Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.

Genes - 28 Jul 2022

El Hakam Carole, Parenté Alexis, Baraige Fabienne, Magnol Laetitia, Forestier Lionel, Di Meo Florent, Blanquet Véronique

Abstract excerpt

PhexL222P mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. PhexL222P mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased epiphyseal growth plate thickness and femur diameter despite the increase in PHEXL222P expression. Actually, PhexL222P mice show an increase in Fgf23, Dmp1, and Mepe and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone and Bones
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblast Growth Factors

Share to Mutation

Share to PHEX Phosphate Regulating Neutral Endopeptidase

Source

Open in PubMed Open full text

Identifiers

PMID: 36011266
DOI: 10.3390/genes13081356
PMCID: PMC9407253

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.PMID 36011266Read ↗

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.Semantic proximity Read ↗

Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the PHEX Gene.Semantic proximity Read ↗

Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.Semantic proximity Read ↗

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.Semantic proximity Read ↗

Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.Semantic proximity Read ↗

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.Semantic proximity Read ↗

The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model.Semantic proximity Read ↗

Hexa-D-arginine treatment increases 7B2•PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype.Semantic proximity Read ↗

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.Semantic proximity Read ↗

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.Semantic proximity Read ↗

X-Linked Hypophosphatemia: A Review of Pathophysiology, Clinical Manifestations, Current Management, and Emerging Therapeutic StrategiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.