Rare coding variants inALPLare associated with low serum alkaline phosphatase and low bone mineral density

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

(2010) Kai Wang 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

Genetics of Osteoporosis

(2010) Stuart H. Ralston et al.   ENDOCRINE REVIEWS

Clinical utility gene card for: hypophosphatasia

(2010) Etienne Mornet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Common Genetic Variants Associate with Serum Phosphorus Concentration

(2010) B. Kestenbaum et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

The Mechanism of Mineralization and the Role of Alkaline Phosphatase in Health and Disease

(2010) Hideo Orimo   JOURNAL OF NIPPON MEDICAL SCHOOL

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

(2009) Delphine Fauvert et al.   BMC Medical Genetics

Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese

(2009) Qing-Yang Huang et al.   BONE

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

(2009) Sergey Ermakov et al.   BONE

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

(2009) Fernando Rivadeneira et al.   NATURE GENETICS

Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening

(2009) Y.-P. Zhang et al.   OSTEOPOROSIS INTERNATIONAL

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Population-Based Genome-wide Association Studies Reveal Six Loci Influencing Plasma Levels of Liver Enzymes

(2008) Xin Yuan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping of quantitative trait loci for clinical-chemical traits in swine

(2008) G. Reiner et al.   ANIMAL GENETICS

Hypophosphatasia

(2008) Etienne Mornet   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Autosome-wide linkage analysis of hip structural phenotypes in the Old Order Amish

(2008) E.A. Streeten et al.   BONE

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3

(2008) Andy Willaert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

(2008) A. S. Lia-Baldini et al.   HUMAN GENETICS

Quantitative Trait Loci for BMD in an SM/J by NZB/BlNJ Intercross Population and Identification of Trps1 as a Probable Candidate Gene

(2008) Naoki Ishimori et al.   JOURNAL OF BONE AND MINERAL RESEARCH

An Integrative Genetics Approach to Identify Candidate Genes Regulating BMD: Combining Linkage, Gene Expression, and Association

(2008) Charles R Farber et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Mouse Phenome Database

(2008) S. C. Grubb et al.   NUCLEIC ACIDS RESEARCH