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

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

American journal of human genetics - 1 May 2008

Nousbeck Janna, Spiegel Ronen, Ishida-Yamamoto Akemi, Indelman Margarita, Shani-Adir Ayelet, Adir Noam, Lipkin Ehud, Bercovici Sivan, Geiger Dan, van Steensel Maurice A, Steijlen Peter M, Bergman Reuven, Bindereif Albrecht, Choder Mordechai, Shalev Stavit, Sprecher Eli

Abstract excerpt

Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast...

Read the complete abstract on PubMed

Topics

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

Share to Alopecia
Share to Cell Nucleolus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endocrine System Diseases

Share to Endoplasmic Reticulum

Share to Nervous System Diseases

Share to Ribosomes

Share to RNA-Binding Proteins

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 18439547
DOI: 10.1016/j.ajhg.2008.03.014
PMCID: PMC2427309

Genes

RBM28

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

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.PMID 18439547Read ↗

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.Semantic proximity Read ↗

A Biallelic Variant of the RNA Exosome Gene<i>EXOSC4</i>Causes Translational Defects Associated with a Neurodevelopmental DisorderSemantic proximity Read ↗

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translationSemantic proximity Read ↗

A homozygous missense mutation in <i>ERAL1,</i> encoding a mitochondrial rRNA chaperone, causes Perrault syndromeSemantic proximity Read ↗

Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.Semantic proximity Read ↗

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.Semantic proximity Read ↗

Genetic disruption of mammalian endoplasmic reticulum-associated protein degradation: Human phenotypes and animal and cellular disease models.Semantic proximity Read ↗

A Budding Yeast Model for Human Disease Mutations in the <i>EXOSC2</i> Cap Subunit of the RNA ExosomeSemantic proximity Read ↗

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.Semantic proximity Read ↗

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

Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function.Semantic proximity Read ↗

How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.Semantic proximity Read ↗

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