Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice (Q21092419)

GOA release 2020-03-11

Anne George

9

Anne

George

1 reference

15 August 2022

Xiaofang Wang

1

Xiaofang

Wang

1 reference

15 August 2022

Suzhen Wang

2

Suzhen

Wang

1 reference

15 August 2022

Changcheng Li

3

Changcheng

Li

1 reference

15 August 2022

Tian Gao

4

Tian

Gao

1 reference

15 August 2022

Ying Liu

5

Ying

Liu

1 reference

15 August 2022

Afsaneh Rangiani

6

Afsaneh

Rangiani

1 reference

15 August 2022

Yao Sun

7

Yao

Sun

1 reference

15 August 2022

Jianjun Hao

8

Jianjun

Hao

1 reference

15 August 2022

Yongbo Lu

10

Yongbo

Lu

1 reference

15 August 2022

Jay Groppe

11

Jay

Groppe

1 reference

15 August 2022

Baozhi Yuan

12

Baozhi

Yuan

1 reference

15 August 2022

Jian Q Feng

13

Jian Q

Feng

1 reference

15 August 2022

Chunlin Qin

14

Chunlin

Creative Commons Attribution 4.0 International

Qin

1 reference

15 August 2022

language of work or name

English

0 references

publication date

2012

0 references

published in

PLOS Genetics

0 references

volume

8

0 references

page(s)

e1002708

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issue

5

0 references

copyright license

start time

17 May 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

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

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Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice

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Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

19 March 2017

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19 March 2017

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Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation

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12 September 2017

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Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

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12 September 2017

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30 May 2018

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A transgenic mouse line with a 58-kb fragment deletion in chromosome 11E1 that encompasses part of the Fam20a gene and its upstream region shows growth disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355082

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

29 November 2018

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Pathogenic role of Fgf23 in Hyp mice.

29 November 2018

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29 November 2018

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29 November 2018

1 reference

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Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis

29 November 2018

1 reference

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Renal expression of the sodium/phosphate cotransporter gene, Npt2, is not required for regulation of renal 1 alpha-hydroxylase by phosphate.

29 November 2018

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29 November 2018

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12 December 2020

Changes in dentin appositional rates during pregnancy and lactation in rats

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12 December 2020

Evidence that low plasma 1,25-dihydroxyvitamin D causes intestinal malabsorption of calcium and phosphate in juvenile X-linked hypophosphatemic mice

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Antisera and cDNA probes to human and certain animal model bone matrix noncollagenous proteins

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12 December 2020

Effects of altered diet on serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone in X-linked hypophosphatemic (Hyp and Gy) mice

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12 December 2020

10.1371/JOURNAL.PGEN.1002708

Identifiers

DOI

1 reference

109003

109003

1 reference

1 reference

1 reference