(Q35747726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets (English)

1 reference

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14 December 2019

1

1 reference

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14 December 2019

Natalie A. Sims

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Rachel A Burt

6

1 reference

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14 December 2019

author name string

Ian P Wicks

2

1 reference

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14 December 2019

Kristy O'Donnell

4

1 reference

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14 December 2019

Katherine Hanzinikolas

5

1 reference

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14 December 2019

Simon J Foote

7

1 reference

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14 December 2019

Melanie Bahlo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Warren S Alexander

9

1 reference

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14 December 2019

Douglas J Hilton

10

1 reference

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14 December 2019

language of work or name

English

0 references

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

The American Journal of Pathology

14 December 2019

published in

1 reference

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14 December 2019

volume

161

1 reference

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14 December 2019

issue

5

1 reference

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14 December 2019

page(s)

1925-1933

1 reference

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14 December 2019

cites work

Hypophosphatemic rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Bone homeostasis in growth hormone receptor-null mice is restored by IGF-I but independent of Stat5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Using targeted large deletions and high-efficiency N-ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Point mutations within a dimer interface homology domain of c-Mpl induce constitutive receptor activity and tumorigenicity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Exon recognition in vertebrate splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Production of hematopoietic regulatory factors in cultures of adult and fetal mouse organs: measurement by specific bioassays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Ethylnitrosourea mutagenesis and the isolation of mutant alleles for specific genes located in the T region of mouse chromosome 17.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Stimulation of cortical bone mineralization and remodeling by phosphate and 1,25-dihydroxyvitamin D in vitamin D-resistant rickets

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850771

Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia

15 November 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964468-9

Pex mRNA is localized in developing mouse osteoblasts and odontoblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964468-9

Fine genetic mapping of the Hyp mutation on mouse chromosome X

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964468-9

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2964468-9

Mutational analysis of PHEX gene in X-linked hypophosphatemia

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12414538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)64468-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12414538%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

PubMed publication ID

12414538

1 reference