Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice (Q37364983)

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1 November 2019

title

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

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1 November 2019

1

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1 November 2019

author name string

Soumounou Y

2

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1 November 2019

Martel J

3

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1 November 2019

Krishnamurthy G

4

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1 November 2019

Gauthier C

5

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1 November 2019

Goodyer CG

6

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1 November 2019

Tenenhouse HS

7

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1 November 2019

language of work or name

English

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publication date

1 March 1997

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Journal of Clinical Investigation

1 November 2019

published in

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1 November 2019

volume

99

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1 November 2019

page(s)

1200-1209

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1 November 2019

issue

6

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

1 November 2019

cites work

1 reference

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

6 September 2017

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

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

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

Defective bone formation by transplanted Hyp mouse bone cells into normal mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507933

X-linked hypophosphatemic rickets and the murine Hyp homologue

26 June 2018

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

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Brief report: inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia

1 reference

12 December 2020

Tumor-induced osteomalacia--unveiling a new hormone

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1172/JCI119276

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9077527%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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1 November 2019

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