Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability-Reference-Cited by-同舟云学术

Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability

Published:2011-07-12 Issue:8 Volume:32 Page:921-929
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Nahorski Michael S.¹,Reiman Anne¹,Lim Derek H.K.¹²,Nookala Ravi K.³,Seabra Laurence¹,Lu Xiaohong¹,Fenton Janine¹,Boora Uncaar¹,Nordenskjöld Magnus⁴,Latif Farida¹,Hurst Laurence D.⁵,Maher Eamonn R.¹²

Affiliation:

1. Centre for Rare Diseases and Personalised Medicine and Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom

2. West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom

3. Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

4. Karolinska University Hospital, Stockholm, Sweden

5. Department of Biology and Biochemistry, University of Bath, Bath, United Kingdom

Funder

The Myrovlytis Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21519

Reference33 articles.

1. Kidney-Targeted Birt-Hogg-Dube Gene Inactivation in a Mouse Model: Erk1/2 and Akt-mTOR Activation, Cell Hyperproliferation, and Polycystic Kidneys

2. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

3. Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

4. Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer

5. Comparison of prokaryotic diversity at offshore oceanic locations reveals a different microbiota in the Mediterranean Sea

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