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

Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2012

Nielson Carrie M, Zmuda Joseph M, Carlos Amy S, Wagoner Wendy J, Larson Emily A, Orwoll Eric S, Klein Robert F

Abstract excerpt

Alkaline phosphatase (ALP) plays an essential role in the regulation of tissue mineralization, and its activity is highly heritable. Guided by genetic associations discovered in a murine model, we hypothesized a role for rare coding variants in determining serum ALP level and bone mineral density (BMD) in humans. We sequenced the coding regions of the ALP gene (ALPL) in men with low and normal serum ALP activity...

Read the complete abstract on PubMed

Topics

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

Share to Alkaline Phosphatase
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Density

Share to Haplotypes

Share to Mice, Inbred C57BL

Share to Open Reading Frames

Share to Osteoporotic Fractures

Source

Open in PubMed Open full text

Identifiers

PMID: 21956185
DOI: 10.1002/jbmr.527
PMCID: PMC3810303

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.PMID 21956185Read ↗

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.Semantic proximity Read ↗

Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.Semantic proximity Read ↗

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.Semantic proximity Read ↗

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.Semantic proximity Read ↗

Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.Semantic proximity Read ↗

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.Semantic proximity Read ↗

Genetic analysis of adults heterozygous for ALPL mutations.Semantic proximity Read ↗

Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.Semantic proximity Read ↗

Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.Semantic proximity Read ↗

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?Semantic proximity Read ↗

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Semantic proximity Read ↗

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.Semantic proximity Read ↗

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