PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. (Q51819465)

13 April 2018

title

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. (English)

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13 April 2018

author name string

Céline Gaucher

1

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13 April 2018

Odile Walrant-Debray

2

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13 April 2018

Thy-Minh Nguyen

3

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13 April 2018

Laure Esterle

4

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13 April 2018

Michèle Garabédian

5

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13 April 2018

Frédéric Jehan

6

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13 April 2018

publication date

15 February 2009

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13 April 2018

published in

Human Genetics

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13 April 2018

volume

125

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13 April 2018

issue

4

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13 April 2018

page(s)

401-411

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13 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-009-0631-z

exact match

0 references

cites work

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

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

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The wrickkened pathways of FGF23, MEPE and PHEX.

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A common molecular basis for three inherited kidney stone diseases

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

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Information for the Coordinates of Exons (ICE): a human splice sites database

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Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets

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

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

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Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

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12 December 2020

Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon

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X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene

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

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MODBASE, a database of annotated comparative protein structure models, and associated resources.

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12 December 2020

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

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12 December 2020

Ontogeny of Phex/PHEX protein expression in mouse embryo and subcellular localization in osteoblasts

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12 December 2020

Mutational analysis of PHEX gene in X-linked hypophosphatemia

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12 December 2020

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

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M13 endopeptidases: New conserved motifs correlated with structure, and simultaneous phylogenetic occurrence of PHEX and the bony fish

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Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait

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12 December 2020

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

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PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets

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A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

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

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Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships

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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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A clinical and molecular genetic study of hypophosphatemic rickets in children

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Inherited forms of rickets and osteomalacia

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

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X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

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

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Structure and function of disease-causing missense mutations in the PHEX gene

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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

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12 December 2020

10.1007/S00439-009-0631-Z

Identifiers

DOI

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13 April 2018

PubMed ID

19219621

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13 April 2018