995, Methods in enzymology.
[42] The X-Chromosome Inactivation and the Location and Expression of X-linked Genes , 2022 .