(Q36491105)

14 August 2017

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism (English)

1 reference

14 August 2017

1 reference

Catherine A. Brownstein

object named as

Catherine A Brownstein

1

0 references

Yo-Ichi Nabeshima

7

object named as

Yo-Ichi Nabeshima

1 reference

14 August 2017

Felix Adler

2

1 reference

14 August 2017

Carol Nelson-Williams

3

1 reference

14 August 2017

Junko Iijima

4

1 reference

14 August 2017

Peining Li

5

1 reference

14 August 2017

Akihiro Imura

6

1 reference

14 August 2017

Miguel Reyes-Mugica

8

1 reference

14 August 2017

Thomas O Carpenter

9

1 reference

14 August 2017

Richard P Lifton

10

1 reference

14 August 2017

language of work or name

English

0 references

publication date

28 February 2008

1 reference

Proceedings of the National Academy of Sciences of the United States of America

14 August 2017

1 reference

14 August 2017

105

1 reference

14 August 2017

9

1 reference

14 August 2017

3455-3460

1 reference

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Renal osteodystrophy, phosphate homeostasis, and vascular calcification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

alpha-Klotho as a regulator of calcium homeostasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Klotho converts canonical FGF receptor into a specific receptor for FGF23

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Proximal tubular handling of phosphate: A molecular perspective

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Calcium and phosphate handling in peritoneal dialysis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Regulation of fibroblast growth factor-23 signaling by klotho

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

GG: a domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Regulation of phosphorus homeostasis by the type iia na/phosphate cotransporter

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Identification and characterization of cis-acting elements in the human and bovine PTH mRNA 3'-untranslated region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Analysis of recombinant Phex: an endopeptidase in search of a substrate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

A conserved cis-acting element in the parathyroid hormone 3'-untranslated region is sufficient for regulation of RNA stability by calcium and phosphate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Molecular mechanisms of secondary hyperparathyroidism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Structure and function of the nucleus: anatomy and physiology of chromatin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

RNA-Protein binding and post-transcriptional regulation of parathyroid hormone gene expression by calcium and phosphate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Parathyroid hormone leads to the lysosomal degradation of the renal type II Na/Pi cotransporter

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

A Drosophila protein that imparts directionality on a chromatin insulator is an enhancer of position-effect variegation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

The genomic response of the mouse kidney to low-phosphate diet is altered in X-linked hypophosphatemia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Klotho is a novel beta-glucuronidase capable of hydrolyzing steroid beta-glucuronides

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

Hypervitaminosis D and premature aging: lessons learned from Fgf23 and Klotho mutant mice

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265125

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia

4 December 2018

1 reference

12 December 2020

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets

1 reference

12 December 2020

Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance

1 reference

12 December 2020

Intravenous calcitriol therapy increases serum concentrations of fibroblast growth factor-23 in dialysis patients with secondary hyperparathyroidism

1 reference

12 December 2020

Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0712361105

1 reference

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

18308935

1 reference