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

Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.

Familial cancer - 1 Sept 2013

Schmidt Laura S

Abstract excerpt

Since the hallmark dermatologic features of Birt-Hogg-Dubé (BHD) syndrome were first described by three Canadian physicians in 1977, the clinical manifestations of BHD have been expanded to include hamartomas of the hair follicle, lung cysts, increased risk for spontaneous pneumothorax and kidney neoplasia. Twenty-five years later the causative gene FLCN was identified, and the mutation spectrum has now been...

Read the complete abstract on PubMed

Topics

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

Share to Antineoplastic Agents
Share to Birt-Hogg-Dube Syndrome
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Molecular Targeted Therapy

Share to Proto-Oncogene Proteins

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23108783
DOI: 10.1007/s10689-012-9574-y
PMCID: PMC3637987

Genes

FLCN
FNIP1
FNIP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.PMID 23108783Read ↗

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

FLCN: The causative gene for Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.Semantic proximity Read ↗

New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

[Birt-Hogg-Dubé syndrome].Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.Semantic proximity Read ↗

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation.Semantic proximity Read ↗

Novel FLCN mutations in Birt-Hogg-Dubé patients and potential intervention of FLCN mRNA.Semantic proximity Read ↗

Birt-Hogg-Dubé: tumour suppressor function and signalling dynamics central to folliculin.Semantic proximity Read ↗

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expressionSemantic proximity Read ↗

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read ↗

A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.Semantic proximity Read ↗

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