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

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

(2011) Anna Daroszewska et al.   HUMAN MOLECULAR GENETICS

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

(2011) Deborah Wenkert et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

(2011) Bernhard Aigner et al.   MAMMALIAN GENOME

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice

(2011) E. G. Farrow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

(2010) Bettina Lorenz-Depiereux et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Physiological role of alkaline phosphatase explored in hypophosphatasia

(2010) Michael P. Whyte   Annals of the New York Academy of Sciences

Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23

(2010) Clemens Bergwitz et al.   Annual Review of Medicine

Insulin Receptor Signaling in Osteoblasts Regulates Postnatal Bone Acquisition and Body Composition

(2010) Keertik Fulzele et al.   CELL

Insulin Signaling in Osteoblasts Integrates Bone Remodeling and Energy Metabolism

(2010) Mathieu Ferron et al.   CELL

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

(2010) U. Marklund et al.   DEVELOPMENT

Mouse phenotyping

(2010) Helmut Fuchs et al.   METHODS

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

(2010) Patrick Smits et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Natalia Mejia-Gaviria et al.   Orphanet Journal of Rare Diseases

The ARF Tumor Suppressor Regulates Bone Remodeling and Osteosarcoma Development in Mice

(2010) Daniel A. Rauch et al.   PLoS One

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

(2009) Joan C. Marini et al.   CELL AND TISSUE RESEARCH

PHEX, FGF23, DMP1 and beyond

(2009) Tim M Strom et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Features and Strategies of ENU Mouse Mutagenesis

(2009) Dian Soewarto et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse

(2009) Catherine A. Brownstein et al.   ENDOCRINOLOGY

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

(2009) Bernhard Aigner et al.   EXPERIMENTAL PHYSIOLOGY

Novel Gain of Function Mutations of the Calcium-sensing Receptor in Two Patients with PTH-deficient Hypocalcemia

(2009) Kishiko Nakajima et al.   INTERNAL MEDICINE

Hypophosphatemia: the common denominator of all rickets

(2009) Dov Tiosano et al.   JOURNAL OF BONE AND MINERAL METABOLISM

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

(2009) Sebastian H Eck et al.   GENOME BIOLOGY

Generation of a conditional null allele forDmp1 in mouse

(2008) Jian Q. Feng et al.   GENESIS

Type IIc Sodium-Dependent Phosphate Transporter Regulates Calcium Metabolism

(2008) H. Segawa et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics

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

(2008) Brigitte Simon-Bouy et al.   PRENATAL DIAGNOSIS

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

(2008) C. Beck et al.   RHEUMATOLOGY INTERNATIONAL

The Extracellular Calcium-Sensing Receptor (CaSR) Is a Critical Modulator of Skeletal Development

(2008) W. Chang et al.   Science Signaling

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

(2007) Ivana Barbaric et al.   PHYSIOLOGICAL GENOMICS