A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

doi:10.1016/j.ajhg.2017.01.034

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

Community

Back to search

Article

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

American journal of human genetics - 2 Mar 2017

Paolini Nahuel A, Attwood Martin, Sondalle Samuel B, Vieira Carolina Marques Dos Santos, van Adrichem Anita M, di Summa Franca M, O'Donohue Marie-Françoise, Gleizes Pierre-Emmanuel, Rachuri Swaksha, Briggs Joseph W, Fischer Roman, Ratcliffe Peter J, Wlodarski Marcin W, Houtkooper Riekelt H, von Lindern Marieke, Kuijpers Taco W, Dinman Jonathan D, Baserga Susan J, Cockman Matthew E, MacInnes Alyson W

Abstract excerpt

Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. One individual additionally presents with intellectual...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Exome

Share to Hearing Loss

Share to Microcephaly

Share to Protein Biosynthesis

Share to Ribosomal Proteins

Share to Ribosomes

Source

Open in PubMed Open full text

Identifiers

PMID: 28257692
DOI: 10.1016/j.ajhg.2017.01.034
PMCID: PMC5339345

Genes

OGFOD1
RPS23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.PMID 28257692Read ↗

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.Semantic proximity Read ↗

Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy.Semantic proximity Read ↗

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.Semantic proximity Read ↗

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Semantic proximity Read ↗

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.Semantic proximity Read ↗

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.Semantic proximity Read ↗

Molecular etiology of defective nuclear and mitochondrial ribosome biogenesis: Clinical phenotypes and therapy.Semantic proximity Read ↗

The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.Semantic proximity Read ↗

Ribosomopathies: how a common root can cause a tree of pathologies.Semantic proximity Read ↗

Diverse diseases from a ubiquitous process: the ribosomopathy paradox.Semantic proximity Read ↗

Cancer Biogenesis in RibosomopathiesSemantic proximity Read ↗

Probing the mechanisms underlying human diseases in making ribosomes.Semantic proximity Read ↗

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