X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage (Q35848808)

10 August 2017

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title

X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage (English)

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10 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528020

5 October 2022

1

Scriver CR

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10 August 2017

C. R. Scriver

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528020

5 October 2022

H. S. Tenenhouse

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1528020

5 October 2022

language of work or name

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1 January 1992

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Journal of Inherited Metabolic Disease

10 August 2017

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10 August 2017

15

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10 August 2017

4

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10 August 2017

610-624

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https://scigraph.springernature.com/pub.10.1007/bf01799618

10 August 2017

0 references

cites work

X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799618

Some observations on bone mineral in a case of vitamin D resistant rickets

21 January 2018

1 reference

12 December 2020

Hereditary forms of rickets and osteomalacia

1 reference

12 December 2020

Sulfate inhibits [14C]phosphonoformic acid binding to renal brush-border membranes

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney

1 reference

12 December 2020

[Biologic basis of the sensitivity of rickets to vitamin D]

1 reference

12 December 2020

Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families

1 reference

12 December 2020

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene

1 reference

12 December 2020

Normal molecular size of the Na(+)-phosphate cotransporter and normal Na(+)-dependent binding of phosphonoformic acid in renal brush border membranes of X-linked Hyp mice

1 reference

12 December 2020

Vitamin D metabolism and phosphate transport in developing kidney: effect of diet and mutation

1 reference

12 December 2020

Vitamin D-resistant rickets associated withepidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions

1 reference

12 December 2020

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

1 reference

12 December 2020

The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes

1 reference

12 December 2020

X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults.

1 reference

12 December 2020

Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets.

1 reference

12 December 2020

Abnormal relationship between serum phosphate concentration and renal 25-hydroxycholecalciferol-1-alpha-hydroxylase activity in X-linked hypophosphatemic mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Rickets and osteomalacia from renal tubule defects

1 reference

12 December 2020

Primary cultures of renal epithelial cells from X-linked hypophosphatemic (Hyp) mice express defects in phosphate transport and vitamin D metabolism

1 reference

12 December 2020

Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse.

1 reference

12 December 2020

Chromosome maps of man and mouse. IV.

1 reference

12 December 2020

A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

1 reference

12 December 2020

Hyperparathyroidism as the Cause of Hyperaminoaciduia and Phosphaturia in Human Vitamin D Deficiency

1 reference

12 December 2020

Abnormal adenosine 3'.5'-monophosphate stimulation of renal 1,25-dihydroxyvitamin D production in hyp mice: evidence that 25-hydroxyvitamin D-1 alpha-hydroxylase dysfunction results from aberrant intracellular function

1 reference

12 December 2020

Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex

1 reference

12 December 2020

Effect of 1,25-dihydroxyvitamin D3 on phosphate homeostasis in the X-linked hypophosphatemic (Hyp) mouse

1 reference

12 December 2020

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

1 reference

12 December 2020

Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse

1 reference

12 December 2020

The recruitment of crystallins: new functions precede gene duplication.

1 reference

12 December 2020

Familial forms of vitamin D-resistant rickets revisited. X-linked hypophosphatemia and autosomal recessive vitamin D dependency

1 reference

12 December 2020

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

1 reference

12 December 2020

Expression of renal transport systems for inorganic phosphate and sulfate in Xenopus laevis oocytes

1 reference

12 December 2020

The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model)

1 reference

12 December 2020

Bridging markers defining the map position of X linked hypophosphataemic rickets.

1 reference

12 December 2020

On the origin and prevention of PAIDS (Paralyzed Academic Investigator's Disease Syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

1 reference

12 December 2020

Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways

1 reference

12 December 2020

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse.

1 reference

12 December 2020

Evidence for an Intrinsic Renal Tubular Defect in Mice with Genetic Hypophosphatemic Rickets

1 reference

12 December 2020

Protein kinase C in mouse kidney: effect of the Hyp mutation and phosphate deprivation

1 reference

12 December 2020

Pi transport, phosphorylation, and dephosphorylation in renal membranes from HYP/Y mice

1 reference

12 December 2020

Chromosome maps of man and mouse II

1 reference

12 December 2020

Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization.

1 reference

12 December 2020

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Intestinal transport of phosphate anion is not impaired in the Hyp (hypophosphatemic) mouse

1 reference

12 December 2020

On the heritability of rickets, a common disease (Mendel, mammals and phosphate)

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular basis of dominance.

1 reference

12 December 2020

Metabolism of 25-hydroxyvitamin D3 in renal slices from the X-linked hypophosphatemic (Hyp) mouse: abnormal response to fall in serum calcium

1 reference

12 December 2020

Abnormal proximal tubule apical membrane protein composition in X-linked hypophosphatemic mice

1 reference

12 December 2020

Of mouse and man: the hypophosphataemic genes

1 reference

12 December 2020

Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemangiopericytoma-induced osteomalacia: tumor transplantation in nude mice causes hypophosphatemia and tumor extracts inhibit renal 25-hydroxyvitamin D 1-hydroxylase activity

1 reference

12 December 2020

Characterization of the defect in the Na(+)-phosphate transporter in vitamin D-resistant hypophosphatemic mice

1 reference

12 December 2020

Oncogenic hypophosphatemic osteomalacia

1 reference

12 December 2020

Investigation of the Mechanism for Abnormal Renal 25 Hydroxyvitamin D3-1-Hydroxylase Activity in the XLinkedHypMouse*

1 reference

12 December 2020

Serum parathyroid hormone in X-linked hypophosphatemia

1 reference

12 December 2020

Micropuncture study of renal phosphorus transport in hypophosphatemic vitamin D resistant rickets mice

1 reference

12 December 2020

The Gy mutation: another cause of X-linked hypophosphatemia in mouse

1 reference

12 December 2020

Mineral uptake by the femora of older female X-linked hypophosphatemic (HYP) mice but not older male HYP mice.

1 reference

12 December 2020

Presence of multiple sodium-dependent phosphate transport processes in proximal brush-border membrane

1 reference

12 December 2020

Renal na+‐phosphate cotransport in X‐linked hyp mice responds appropriately to NA+ gradient, membrane potential, and pH

1 reference

12 December 2020

Rickets and the pathogenesis of impaired tubular transport of phosphate and other solutes

1 reference

12 December 2020

Evidence for protein kinase C involvement in the regulation of renal 25-hydroxyvitamin D3-24-hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

1 reference

12 December 2020

Renal threshold phosphate concentration (TmPO4/GFR)

1 reference

12 December 2020

X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958

1 reference

12 December 2020

Phorbol myristate acetate activates protein kinase C, stimulates the phosphorylation of endogenous proteins and inhibits phosphate transport in mouse renal tubules

1 reference

12 December 2020

Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.

1 reference

12 December 2020

Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse

1 reference

12 December 2020

Protein kinase activity and protein kinase inhibitor in mouse kidney: effect of the X-linked Hyp mutation and vitamin D status

1 reference

12 December 2020

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799618

1 reference

10 August 2017

1 reference