New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (Q36106531)

12 August 2017

New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis (English)

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Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.

12 August 2017

corrigendum / erratum

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author

Martin Hrabě de Angelis

17

Martin Hrabě de Angelis

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Bettina Lorenz-Depiereux

16

Bettina Lorenz-Depiereux

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Isabel Rubio-Aliaga

2

Isabel Rubio-Aliaga

1 reference

12 August 2017

6

Julia Calzada-Wack

1 reference

12 August 2017

Eckhard Wolf

15

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Irene Esposito

13

Irene Esposito

1 reference

12 August 2017

Sibylle Sabrautzki

1

1 reference

12 August 2017

Wolfgang Hans

3

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12 August 2017

Helmut Fuchs

4

1 reference

12 August 2017

Birgit Rathkolb

5

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12 August 2017

Christian M Cohrs

7

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12 August 2017

Matthias Klaften

8

1 reference

12 August 2017

Hartwig Seedorf

9

1 reference

12 August 2017

Sebastian Eck

10

1 reference

12 August 2017

Ana Benet-Pagès

11

1 reference

12 August 2017

Jack Favor

12

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12 August 2017

Tim M Strom

14

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12 August 2017

Bettina Lorenz-Depiereux

16

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12 August 2017

21 April 2012

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12 August 2017

15

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inferred from page(s)

published in

Mammalian Genome

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12 August 2017

23

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12 August 2017

7-8

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12 August 2017

416-430

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https://scigraph.springernature.com/pub.10.1007/s00335-012-9397-z

12 August 2017

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Physiological role of alkaline phosphatase explored in hypophosphatasia

2 October 2017

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

2 October 2017

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2 October 2017

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Domain-specific control of neurogenesis achieved through patterned regulation of Notch ligand expression

2 October 2017

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Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

2 October 2017

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Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.

2 October 2017

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Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse

2 October 2017

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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

2 October 2017

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Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage

2 October 2017

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Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

2 October 2017

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Hypophosphatemia: the common denominator of all rickets

2 October 2017

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Features and strategies of ENU mouse mutagenesis

2 October 2017

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Type IIc sodium-dependent phosphate transporter regulates calcium metabolism

2 October 2017

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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

2 October 2017

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How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases?

2 October 2017

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The extracellular calcium-sensing receptor (CaSR) is a critical modulator of skeletal development

2 October 2017

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PHEX, FGF23, DMP1 and beyond

2 October 2017

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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

2 October 2017

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Generation of a conditional null allele for Dmp1 in mouse

2 October 2017

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ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta

2 October 2017

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An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

2 October 2017

1 reference

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A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice

2 October 2017

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Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.

2 October 2017

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Insights into material and structural basis of bone fragility from diseases associated with fractures: how determinants of the biomechanical properties of bone are compromised by disease.

2 October 2017

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A genetic screen for modifiers of the delta1-dependent notch signaling function in the mouse

2 October 2017

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

2 October 2017

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ARTS: a web-based tool for the set-up of high-throughput genome-wide mapping panels for the SNP genotyping of mouse mutants

2 October 2017

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Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.

2 October 2017

1 reference

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Primary hyperparathyroidism: new concepts in clinical, densitometric and biochemical features

2 October 2017

1 reference

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Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Management of Paget's disease of bone

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

A genomewide screening of N-ethyl-N-nitrosourea-mutagenized mice for musculoskeletal phenotypes☆

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice.

2 October 2017

1 reference

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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

X-linked hypophosphataemia: a homologous disorder in humans and mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Large scale ENU screens in the mouse: genetics meets genomics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Increased bone formation in osteocalcin-deficient mice.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Release of membrane-bound enzymes from cells and the generation of isoforms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

The role of surface carbohydrates in the hepatic recognition and transport of circulating glycoproteins.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Benign inherited hyperphosphatasemia of intestinal origin: report of two cases and a brief review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Clinical use of biochemical markers of bone remodeling in osteoporosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Tissue non-specific alkaline phosphatase is expressed in both embryonic and extraembryonic lineages during mouse embryogenesis but is not required for migration of primordial germ cells.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in plasma enzyme activities as novel organ-specific disease models

2 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

The Dentin Matrix Protein 1 (Dmp1) is Specifically Expressed in Mineralized, but not Soft, Tissues during Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Introducing the German Mouse Clinic: open access platform for standardized phenotyping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Genotype-specific environmental impact on the variance of blood values in inbred and F1 hybrid mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Clinical observations with a new specific assay for bone alkaline phosphatase: a cross-sectional study in osteoporotic and pagetic subjects and a longitudinal evaluation of the response to ovariectomy, estrogens, and bisphosphonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Circadian and longitudinal variation of serum C-telopeptide, osteocalcin, and skeletal alkaline phosphatase in C3H/HeJ mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Risedronate, a highly effective oral agent in the treatment of patients with severe Paget's disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3401305

New ENU-induced semidominant mutation, Ali18, causes inflammatory arthritis, dermatitis, and osteoporosis in the mouse

23 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Novel lymphocyte-independent mechanisms to initiate inflammatory arthritis via bone marrow-derived cells of Ali18 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Generation of ENU-Induced Mouse Mutants with Hypocholesterolemia: Novel Tools for Dissecting Plasma Lipoprotein Homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

The clinical-chemical screen in the Munich ENU Mouse Mutagenesis Project: screening for clinically relevant phenotypes

21 January 2018

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The large-scale Munich ENU-mouse-mutagenesis screen

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Bone turnover markers in patients with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00335-012-9397-Z

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

21 January 2018

1 reference

12 December 2020

Targeted insertion of Cre recombinase into the TNAP gene: excision in primordial germ cells

1 reference

12 December 2020

Recommendations for the health monitoring of rodent and rabbit colonies in breeding and experimental units

1 reference

12 December 2020

Osteopetrosis, a New Recessive Skeletal Mutation on Chromosome 12 of the Mouse

1 reference

12 December 2020

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

12 December 2020

Hereditary hypophosphatemic rickets with hypercalciuria

1 reference

12 December 2020

Paget's disease of bone

1 reference

12 December 2020

Benign familial hyperphosphatasemia

1 reference

12 December 2020

Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder

1 reference

12 December 2020

Bone Formation Markers in Adults with Mild Osteogenesis Imperfecta

1 reference

12 December 2020

Activity or mass concentration of bone-specific alkaline phosphatase as a marker of bone formation

1 reference

12 December 2020

Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia

1 reference

12 December 2020

10.1007/S00335-012-9397-Z

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

1 reference