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

scientific article published on November 2002

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0002-9440(10)64468-9
P932PMC publication ID1850771
P698PubMed publication ID12414538

P50authorNatalie A. SimsQ38324957
Marina R. CarpinelliQ54107278
Rachel A BurtQ57334495
P2093author name stringMelanie Bahlo
Douglas J Hilton
Warren S Alexander
Simon J Foote
Ian P Wicks
Kristy O'Donnell
Katherine Hanzinikolas
P2860cites workAutosomal dominant hypophosphataemic rickets is associated with mutations in FGF23Q24290481
FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrateQ24291335
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP ConsortiumQ24308202
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalaciaQ24623628
Exon recognition in vertebrate splicingQ29615088
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).Q30426917
The Gy mutation: another cause of X-linked hypophosphatemia in mouseQ30501242
Ethylnitrosourea mutagenesis and the isolation of mutant alleles for specific genes located in the T region of mouse chromosome 17.Q33950546
Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterizationQ34125548
Hypophosphatemic ricketsQ34436396
Bone homeostasis in growth hormone receptor-null mice is restored by IGF-I but independent of Stat5.Q34457990
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic ricketsQ35238632
Point mutations within a dimer interface homology domain of c-Mpl induce constitutive receptor activity and tumorigenicityQ37624867
Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.Q40862972
Production of hematopoietic regulatory factors in cultures of adult and fetal mouse organs: measurement by specific bioassaysQ41306315
Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX.Q41462914
Using targeted large deletions and high-efficiency N-ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genomeQ41711292
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric studyQ46273721
Stimulation of cortical bone mineralization and remodeling by phosphate and 1,25-dihydroxyvitamin D in vitamin D-resistant ricketsQ46278613
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic ricketsQ48049188
Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouseQ48488450
Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residuesQ57274956
Mutational Analysis of PHEX Gene in X-Linked HypophosphatemiaQ60021571
Fine genetic mapping of the Hyp mutation on mouse chromosome XQ71596009
Pex mRNA is localized in developing mouse osteoblasts and odontoblastsQ74386168
Mutational analysis of PHEX gene in X-linked hypophosphatemiaQ77398352
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)1925-1933
P577publication date2002-11-01
P1433published inThe American Journal of PathologyQ4744259
P1476titleAn ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets
P478volume161

Reverse relations

cites work (P2860)
Q35783146A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
Q46290971A novel Phex mutation in a new mouse model of hypophosphatemic rickets
Q40091200A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice
Q37092161Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia
Q64040255FGF23 and its role in X-linked hypophosphatemia-related morbidity
Q28177435FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
Q38244118Genetic diseases of renal phosphate handling
Q35218561Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.
Q37231400N-ethyl-N-nitrosourea mutagenesis produced a small number of mice with altered plasma electrolyte levels
Q33808604New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice
Q36106531New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis
Q48865827Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype
Q28511009Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia
Q46292105Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging
Q48081611Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse.
Q45086510Spermine synthesis is required for normal viability, growth, and fertility in the mouse
Q34265101X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

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