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

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.

Journal of human genetics - 1 Apr 2023

Udupa Prajna, Ghosh Debasish Kumar, Kausthubham Neethukrishna, Shah Hitesh, Bartakke Sandip, Dalal Ashwin, Girisha Katta M, Bhavani Gandham SriLakshmi

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, we identified a large deletion in the 5'-untranslated region (UTR) of SNX10 (sorting nexin 10), where the regulatory region of this gene is located. This large...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Mutation

Share to Osteoclasts

Share to Osteopetrosis

Share to Sorting Nexins

Source

Open in PubMed Open full text

Identifiers

PMID: 36526684
DOI: 10.1038/s10038-022-01104-2
PMCID: PMC10040338

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

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.PMID 36526684Read ↗

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclastsSemantic proximity Read ↗

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.Semantic proximity Read ↗

Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis.Semantic proximity Read ↗

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Semantic proximity Read ↗

The molecular structure and function of sorting nexin 10 in skeletal disorders, cancers, and other pathological conditions.Semantic proximity Read ↗

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.Semantic proximity Read ↗

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

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.Semantic proximity Read ↗

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

Next-generation sequencing for disorders of low and high bone mineral density.Semantic proximity Read ↗

A novel nonsense mutation c.424G>T (p. G142X) in the first exon of XLas leading to osteopetrosisSemantic proximity Read ↗

Genetics of Osteopetrosis.Semantic proximity Read ↗

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