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

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2022

Xue Jing-Yi, Grigelioniene Giedre, Wang Zheng, Nishimura Gen, Iida Aritoshi, Matsumoto Naomichi, Tham Emma, Miyake Noriko, Ikegawa Shiro, Guo Long

Abstract excerpt

Osteopetrosis is a group of rare inherited skeletal disorders characterized by a marked increase in bone density due to deficient bone resorption. Pathogenic variants in several genes involved in osteoclast differentiation and/or function have been reported to cause osteopetrosis. Solute carrier family 4 member 2 (SLC4A2, encoding anion exchanger 2) plays an important role in osteoclast differentiation and...

Read the complete abstract on PubMed

Topics

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

Share to Bone Resorption
Share to Cattle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line

Share to Chloride-Bicarbonate Antiporters

Share to Mutation

Share to Osteoclasts

Share to Osteopetrosis

Source

Identifiers

PMID: 34668226
DOI: 10.1002/jbmr.4462

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

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.PMID 34668226Read ↗

SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.Semantic proximity Read ↗

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Genetics, pathogenesis and complications of osteopetrosis.Semantic proximity Read ↗

Phenotype-autosomal recessive osteopetrosis.Semantic proximity Read ↗

Genetics of Osteopetrosis.Semantic proximity Read ↗

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Semantic proximity Read ↗

OsteopetrosisSemantic proximity Read ↗

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.Semantic proximity Read ↗

Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications.Semantic proximity Read ↗

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Semantic proximity Read ↗

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.Semantic proximity Read ↗

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.Semantic proximity Read ↗

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