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

Genetic disorders of nuclear receptors.

The Journal of clinical investigation - 3 Apr 2017

Achermann John C, Schwabe John, Fairall Louise, Chatterjee Krishna

Abstract excerpt

Following the first isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initially discovered by a candidate gene approach based on their known roles in endocrine pathways and physiologic processes. Subsequently, the identification of disorders has been informed by phenotypes associated with gene disruption in animal models or by genetic linkage studies. More recently,...

Read the complete abstract on PubMed

Topics

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

Share to Estrogen and related hormone effects
Share to Genetic Diseases, Inborn
Share to Monoclonal and Polyclonal Antibodies Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Receptor Mechanisms and Signaling

Share to Receptors, Cytoplasmic and Nuclear

Source

Open in PubMed Open full text

Identifiers

PMID: 28368288
DOI: 10.1172/JCI88892
PMCID: PMC5373888

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic disorders of nuclear receptors.PMID 28368288Read ↗

Nuclear Receptor Coregulators and Human DiseaseSemantic proximity Read ↗

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).Semantic proximity Read ↗

G protein-coupled receptor (GPCR) gene variants and human genetic disease.Semantic proximity Read ↗

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Semantic proximity Read ↗

Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches.Semantic proximity Read ↗

Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.Semantic proximity Read ↗

Genetics of Common Endocrine Disease: The Present and the Future.Semantic proximity Read ↗

G protein-coupled receptors: mutations and endocrine diseases.Semantic proximity Read ↗

Maturing of the nuclear receptor family.Semantic proximity Read ↗

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.Semantic proximity Read ↗

Rare forms of genetic steroidogenic defects affecting the gonads and adrenals.Semantic proximity Read ↗

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.Semantic proximity Read ↗

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