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Birt-Hogg-Dubé Syndrome

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2. Clinical manifestations of BHD syndrome

Fibrofolliculomas

Pulmonary cysts and pneumothorax

  • Histology
  • Prevalence

Renal cell carcinoma

  • Histology
  • Prevalence

Other clinical manifestations

  • Colorectal polyps and colorectal cancer
  • Thyroid nodules
  • Parotid tumours
  • Other manifestations
  • For Researchers
    • BHD Literature
      • 1. Introduction
        • Published BHD Families
      • 2. Clinical manifestations of BHD syndrome
        • Fibrofolliculomas
        • Pulmonary cysts and pneumothorax
        • Renal cell carcinoma
        • Other clinical manifestations
      • 3. Folliculin gene
        • Identification of the Folliculin gene
        • Folliculin mutations: mechanism of pathogenesis
        • Folliculin mutations
      • 4. Folliculin and its interacting partners
        • Folliculin protein
        • Folliculin structure
        • Post-transcription modifications of Folliculin
        • FNIP1
        • FNIP2
        • Other Folliculin-binding proteins
        • Expression pattern and cellular localisation of Folliculin
      • 5. Folliculin-associated signalling pathways and processes
        • mTOR signalling
        • AMPK signalling
        • HIF signalling and mitochondrial biogenesis
        • Stress resistance and autophagy
        • Ras-Raf-MEK-Erk signalling and rRNA synthesis
        • JAK/STAT and TGF-β signalling
        • RhoA signalling
        • Wnt and Cadherin signalling
        • Cell Cycle
        • Apoptosis
        • Membrane trafficking
        • Stem cell maintenance and pluripotency
        • Ciliogenesis
        • Matrix Metalloproteinase signalling
      • 6. Cell lines and model organisms for studying BHD syndrome
        • Cell lines
        • Yeast models
        • C.elegans models
        • Drosophila model
        • Mouse models
        • Rat model
        • Dog models
      • 7. Future Work
        • Clinical research
        • Basic research
        • Drugs and therapies
      • 8. References
      • BHD Article Library
        • Basic Research
        • Clinical Research

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