Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

1995 • 1,077 citations

ECE-1: A membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1

1994 • 932 citations

Neutral endopeptidase 24.11: structure, inhibition, and experimental and clinical pharmacology.

1993 • 734 citations

Mendelian inheritance in man

1993 • 430 citations

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.

1976 • 399 citations

Inhibition of Renal Phosphate Transport by a Tumor Product in a Patient with Oncogenic Osteomalacia

1994 • 311 citations

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1994 • 293 citations

Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect.

1992 • 219 citations

Ribonuclease Protection Assay

1993 • 207 citations

cDNA Cloning of the MurinePexGene Implicated in X-Linked Hypophosphatemia and Evidence for Expression in Bone

1996 • 174 citations

Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): multiple miniexons and separate 5' untranslated regions.

1989 • 130 citations

The renal phosphate transport defect in normal mice parabiosed to X-linked hypophosphatemic mice persists after parathyroidectomy

1989 • 125 citations

Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization.

1994 • 114 citations

Defective bone formation by hyp mouse bone cells transplanted into normal mice: Evidence in favor of an intrinsic osteoblast defect

1992 • 104 citations

Defective Bone Formation by Transplanted Hyp Mouse Bone Cells into Normal Mice*

1988 • 88 citations

Human fetal extremity lengths in the interval from 9 to 21 menstrual weeks of pregnancy

1984 • 86 citations

Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

1995 • 86 citations

X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry

1991 • 84 citations

Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets.

1988 • 67 citations

Localization of a Renal Sodium-Phosphate Cotransporter Gene to Human Chromosome 5q35

1994 • 64 citations

Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets.

1990 • 62 citations

Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney

1989 • 56 citations

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

1993 • 51 citations

Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).

1996 • 51 citations

Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice

1992 • 50 citations

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 • 47 citations

X-linked hypophosphatemic rickets and the murine Hyp homologue

1995 • 30 citations

Transcriptional regulation and renal localization of 1,25-dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3.

1996 • 27 citations

Altered osteoblast gluconeogenesis in X-linked hypophosphatemic mice is associated with a depressed intracellular pH

1995 • 23 citations

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

1994 • 21 citations

Renal adaptation to phosphate deprivation: lessons from the X-linkedHyp mouse

1993 • 20 citations

Conserved loci on the X chromosome confer phosphate homeostasis in mice and humans

1990 • 17 citations

X-Linked hypophosphatemia. A phenotype in search of a cause

1992 • 17 citations

Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D-deficient rickets

1993 • 13 citations

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 • 11 citations

Transcriptional regulation and renal localization of 1,25- dihydroxyvitamin D3-24-hydroxylase gene expression: effects of the Hyp mutation and 1,25-dihydroxyvitamin D3

1996 • 6 citations

Novel types of mutation identified at the hprt locus of human T-lymphocytes

1994 • 5 citations

Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.

1996 • 2 citations